Elias!

Surgery, MRI, & Good News

2012-01-13T18:32:00.001-05:00

We left for the hospital this morning just before 5am amidst snowy and very cold wind chill temperatures. Elias' pre-op report time was 6am After a long day at the hospital yesterday for IVIG we were still a little groggy and not really feeling the long day ahead. Fortunately for us the snow was light and the roads were fine. A good beginning to a good day.

Today's O.R. time was the least complicated we believe Elias has ever had. Today he would be out under general anesthesia for dental screening cleaning and oral cancer screening, quite common among Fanconi Anemia patients. While under he would also have another MRI to screen for more seizure evidence. All in all minimally invasive, but with Elias anytime he goes under anesthesia it is a risk, for several reasons and keeps his doctors and us on edge. Elias did great and woke up quickly in recovery. Which was a good thing since we had another appointment following the surgery. Yes we pack it in don't we! The dentist was please with what he saw. Elias teeth are healthy and strong despite not being able to take any food or drink by mouth. There was no cavities or decaying either. Because of his NPO status he had quite a build up on his teeth, but that was all cleaned away and Elias' pearly whites are gleaming. We were happy to hear the things the dentist did not see, no cancerous looking spots. Head and Neck cancers which include the mouth are highly prevalent. They complimented us on how well his teeth have been cared for. In fact they noted that Elias presents older based in his teeth structure. Elias ahead of the curve on something? That was a rare gem to hear.

The was Neurologist happy with Elias' development and activity. We spent a good portion of the appointment discussing the things he is doing. MRI showed no evidence of seizures (again). The white spot they have been monitoring looks the same. They suspect that it may just be scarring but they are continuing to watch that it may not be a tumor. Not growing in size and possibly even appearing smaller has them leaning more towards the scarring. She did tell us about a gland that was in the wrong position, and while it has nothing to do with seizures, she would like to watch as he gets bigger, how it functions. So there always has to be something new added to the mix. We also discussed his increased care needs with the potential risk of seizure increasing while asleep. We discussed the situation about the lack of overnight nursing coverage. She agreed to write letters of support for any advocacy we embark. Just to catch everyone up on the nursing, we are down to 1 night per week and every other weekend, however the nurse has shown up just half the time so she isn't reliable. We got the info we needed from Neurology and the strong advocating will commence.

All in all very good news today. Elias is home and recovering well from the grogginess of anesthesia. Our wonderful daytime nurse, who we and Elias love to death offered to work tonight for us since she was "off" today with Elias in surgery so that we can get some much needed sleep. We told her she didn't have to do that, but she insisted. We are thankful for that and will gladly take her up on the rare opportunity to sleep. Especially after the last two long days at the hospital. Thank you all for your support, thoughts and prayers. They help make a rocky road less bumpy. We are thankful for the positive news and progress today brought as we continue to watch Elias thrive and exceed doctors expectations.

First Full Schedule Week of 2012

2012-01-10T23:34:00.001-05:00

It has been a typically busy week. One or two appointments each day that will continue through the week. Elias has IVIG as well as O.R. time with dental for cleaning and oral cancer screening. This is important and needs to be done early for Fanconi Anemia patients. While under general anesthesia he will also have another MRI and a discussion with his Neurologist about the readings. While everything should be routine, for Elias anytime he goes under anesthesia it is always a little nerve racking for us as well as his doctors. There is always high risk respiratory wise for him. Thoughts and prayers on Friday will be appreciated.

We are anxious to see what Elias' IGG levels will be, which the results will not be available until The beginning of next week. We are hoping for a continued rise in the level versus the up, down trend that he has been showing. We have noticed some increased energy in him overall, day to day so we hope that is an indicator of positive results.

The photos on today's post are from this afternoon while Elias was being fed. They turned out great! He was watching 'Cloudy with a Chance of Meatballs.' It has become one of his favorites. Thanks to his great-grandparents Nana & Papa for buying this for him. Elias has continued to be really into the chasing game. The communication intent, engagement an initiation of action is HUGE for him. It is a big step forward in his understanding how to effectively communicate. It has been very exciting.

As always we thank everyone for taking the time to read about our amazing little man. He continues to amazes us everyday, and we are trying to share those triumphs with you all as much as possible. We are always thankful for the prayers and support shown to him and our family. We wish everyone a healthy happy prosperous new year.

The Chase is On

2012-01-07T00:18:00.001-05:00

The past few days Elias has become very into the game of chase. He is communicating this desire by taking our hand and leading us, much like he does when he is taking us to something he wants to request. After a few feet he lets go then pushes our legs while laughing. It is quite adorable. As we take off running he let's us have a head start before chasing us. Sometimes he will change direction and try to cut us off the other way. It is a game that has blossomed out of the blue, but has been very active each time he is out and about for playtimes. You can see the pure joy on his face and hear his enthusiasm. It has been a lot of fun for us all. Here is a brief clip of Elias chasing around the house.

A Truly Blessed Gift

2012-01-03T04:04:00.001-05:00

Thanks to an anynomous donation, Elias is now the proud owner of the iPad that was suggested for the next step in his total communication approach. We have started the process of getting him accustom to the 'controls' of using the device. We are also working on fine motor skills he needs to effectively use the communication application. He has caught on quickly, as you will witness in the video below. He also seems to be enjoying it, again evident by the laughter and enthusiasm displayed. We are very grateful to this person for providing such an important and exciting opportunity for Elias! Thank you from the bottom of our hearts.

Here is a sample video of Elias learning to 'swipe' and select on the iPad using a children's book. As you will see he has mastered the skill and is having a grand time. Enjoy this first of what we hope to be many video demonstrations of Elias using the device.

Watching the first snow

2012-01-03T00:24:00.001-05:00

We had our first snow of winter to day. Elias was watching out the window in amazement at the flakes falling. He was so intent on studying it all while taking it in. He stood at the window for a good 25 minutes. It is so great to see him enjoying the simple pleasures of the world.

The world will be his canvas

2012-01-01T16:38:00.001-05:00

Happy New Year

2011-12-31T22:59:00.001-05:00

Happy New Year to Everyone! We are working on an end of year recap that we hope to post tomorrow or Monday. One of our hopes for 2012 is to blog more about Elias! It has certainly become more challenging to find the time, but we are going to make a better effort to keep everyone updated. Two updates in December is just not what we like to see. We hope everyone has a safe and happy 2012.

The Overdue Thanksgiving Update

2011-12-02T12:05:00.000-05:00

Ready for Bed - Being Cute

This update on Turkey Day is very ~~overdone~~ overdue!! We hope everyone had a happy Thanksgiving. Ours was quiet and spent resting as we prepared for Katharine's crazy work schedule that weekend and being nurse-less. We kept our Thanksgiving feast simple. We went with ham rather than turkey this year. Very good choice. It was incredible! Katharine did a wonderful job, as always. One day we hope Elias will get to sample and enjoy his mommy's fantastic culinary skills. This particular thanksgiving brought the thankfulness of not having had a hospitalization preceding it. While he has always been home, the weeks before have always been rough. Last year especially, with the failed colostomy reversal and bowel herniation that lead to emergency surgery. We were discharged unexpectantly at 8pm the Wednesday before. Last year we had hot dogs for Thanksgiving. Having been in the hospital the previous 3 1/2 weeks we had obviously put off shopping for food since we were not expecting to be home and we were too exhausted for anything else. Being home was a blessing, but Elias was miserable and still recovering. In fact it took until January for him to fully get back to normal. So obviously this Thanksgiving was made sweeter.

Watching the Macy's Thanksgiving Parade

While it has been a difficult year full of changes and new concerns we have a lot for which to be thankful. The many people who pray for our family is among the most thankful blessings. The friends and family that check in on us and help out in various ways are always uplifting. We have a few 'Angels' in our lives, one of whom is completely anonymous, that we are blessed to have think of Elias and selflessly provide support at just the right times. We can never put into words how touching those gestures are. These people know who they are and we just want them to know how appreciative their thoughts and support are. We are thankful for the progress Elias has made this year, medically and developmentally. While there have been significant new challenges medically to contend with, his medical team has risen to the occasion to ensure we are equipped and trained to care for and handle these things. The focused care they provide him are realized in his daily growth and development. Without them it would not be possible. We are also thankful for the will God provides us to embrace these difficult times and the ability to advocate intelligently and sternly for his needs. We are fortunate to have the drive to push through the fatigue and exhaustion - mental & physical - and continue to provide to Elias' needs. There are so many more things we are thankful for and a great many individuals we are blessed to know. We could write for days on these. Just know that each and everyone of you that follow Elias' journey is special to us. All of your thoughts and prayers, comments, emails, letters and phone calls are uplifting and appreciated dearly. Thank you from our family to yours!

Happiness is a Swing

2011-11-23T18:19:00.000-05:00

Phone camera photos of E! having a fun time swinging this evening.

Augmentative Communication Evaluation

2011-11-21T18:10:00.000-05:00

It has been a year since we had our last evaluation for an assistive technology device for communication. The initial assessment was that Elias was not really ready functionally for one. Well a year later we have seen tremendous improvement in Elias' abilities. So it was decided by the team and ourselves that another evaluation and different opinion would be appropriate for Augmentative and Alternate Communication devices (AAC) as communication assistants. When we wrote about our evaluation a year ago we referenced Stephen Hawkings as an example of a person who used a type of AAC. For Elias, it gives him a voice that can eventually connect needs, thoughts and expressions. Right now he is communicating very basic needs and wants, but little more. They are like one word sentences with the use of the picture exchange or gesturing.

Our evaluation session was very informative and extremely helpful in determining where we are in the process and what we can do to get him ready and able to use one effectively. The main reason it is important to ensure he is ready for an AAC is that the devices are typically priced around $7,000 or more. Insurance funding for some or all of the cost can only be submitted once every 5 years. Therefore it is important to find something useful now, but has room for growth.

We have followed and implemented many of the suggested strategies by the first set of AAC evaluations with success, so we are on the right path. This much we know. This latest session told us we are close, but not quite there. So funding requests for a device is still discouraged. However, there are some alternatives that are highly recommended as transitional tools. The technology and concept of Tablets, like the iPad for example has really opened the door for children. There are now several applications which function similarly to their expensive counterparts-yup, the saying is true, 'there is an app for that.' After watching Elias engage with a tablet with amazing proficiency she felt that he was indeed ready to move into this direction. Elias is more interested in a dynamic display , versus the static nature of just the picture cards. While he responds well to those picture cards he is obviously highly motivated by the dynamic screen. The touch screen of a tablet is more easily achieved for Elias even with his hand and arm malformations. He can even eventually be taught the use of an adapted stylus in addition. She is impressed and pleased with Elias' intent to communicate in addition to his ability to use various methods to obtain the results he is seeking. At the end of the session she gave us a very confident and strong recommendation on device and application software that would most optimally suit Elias' needs for now. Her device suggestion is a iPad2 (32 GB suggested for library expansion) with the use of the GoTalk Now application. This program provides the basic use for now and the growth needed as he develops more skillful use. It is also highly customize-able with unlimited digital photos and additional resources. It will also be necessary to find a very sturdy case (we have been given a very good recommendation here as well - military grade protection too), to protect the investment since kids have a tendency to drop them.

So now that the recommendation has been made it is up to us to figure out how to make this happen. We have done some searching to see about grants or other funding sources, but have had no luck. Many of the programs out there we have found are specifically geared towards Autistic children or Asperger's Syndrome patients. The only funding source the social workers have been able to identify as a potential is a waiver in our state especially designed to cover equipment need expenses and adaptable equipment. However, we do not qualify because you can only be on one waiver program. Elias is already on a medical waiver program to help cover the cost of his nursing care - let's not even go there on how poorly that has been going - so we would have to relinquish that, which unfortunately is non-negotiable and not an option. To be fair that waiver is not designed with chronically sick children in mind that need ongoing medical care. It is for children with delays without the "illness and disease." It has become frustrating how Elias falls outside of everyone's "box" of criteria. None of the Social workers or others in positions to provide information on assistance can ever find anything to help like they can many patients. It is not their fault, they can only go with what they know and learn. It frustrates many of them as well. Elias' complex needs medically and developmentally are in conflict. It is like the system can't handle it if you have both, which for serious medical issues and the amount of time in a hospital like Elias has had, delays are inherent. We will continue to search for a way but it seems that we will need to find a way to purchase these things out of pocket. Discussing this with his school and therapy teams, they have other clients who use this type of transitional material and they are pleased with the positive impacts they have seen with those children. In addition to using the iPad2 as a transitional AAC device there are many other educational uses and tools that his preschool teacher and therapist have said they would likely take advantage of having available.

This is the next step in Elias' total communication approach. The ultimate goal is of course for Elias to become verbal, but realistically that is still years away. He still has a great deal to accomplish on the listening side, but with the progress and verbalizing we are hearing from him, the future is bright. With continued Aural Rehab (listening therapy) and speech therapy along with the addition of these new tools Elias will become more independent from a communicative point of view. Creating that independence is extremely important in his overall development. With the progress we have seen over the past year we have seen equal explosion of positive development in all other areas. This will only continue if we keep moving in this direction. That is why we must make this happen regardless of the sacrifice it takes from us to make it a reality.

IVIG Denial Update

2011-11-19T13:38:00.000-05:00

Out last update shared the news of insurance denial for Elias' IVIG infusion, a treatment he has been receiving for two years. On Thursday evening the insurance company finally contacted his bone marrow transplant doctor for the peer to peer review that had been scheduled for earlier in the afternoon. The nurse coordinator called us afterward and was a touch frustrated by the call. Essentially this call was just to screen the situation to determine if this was even worthy of a review. After the insurance company's doctor asked and received all the information he wanted he told them, "If you fax everything over to us within the next five minutes, it might be reviewed next Tuesday." That meant we had to cancel the IVIG scheduled for yesterday. If the insurance company does indeed get to review this Tuesday we might be able to have it the end of next week. On Friday morning the insurance company called again requesting even more information. They were inquiring on Elias' immunization record of Pneumococcal Conjugate, which he had received on schedule in 2008. However, his titers for this are obviously showing little to no response. This will further strengthen and support the necessity of IVIG, not that there isn't enough there already. So there is quite a bit of confusion as to why there is so much questioning about this. In fact Elias' last IGG level are well below the max level according to the Insurance company's matrix of necessary therapeutic dosing. So everyone is really having a difficult time with this resistance. We were told his doctor made it very clear that if they continued to deny this, Elias would likely be hospitalized for any number of potential causes because of this - history supports that statement as well. His levels have been too erratic and unstable recently. All we can do know is continue to pray and hope for a swift resolution. Monday morning the team will pursue some potential backup plans or next steps should the denial uphold. We will be watching Elias like a hawk and lower our threshold and comfort level if he is having "an off day." We do not want to take any chances given his past history of being nonclinical for a great many issues. Hopefully by Thursday we will have a resolution and will be able to add it to the list of things to be thankful for this Thanksgiving Holiday. As always thanks for the continued thoughts, prayers and support.

IVIG denial

2011-11-17T16:33:00.001-05:00

Elias' IVIG has been denied by the insurance. There was to be a peer to peer review call today between 1-2 but the insurance company never contacted his doctor. We are waiting to hear if things will work out as he is scheduled for treatment in the morning. His levels have dropped drastically again so this is extremely necessary and important.

The last time a dose was skipped was in July as they were hoping to space his treatments out. Elias was hospitalized with his seizure & suspected viral meningitis. His IGG levels also tanked to the 320's. Coincidence? More than likely, but no one wants to take that chance.

Please Pray for a favorable resolution. We are confident the medical team has more than enough data to support the justification of these treatments. Hopefully this will be enough to provide the insurance the medical necessity needed for reversal of the denial. We have been fortunate to have not had this issue up until now. The treatment is too expensive to afford out of pocket -the medicine alone is $1500-$2000 a dose. Then again there isn't much we can afford these days, let alone ultra-expensive infusions. Thank you all for your thoughts and prayers for this.
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Hear Elias! Speaking

2011-11-10T16:23:00.001-05:00

Below is a link to six audio clips of Elias speaking with various babble and the words 'baby' & 'bubbles. ' We hope that you will take a few minutes to listen to his progress. It will warm your heart as it did ours!

http://locrianmode.posterous.com/listen-and-be-amazed

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It Has Been A While

2011-11-01T12:26:00.000-04:00

From Halloween 2010

Halloween 2010

Elias took advantage of Halloween to give Daddy a scare. He had been having an off day yesterday. He seemed more tired than usual and a bit moody, so we were already more watchful. While napping his head began to shake and his eyebrows moved up and down rapidly. Within seconds his head was shaking faster. Initially my heart sank, another seizure. I quickly began trying to wake him, with a single toggle his eyes opened I put my hands on his shaking head and it stopped. Thank God. Had it been a seizure it would have kept going. He did seem to have a bit of a headache so we gave some Tylenol. He began to feel a little better shortly afterward. We were thankful it wasn't another seizure and feel like he was feeling a really bad headache or migraine in his sleep. The head shaking was just him trying to soothe himself some. Unfortunately, headaches and migraines have become increasingly common. They are a side effect of his IVIG as well as a new normal, as we are told with the seizure problem. Neurology told us two things in his last visit with them. First, he is more prone to have seizures when he is asleep and potentially when sick. Second, we need to lower our threshold on giving Tylenol. Since Elias is non-verbal, while his communication has improved headaches are often disguised and difficult to read. We are all getting better learning the subtle cues. It is a process that we are constantly making progress. Needless to say there was no dress-up or trick or treating for Elias. We had not planned on the trick or treating anyway. First, he can't be out that much and second he can't eat by mouth anyway. Finally, being non-verbal and not hearing he has no understanding of what the heck holidays are anyway. Last year we sat outside for about 15 minutes with him so he could see the other kids dressed up. He didn't seem to care too much, hahaha. Just FYI he still fits in his Halloween costume from last year!

It has been so long since we have been able to update. It just seems to be getting more and more difficult. Time has been a premium and we have been in a survival mode with the loss of night nursing over the past few months. We have had to juggle staying up all night and then struggle not being able to sleep with appointments and therapy during the day. After 7 weeks we finally have some coverage, but staffing continues to be a problem and seemingly impossible for the agency. Unfortunately there is no alternative, they are still the only agency accepting vent patients. Our advocacy woes with them continue and their incompetence shows daily, but what can we do? We have caught them yet again in an outright lie about how diligently they are working on the case, but they don't care and there is nothing we can do. Unfortunately Elias care needs have intensified overnight and is much more critical with the seizure risk protocol. These are the doctors words, not ours and we are working with her to try and enlist her help in pressuring the agency over Elias safety. We have to try, but not expecting it to work. They have a mind set and it has not swayed in the almost 2 years we have been with them. The excuses are the same, yet there is no action on their part in an attempt to change and improve the issue. Instead they are content with being passive and using the same excuses repeatedly, yet contradicting themselves by telling parents 'we don't hire nurses unless they can work nights and weekends.' If this were true then we do not understand how there can be a problem staffing weekends and nights. The nurses that are working here have never been told they "HAVE" to work weekends, they were given a choice. When they said no, the agency did not push. They simply said 'okay.' I'm going to stop there I don't want to get into a rant. Just know it is growing tiresome and it is frustrating knowing you are helpless to change the situation and at the mercy of a failing system. We are not the only family like this. We know countless families in and out of the area experiencing similar issues. While that makes us feel a little better knowing it is not just us demanding too much, it is sad that no one is raising a red flag for such a widespread issue.

Preschool - the past two months have, as expected been a learning experience. As we mentioned in the
previous paragraph and post with the look of our calendar the schedule is packed! We knew it would be busy and it hasn't disappointed. It would be more manageable if we were up 24 - 36 hours at a time. We have managed quite well all things considered. A lot of daily chores and cleaning has been sacrificed, focusing on the priorities, but that is what you have to do when you face challenges. The biggest issue has been scheduling. They all want to come at the same time or limit the days they can come. Again we are working through this and are making progress. We have definitely learned a few things that we will be asking to avoid next year and will fight to write it in his IEP next year. The biggest issue is the co-treats. While these are effective periodically between 2 disciplines, every time is over kill and ineffective. OT & PT especially. They often are competing for Elias attention when they both are here. They each have very different focuses and while they claim to do this often it is not working for Elias. He ends up running away from them and standing in a corner. It stresses him out a bit and very overwhelming to have someone work with you and then suddenly another person pops in the picture trying to make you do something different. You can see it in his face. We have addressed this and they disagree with our assessment. A few weeks ago the PT was forced to come out alone and she commented how engaging, productive, and focused Elias was. We took that opportunity to stress our point again, but it was brushed aside it seems. The argument we are presenting now is that he is approved to have two 45 minute sessions of each, PT and OT. By co-treating he is being cheated out of time, given that each of them is battling for his attention. It is comical to watch, but the reality is it is not effective. We can't believe that no other parent has ever brought this up. He is only getting 90 minute session with both simultaneously with the focus is back and forth. Not the 180 (45 x 4) That is not giving him the time he needs, or any patient for that matter. He is likely not going to reach his goals on his IEP due to this and while it is a set back for Elias, it just may help strengthen our advocating point.

Elias development overall has been incredible. His communication is constantly improving, expanding and evolving. Gesturing and him physically taking us to an item he is requesting has become a knew favorite form of communication. Just like we use different methods to request things, he too is learning to choose from the various tools - picture exchange, gestures, signing - for what he wants. It is amazing to watch. His joint attention is also becoming more purposeful. We are beginning to work on getting him to understand that we also need to have the ability to decide when something is all done or finished. Not an easy task when you have no ability to explain why you need to stop and activity. He simply sees it as done. Impressively he has grasped the concept surprisingly well given that barrier. He reacts appropriately with mild tantrums or displays of displeasure consistent with a 'typical child'. His independent play has never been a problem, and we are seeing continued growth in this area as well. Baby is a word he says quite often and he also says something that resembles bubbles. Bubbles of course being one of his favorite activities and one of the most motivating tools we have in teaching. His saying these two words along with many sounds (ah, a, b, ch, du, da, eg, j ,la, lu, m) tells us that the listening therapy (Aural Rehab) is now showing dividends. We have some recordings that we are trying to put together to post. We have been doing AR for over a year and a half and the progress has been questioned more by the providers than us, but it has been reminded that this is going to be a slow long process. Once we all focus back on that point and see these things, most of which he has just started in the past few weeks it is reassuring and promising. It may take five years but if we continue to do the things we do and work fervently there is hope he will hear and even verbalize. That is truly a blessing and melts away the stress, mental and physical exhaustion. Elias continues to make us proud and thrive beyond expectations his medical limitations should have. There is a great deal more that we could share, as so much has been going on. These have been the key points. As always we keep on pushing. Thanks for your patience, your thoughts, and your prayers.

For Want of A Blanket

2011-10-11T08:44:00.001-04:00

I know we are long overdue for a update on things & hopefully soon we will be afforded the time for that to happen. This morning we had to share this story with you though.

Elias! will only sleep & use crochet blankets. He has half a dozen that various people have made for him. He LOVES them and always has, even while in the NICU. He has a particular favorite one that Katharine made. She was actually just practicing patterns one night and Elias! walked up, noticed it and took it from her - still attached to the ball of yarn. It was adorable and Katharine realized this was going to end up a Blanket for him, we now call his chocolate covered cherry blanket. It is brown with a red center, thus the name. That isn't the story we wanted to share. It is the back story that sets up his attachment to this one particular blanket.

Yesterday morning we took Elias! to his room as we always do for his cares. While we are cleaning up Elias! jumps up and runs around as usual. Then we notice he is standing by his hamper reaching in trying to pull something out. It was his chocolate covered cherry blanket. It had been put in the hamper and replaced with another so it could be washed. This is not uncommon. We wash them all once a week. We picked Elias! And the blanket remained in the hamper. He did not put up too much of a fuss. Once down stairs he began to run around and play. Then he headed to the stairs and began crawling up. That isn't unusual, he enjoys climbing them. He usually stops at the last step, turns around and slides down. We have never been able to get him to climb that last step...until then. Without hesitation and with obvious purpose he went up the last step, stood up and walked to his room. He stood at the closed gate holding the bars and trying to get in. It was adorable. We opened the gate and he smiled, ran into his room and headed straight to the hamper. He quickly grabbed his chocolate covered cherry blanket and walked back over for us to pick up and carry him back downstairs. He was happy! We learned two things. We already knew how determined Elias! could be, but he has never been this way over an object. Secondly, when ready to was the said blanket take it directly to the washing machine :-)
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What we have been doing

2011-10-09T18:33:00.001-04:00

A picture is worth a thousand words in helping to explain why there have been so few updates. To say we have busy is an understatement.
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This Weeks Recap

2011-09-25T02:18:00.000-04:00

It has been another busy week here. Tons of appointments in 3 days at Children's Hospital. On Monday we had to head into the FA Clinic for an unplanned visit because of Elias' central line. We noticed on Sunday night while changing the cap and dressing that there was some blood buildup (the beginning of a clot) just below the cap. This is very dangerous as a clot or air bubble in the line would travel directly into Elias' heart. Fortunately it was a "simple fix." All things considered that is. We pushed some "super heparin" in the line to break the clot up. It sat in the line overnight and was withdrawn the next morning. The clot cleared and everyone was happy, breathing a sigh of relief. We need to ensure when we are inpatient and receiving medications through his line that the flushing is done in a pulsing fashion, rather than conservatively. Plus per protocol anytime they flush the line they draw back and pull "waste" blood to ensure the line integrity is functioning properly. Not a big deal, lesson learned and we will know to address this next time to prevent a repeat issue.

Tuesday morning we had a follow-up with Neurology. She was very pleased with the way Elias looked and acted in addition to the way he responded to her reflex tests. All positive signs that there was no lingering effects or damage to the brain from the latest seizure. We discussed the raising of dosage on the Keppra (seizure medication) and the rescue drugs. We also set a new threshold for when to call 911 for transport and admission. The goal is to obviously not be admitted every time he has a seizure. Hopefully the increased Keppra will prevent them, but should he have one the Versed (rescue med) should stop the seizure within a few minutes. Any seizure over 5 minutes will warrant a 911 call. The real question still remains, why? As with the breathing episodes, we may never know the answer. We are going to be seeing neurology much more frequently going forward, even without seizure activity to monitor him.

One bit of- we call it bad news but it really is what it is- in clinic they weighed Elias and he has lost weight :-( He was down to 8.1 kg from 8.4 kg which for those of us in America means he dropped under 18 pounds again. We are thinking it is from increased activity and mobility. He simply burning calories like mad. We are working on trying to get GI back on track with managing his feeds so that he can GROW! This is something that all his doctors keep saying will hopefully improve some of the ongoing problems, especially the airway. This is one of the issues associated with Fanconi Anemia, small stature, but Elias is even small by those standards. Our little joke has always been, Elias is not small he is fun size!

This week Elias also dove into his full preschool schedule here at home. As suspected things are going to be intensely active and busy. With the newest issue in the seizures that is only increasing the appointment load. After this week and finally meeting with all his teachers and therapist we are beginning to wonder if we should not have waited as we originally intended. We are having some issues with scheduling. Everyone seems to want to come on Tuesdays. We have 12 therapist between school and outside services to try and work in around appointments. It took some serious negotiating and rational arguments to attempt to gain some flexibility from everyone, but we are hoping things will begin to work out and settle in. The preschool teacher was wondering why she was part of the team this year. Not that she doesn't want to work with him, but where he is developmentally is making it challenging for her. Fortunately we do not have any specific IEP goals with her, but we agreed if we needed to cut back in anyway due to overload she would be a first to go this year. We are still positive but are really going to have to watch for contradicting methods and strategies between the services. We do not think many of the school therapist realized the intensity of the duplicating services. Which typically would have separate goals due to limitations on the school therapies focus to education based only. This year much of that has been removed to get him caught up, which was why we had the outside services and had planned on waiting a year. We will need those outside services in future years though to cover all Elias' needs. To cut them now would put him at risk of not being able to regain them later. It is a vicious circle that we knew from the beginning was going to be hectic and maybe even a bit frustrating. We have faced similar problems before and have always worked through them and this will be no different.

On the home front, Elias has been having fun. His infatuation with bubbles has become an obsession. He LOVES bubbles and wants them constantly. One really awesome effect is that he is trying to say bubble. Further proof the listening therapies are slowly but surely working. He says "buba" when he looks at them in the container we keep them in or when he grabs the bubble card to communicate. He has really been focused on gestural communication. He is getting quite effective with this method as well. He is really proving to everyone how bright he is, but his stubbornness is making progress a little slow building his "vocabulary" or repertoire of words with pictures, signs, and actions. Looking back on the last nine months Elias truly has come quite a long way though. We are proud of his progress and hard work.

Many of you have been asking about us and how we are doing? The past several months have been among the most stressful we have encountered so far in our journey. It has been physically exhausting and mentally draining. We manage as always, but sometimes we look back and ask ourselves, how did we do that? It is amazing how driven we can be when it comes to him. Sometimes we feel his smiles and laughter are an alternative energy source in itself and that is okay by us. It is completely amazing what you can do when necessary. As always we appreciate all the thoughts and prayers for our family and especially for Elias! He is a special little man and continues to capture hearts. We are very thankful for all of you and for everyday with him.

Settling In (again)

2011-09-18T00:09:00.000-04:00

I am quite tired as I write this, so I apologize in advance if it is less than coherent. We have been settling in (again) and adjusting to some new routines. Elias' Neurologist felt that raising the doses on his seizure med - Keppra and his rescue drugs might help the prolonged seizures from happening. That will also keep us out of the hospital each time one occurs. There are still no obvious answers as to why these are happening and even more interestingly, why now? What is really frightening and frustrating about these are the fact that this second seizure started in the middle of the night, while Elias was asleep. None of his monitors for various vitals were ever triggered, so it is something that has to be watched for closely. It adds a new dynamic to his awake and alert care needs at night. So basically, this past week has proven that seizures are now an addition to the already long list of diagnosis and issues. It is frustrating and stressful to say the least.

Elias has been happy to be home and doing well. It always amazes us how far behind we get when he is hospitalized. We were just getting caught up from the admission a month ago. Katharine and I have been pretty tired and even borderline ill, mostly allergies we think/hope. Sleep deprivation is also among the issues we are battling, but we are working on getting that under control. Surely that is also contributing to the way we feel.

We will hit the ground running next week beginning with a neurology follow up from this hospitalization. We also have several other appointments on deck this week, including Elias' pre-school activities here are home. There is rarely a break in the action. Once again we can not convey enough our appreciation for the support, thoughts and prayers from each of you.

Back Where He Belongs

2011-09-15T15:36:00.000-04:00

We brought Elias! Home today. All the cultures were negative, so it appears that seizures are just a new problem we will have to contend with. We will update more on some changes and information.
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Another Ambulance Ride

2011-09-13T08:08:00.000-04:00

Technical Issues & lack of sleep are the reason for screenshot photo of update

Another Ambulance Ride

2011-09-13T07:46:00.000-04:00

This morning shortly after 3am Elias started to have another seizure. This one lasted about 30 minutes. All the emergency protocol medicines had to be used, including the IM shot. We called 911 when the meds only lessened the severity of the seizure, but did not stop it. While being transported to the hospital the seizures stopped.

The initial evaluation showed Elias with a fever of 102 and his heart rate is elevated. The usual suspect list of blood work, urinalysis, & monitoring has already begun. We are still in the ED and it doesn't appear we are moving anytime soon. All we know at this point is we have answered the question a half dozen times already who is primary care doctor is and who his neurologist is and that there is a very high probability he will be admitted. Otherwise, we are pretty clueless. We are not sure if they will want to do another spinal tap or not to check for meningitis again. Remember the jury was out on if the last one was from that or not based on the results of the spinal tap.

Despite all these issues Elias has been in pretty good spirits and has the occasional smile. These are welcomed sights for sure. We will keep everyone posted as always on progress. Thanks again for the prayers and support

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First Day of Home Bound Preschool & Media Transition

2011-09-05T15:34:00.001-04:00

As we mentioned in our last update, finding the time to update has become incredibly challenging. We also are having some challenges in sharing things such as photos and videos. Sites we have been using have gone out of business or made changes that make them ineffective, difficult or useless. We have been exploring some options and trying to find those that compliment our mobile sharing needs - since 85% of our sharing happens on the go or at a time when getting to the computer is impossible for unforeseen future. So if you have already noticed that stuff is spread out on several sites, fear not - we are going to pare that down shortly. Thanks for bearing with us through this transition. This truly is a wonderful age we are living in with the ability to stay so connected.

Little Ham in his 1st day of school outfit

Moving on to Elias! He has been a busy little fella. Last Wednesday was his very first day of home bound pre-school. Mommy had a cute little outfit picked out for the occasion, a huge milestone, even if it is just here at home! He was meeting with his speech therapist. Elias slept right through the session despite our efforts to wake him. Unfortunately the time was 3:15 in the afternoon, prime nap time for him. We had warned this would be an issue. She wants to try again next week at the same time to see what happens. If we need to change the time we will. It will likely be changed as he does much better earlier. The session was not a complete wash though. We spent the time updating what he has accomplished and the changes that have occurred over the summer. She was happy to hear of his communication progress, particularly with gestures. He is becoming quite versed in that method and it has become his primary source of communicating. At this point she is the only one that has contacted us to begin, but we should be hearing from all the others working with him in the next few weeks.

Medically, Elias is still doing fair. We had IVIG again on Friday because his IGG levels are so low. We will find out this week just how often we will have to go for this. They still are unsure why those levels are dropping. Elias was having fun though before the infusion began. Here is a quick video of Elias! jumping on the bed in day hospital. His adjusting to the medicine seems to be going well. The B-6 vitamin also seems to be having a positive impact limiting some of the more severe side effects, at least in occurring as often. The medicine for the adrenal issue also is having a positive impact on his energy level, he is able to sustain more. We are still coming up on a few follow-ups and waiting to see a few new doctors to try and help with various components. Overall, we can say that given the circumstances and all the changes Elias is doing pretty good. Thank you all for continuing to keep Elias in your thoughts and prayers.

One final thought/question - What would everyone think about occasional audio updates? It is something we are exploring as an option to bridge the gap between updates when it is impossible to do so. It gets more difficult the longer it is between updates. Leave us a comment below or click the contact us banner to the left and give us your thoughts.

Shaken not Stirred

2011-08-24T16:13:00.000-04:00

Man does it ever seem to be more difficult to find time to update lately. It seems like the longer we go between updates the more difficult it is to put it all together. More on that later. Yesterday there was an earthquake in Virginia, you all undoubtedly know this. We have a great deal of friends in family in that area that were thankfully unaffected and safe. We also had tremors here in our area as a result, but nothing too bad. Crazy stuff! Shortly after the "earthquake" we had to make our way to the hospital for a Pulmonary appointment. This was a routine follow-up because of Elias' hospital stay a few weeks ago. Pretty much status-quot, which is always welcomed. Dr Wood did comment on the new adrenal insufficiency. Again he is so amazed that Elias has yet another affecting diagnosis, that there isn't a system or organ in this boy's body that isn't impacted in some way from Fanconi Anemia, yet he thrives and out performs expectations. No one is complaining of course, but it is amazing. He is interested in watching how Elias does over the next 4-6 months with the recurrence or absence of his spontaneous breathing stoppages. Will the Keppra (anti-seizure medication) have any impact on that or not? He will be working along with neurology to evaluate. Katharine took the opportunity to ask him about the possibility of letting Elias have anything by mouth, knowing what the answer would be but you have to ask you know. He chuckled a bit and hung his head and said, "I don't want to answer that." He still feels it is too dangerous a risk, especially since there has only been marginal improvement in the airway compression along with the lack of growth to assist that. It is fair and we expected that as we said, but again if you don't ask....

Speaking of the Keppra - we have started to see a diminished amount of side-effects with the adding of the Vitamin B-6 along with the natural adjustment. So that is a positive sign. The daily steroid that endocrinology has ordered also seems to be having a positive impact. He has been on that 3 times a day for just under a week and we can already tell a difference. On a not so positive note, Elias' IGG level has plummeted. These levels correspond with immune system function. He dropped close to 200 points to the low 600's. He was around 890. Normal ranges for this is 400 as an accepted low and 1200. He has been steadily declining since May from 920 to 890 and now the huge sudden drop has the doctors a little concerned. We already have gone back to extra precaution mode with him and will continue that for awhile. He will be getting IVIG much more frequently it seems. We got a call yesterday from the FA clinic saying they wanted him in for an infusion this week, but were okay with waiting until next week if need be just no later than that. I think the bigger concern at the moment is we are getting ready to head into cold/flu season and with him being more compromised than his normal is a touch concerning. So they want to figure this out and get his IGG numbers back up as quickly as they can. There will be more on this in the near future we are sure. One final item to quickly note is we are moving forward to see the Infectious Disease (ID) team in order to try and get a better grasp on the c-diff situation. GI is just not doing much to follow-up on this, and he has been put on the same course of vancomycin for the dozenthish (is that even a word?) time. A few of his doctors were NOT happy to hear he was being treated again, because the symptoms were not there 100%. We agreed. So we are looking for another opinion, especially after the conversation we had with ID when he was being evaluated during his admission.

Overall Elias continues to improve and recover. We are settling into his new routine, which has become a bit more intense as we have increased from 5 daily meds to 9 (most 2-3 times per day around the clock) and 16 overall with the "as needed" and emergency medicines. Kind of reminds us of our first months home. We switched pharmacies 3 weeks ago, they already know my name and face we have been in so many times. We continue to be thankful for how well he is doing all things considered. Especially after being reminded so much lately how unlikely it should be and how incredibly complicated, medically he continues to become. Thank you all for the continued support and prayers. They are obviously being answered.

Brief Endocrinology Update

2011-08-18T14:53:00.000-04:00

The endocrine test results for adrenal function finally came back and we were contacted yesterday. Typically they would see numeric values for typical to be around 13, Elias' came back less than 1. So Elias does indeed have an adrenal insufficiency. He will now be taking a daily steroid to help maintain proper levels. He continues to improve and recover from his latest issues and hopefully this will help.

Neurology & Endocrine Follow Ups

2011-08-10T11:29:00.000-04:00

We had been holding off on an update to get results from a few things, but it appears they are taking longer than expected to complete. So we will update on what we have from the follow-up visits last week. We conveyed our observations and concerns over the possible side-effects Elias has been exhibiting from the Keppra, his anti-seizure medication. Neurology agreed that these were likely linked and have added vitamin B-6 twice a day to his medication regiment. There has been some success with counter-balancing the Keppra with this vitamin. It is something we have to crush to be able to give via G-tube, so there is a small process to prepare it. So far it hasn't been too bad and our biggest worry was clogging, but it seems we are crushing it fine enough. We also changed the emergency medication and protocol for if he actually has a seizure again. We will be giving Midazolam. After we draw it up from the vial we will remove the needle and actually push the medicine into the buckle of his mouth - pocket between the gum and cheek. This will allow for quicker absorption into the blood stream. We are also going to give this the next time Elias spontaneously stops breathing to test if the clusters continue or we isolate the behavior. This will help to figure out is that issue is seizure related as pulmonary suspects. The biggest surprise from the appointment was to hear that his neurologist still feels strongly that Elias had meningitis despite the very well reasoned logic from Infectious Disease (ID). To recap, ID felt that Elias recovery time alone was too brief, there were no signs or symptoms prior to the seizure, and a seizure is not the initial presentation of meningitis. Furthermore looking more in depth at his blood work, there were not any of the other tells you typically see. Impressively his Neurologist brought up the point that Elias is far from normal when it comes to lab work, symptoms, and recovery. This makes for a very strong argument against ID's thoughts. Flashback to July 2008 when the tracheostomy and G-tube was placed. Elias was just a bit off, and it was a Mother's intuition nothing physical that made Katharine press the doctors to run tests the night before the surgery. His blood work showed no signals and his physical exams were fine as well. We found out that Elias had full blown pneumonia that went undetected because there were not any "typical symptoms." Elias had to battle for his life after crashing on the operating table. So what does all that mean....well medically, nothing. It means we don't truly have an answer and must proceed as seizures are a new problem that will strike randomly. It also reminds us and deepens the vigilance we use becoming concerned at the smallest of changes. In you or I it would present much stronger, in Elias it may appear business as usual. All-in-All we will simply keep doing what we have been doing, successfully. Before this we had kept Elias out of the hospital for an illness since April 2010, when he had a MRSA blood infection. That includes 2 winter seasons unhospitalized (ie; cold/flu/rsv hell) for a trached child that is amazing, as the doctors reminded us.
We are still awaiting the endocrinology results in reference to the possible adrenal insufficiency or dissolved regulatory response. This may mean another medication daily, a steroid instead of the stress dosing we are set-up with now. We are also going to be checking his blood sugars a few times a week for 4-6 weeks just to make sure things are working as they should. They do not feel this is an issue, but this will make them more comfortable in evaluating the big picture from an endocrine stand point.

We are beginning to see Elias level out a bit and regain some of his energy that has been difficult to watch. He has had a good week overall with the amount of time he will play and how he has felt. Part of it is adjusting and let's face it Elias was very sick so recovery will take time. The doctors did a wonderful job disguising the seriousness of things while he was admitted - giving it due attention mind you, but keeping our stress down and concern level low. However, now that he has improved they have not been shy telling us how very concerned they were and sick he was. Dr. Mehta, his bone marrow/FA specialist commented to us in clinic she has no idea how we handle it, but she is glad that we manage somehow for Elias sake. That is just it, it is for Elias' sake. She also reinforced how challenging and unique he is medically on all fronts. We appreciated the compliment and vote of confidence, which several of his doctors have made over the years. We told her that it helps to have great doctors caring for him and talented enough to handle his challenges and be pragmatic with his plans. They have provided us with the tools and we have embraced them. Without them, along with supportive family and friends we would not be half as strong as we are. It serves as yet another reassurance that we made the best decision coming here for his care and reminds us that he has some of the top doctors in the world - for their fields - working with him. We couldn't ask for more. Thank you for the continued prayers, support, and uplifting motivation. As I posted on Facebook this morning, "Tomorrow will be a better day because we are privileged to be granted the opportunity."

Florida State University Football & Elias!

2011-08-08T20:55:00.000-04:00

This week Florida State University Head Football Coach Jimbo Fischer announced to the media that his youngest son, Ethan has Fanconi Anemia. Our thoughts and prayers are with them as we know how difficult learning of this diagnosis can be. We welcome them into the FAmily for love and support. It is a reminder that no matter how rare this disease is, it is still a small world.

Elias' first word

2011-08-05T15:06:00.001-04:00

You have to listen close as it is right at the beginning and quiet, but his Aural Rehab therapist has confirmed and acknowledged this is/was his first officially spoken word.....the word is BABY. It is proof that progress is slowly but surely being made and while it in no way suggests that Elias will be "talking" anytime soon, this is a reassuring sign

our persistence and aggressive therapy is paying off

Stretch to Home

2011-07-27T14:30:00.001-04:00

Elias playing with his Kermit shortly after we arrived home

Thankfully Elias is home! We came home yesterday evening, but it almost did not happen. The IV antibiotics which Elias had been on to treat him is high in toxicity. Trough levels drawn on Monday morning were above his peak. The plan had been to send us home on the IV drugs as Elias has the central line and we have been trained to administer via this route. The problem with the high levels meant the would need to check them prior to each dose, which essentially would mean that we would have to sit in the hospital for 7-10 days while the course continued. Fortunately for us Elias primary care physician - which is a paper pusher for him essentially - refused to manage the follow-up care for home IV antibiotics. After all he has only seen Elias twice ever and the last time was April 2010. This brought the infectious disease team into the picture. They would be the ones to manage his home IV therapy, which is odd because we never had that problem or need before, but it actually proved to our benefit so we are not complaining. They came in and did a very intensive interview and review of Elias' medical history (it took awhile as you can imagine). There recommendations were rather eye-opening and opens up a whole new set of issues. They felt that Elias was recovered enough to no longer need the IV antibiotics. With that in mind, while meningitis was the only revealing result of the tests, the fact that he had recovered so quickly and there were no other symptoms prior to the seizure leads them to doubt that this was a true meningitis. They can not say for certain, but the factors are not consistent enough. That opened the door to come home since Elias was at his baseline. Should Elias present any symptoms then it should be treated as a new case and start over. This justified medically his discharge. Why this opens up new issues is now we have to continue to treat and be concerned about future seizures. With a confirmed undeniable meningitis that would be enough to cause the seizure and make the doctors feel confident it was isolated. Now that is not so clear. So we come home with new concerns, new worries, more medicine and new protocols along with more emergency procedures. It is just another phase that we can hopefully rule out with some follow-up. We have dealt with new worries and concerns many times before and have always overcome the fears and Elias has always been amazing with recovering.

One thing we have learned about Elias is that he has this ability to bring out the best in people, particularly us. We are constantly amazed at how much we can handle, but simply looking into his eyes and witnessing that smile provides incredible strength. It may not be an easy road and often we wonder can we continue or how we can continue, but his strength and determination is brilliant and motivates us. We have several follow-up appointments coming up very soon so we should have some more updates on this scenario soon. Right now we are trying to get back into the swing of things here at home and enjoying time as a family. Thank you all again for the support and prayers, they certainly were answered.

No Place Like Home!

2011-07-26T19:06:00.001-04:00

Elias was discharged from the hospital today and is now in the comforts of home. Thank you all again for the tremendous show of support and prayers. We will update tomorrow with all the new information from the past few days.
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Day 5 - Closer to Discharge

2011-07-24T23:27:00.000-04:00

Elias continues to improve each day. He is behaving like himself and reacting appropriately to actions which is a reassurance that any brain damage is nonexistent or very limited. We have been very happy to see his rapid progress and the doctors have been surprised at the rate he has recovered. While the spinal fluid is still being tested preliminary results suggest that it is a viral meningitis that caused the seizure. They still have him on a broad spectrum of strong antibiotics to ensure they are covering every possible cause. It is likely we will never know the type and source of this. Elias has a MRI scheduled in the morning. We do not expect there to be anything significant to report and we are hoping with Elias improvement they will let us bring him home after the MRI clears him.

Showing us he is better!

One of the other interests of note brought about by this is a possible adrenal insufficiency. This is when the body does not produce adequate amounts of steroid hormones (chemicals produced by the body that regulate organ function), primarily cortisol. It has us thinking that possibly this could be contributing to Elias' breathing episodes as well. We are going to discuss this with his Pulmonologist. It is a long shot, but hey it is a lead right? Back to the insufficiency....They are doing a test in the morning that should clarify if this is indeed an issue. Elias' thyroid numbers have been creating some concern the past month or so and we had planned another check this week before all this occurred. It is possible they were pointing to this. Not that this was the cause, but for those who know Elias and followed us you know that he has a way of showing the doctors answers to questions they didn't even know they were looking for. It has been this way all his life. He is just so nonclinical in so many ways that events like these usually uncover underlying issues. Due to this Elias will likely be taking medication to help manage this. We are meeting with someone from endocrinology in the next day or so for training on stress dosing (recognizing the need for and evaluating). We are building quite the resume for training medical experiences. Elias will also be adding anti-seizure medication as well to his regiment even though they feel the seizure was caused by the meningitis and is not a source of a new issue. We will also be given some training on effectively managing him, but as they pointed out, we did a wonderful job of doing what we did despite not really knowing what to do in this case. It saved his life and maintained his quality of life.

Elias has been his usual come back kid self. We are so grateful for his will to fight and survive. This has been an experience that will impact us forever - in a positive way. Hopefully, it will clear up some other outstanding issues and we can move forward. We are diligently working towards identifying, resolving and stabilizing all of Elias medical complexities and challenges not only to improve these, but give him the best chance to survive his bone marrow transplant when that day finally arrives. His will and fight is already evident, but will his body be up to the test? We believe we are taking a huge step to help that and will continue to do so. Elias has some incredible doctors and they are going to provide him the best chances. They are looking out for him and that gives us confidence. Our faith has been tested time and time again, but we hold strong to it and look towards it to provide us with the solid foundation we need to be the best parents we can for this amazing little boy. Your support, thoughts and prayers have been nothing short of incredible these past few days especially. But we recognize and appreciate everyone of you everyday. It is not always easy, but somehow we always manage to find a way. You provide us the courage and confidence we need to face each day and tackle each new challenge for his sake. As they say..."it takes a village..." Thank you for being one of those villagers.

Out of PICU

2011-07-22T13:44:00.001-04:00

Over the past 24 hours the overall consensus amongst the doctors is that is looking to be meningitis. This morning viral was ruled out as those are complete and the appropriate medicine discontinued. They continue to treat for bacterial meningitis as we wait for more results to bring a much more clear focal point. He is also receiving a spectrum of other antibiotics to cover other potential infections. They believe this was the source. It was made very clear yesterday exactly how valuable Elias trach was. The reality is if he did not have that Elias likely would not have survived the intensity and length of seizure he had endured. That is sobering and now makes 3 times in his short life we have been close to losing him. Value each day and treasure it.

Yesterday evening Elias became more playful although weak. It is another positive sign. He is back to his home routine with the ventilator on only while he sleeps. He is still requiring oxygen around the clock. This morning he has tried to sit up a few times but doesn't last long - at least he is trying. We have asked for a PT consult which the doctors agreed would be a positive. They want to get an MRI but it doesn't look like today is going to happen. The EEG is also off for now but may be put back on tonight. Given the positives Elias was moved off the PICU onto a less acute floor. One step closer to home. That is all we know at the moment. Thank you all again for the tremendous amount of prayer and support you all have shown. It has been a terrific help during these very stressful days.

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A New Problem or One Solved?

2011-07-21T00:28:00.000-04:00

We are trained to handle many emergency scenarios with Elias. We have had to save his life repeatedly over the past 2 years as he stopped breathing, but nothing had prepared us for today. We experienced a fear and sense of helplessness that words just can not adequately express. This was the scene outside our door at 1:18pm yesterday afternoon. One we never thought we would need and hope to never again. Elias had to be rushed to the hospital via ambulance.
As we updated earlier this week he has been having another round of breathing issues. Overnight we had to put him on oxygen and the vent was breathing for him. Through the morning he had periodic spells and we dealt with them as we always do. Shortly before 1pm he stopped breathing again. Katharine was bagging him and we had oxygen on. After nearly 2 min he still wasn't breathing on his own. We decided to move him back upstairs to place him back on the ventilator. We placed him in the bed and had the oxygen and ventilator in place when we noticed that Elias was looking off with his eyes to the right. He was unresponsive to touch or hands in front of eyes. Then he began to shake and shiver all over his body, eyes still not moving. The shivering became worse and we knew what was happen, even though it had never happened before. Elias was have a full blown seizure. We called 911 and requested a squad. Elias worsened as we waited for the ambulance to arrive. Our concern grew into a bit of panic. We were watching him slip away. We were frightened beyond belief. Once Elias was moved downstairs and loaded on the ambulance they raced him to Children's Hospital. As the driver told me, don't worry we will get him there loud and fast. Katharine rode with them while I finished gathering his equipment.

Once in the ED he was taken to the trauma bay. He was continuing to seize and had not stopped. It is estimated that the seizure lasted roughly 45 minutes. While the doctors can not be certain about possible brain damage, the trach and our ability to keep him oxygenated may have saved him, not only his life, but the brain damage or at least minimize it. Sadly it is too early to tell for certain. Only time will tell us what if any is there. One positive is his reactions when they touch and pull on key points of his body. Within 50 minutes he was having a brain CT and we were rolling into the Intensive Care Unit. Initially his glucose levels were 300+ in the ambulance and had risen to over 500 in the ED. The glucose in the PICU was trending down to about 300. Seizures will cause glucose to rise, but not like that. So endocrinology moved up the ranks of priority. It was so nice to see Dr Rose walk in who is one of the most active researchers and knowledgeable endocrinologist when it comes to Fanconi Anemia. She assured us that given known FA patients glucose and insulin regulatory issues it was indeed possible that the 500 reading was all caused by the seizure. They would follow up on this, but in a day or two when he was less medicated and more stable. It is another example of the unique and pragmatic tendencies little known and understood issues within FA create problems for medical professionals who do not know about this rare disease. At least for now we can focus and worry less about that problem. The PICU team has been great and immediately sprang into action with contacting and consulting many of Elias primary specialist. Several of which personally came into evaluate him. Often times the politics and egos of the hospital interfere with that, but given the circumstances and the mystery it has been extremely reassuring thus far that all the folks that know Elias the best are on this. It makes us feel so much more confident about his chances. Right now Elias has every culture and blood test known to medicine that could remotely apply being done, including cultures. A lumbar puncture was done to test for meningitis which he is already receiving proactive antibiotics to treat should that come up positive. He is also receiving a wide spectrum of antibiotics to treat any potential infection that may have gone undetected and cause this issue. They also have an EEG hooked up that will run for sometimes. He is of course on the ventilator and it has been back and forth on the vent breathing totally for him. His settings are higher than normal and he is struggling a bit with CO2 issues. For the lumbar puncture they had to sedate him so as of now at least Elias is out. There still is a lot of uncertainty mainly is this a new problem and concern to add to the list or is this the result of the breathing issues that have evaded us? Too early to tell and Elias certainly has an uphill battle the next 24 hours and not out of the woods yet.

We are exhausted and emotionally drained. Thank you to everyone on facebook for your absolutely amazing outpouring of support and prayers. It is so amazing how many peoples lives Elias has touched. We are humbled and grateful to have such amazing family and friends. You all are the greatest and you all have helped us stay strong through this. We may put up a good front, but believe us the tears of fear have been flowing today more than ever. We will keep you updated as we can. We have no idea what is going to happen tomorrow, but we will continue to pray that Elias will pull through yet another tough battle.

Hello?

2011-07-19T18:02:00.000-04:00

This week has been horrible. It began on Sunday with the sudden passing of an FA patient from complications of the 2 bone marrow transplants he had a few years ago. Every time another FA patient earns their wings are just somber reminders of how devastating and deadly this disease is. Our prayers are with the Barbier Family as they lay Justin to rest this week. Justin's mom has been a huge support to us and through Elias' journey. Our hearts are very heavy for her loss.

On to a very serious issue and potentially disastrous problem. We received a letter in the mail yesterday that was to notify us that Elias medicaid was being discontinued due to insufficient information provided during annual re-certification. We are not even sure what was supposedly omitted? We have left two voice mails requesting a hearing on this matter, but have yet to receive a response. Tomorrow is the deadline to request a hearing with continued benefits until a final decision is reached. The letter was dated July 11, 2011 yet we received it on July 18, 2011. It should not have taken 7 days for us to get this first off, but the hearing deadline is spelled out in that letter as 10 days from the date of the letter. I will call again in the morning hoping to get a call back or better yet an actual person. If they do not call back tomorrow I am not sure we would be able to get the hearing. This is absolutely critical that Elias maintain his medicaid. Elias has capped out long ago of our primary insurance provider. Without it we are finished and Elias needed treatments are in jeopardy, not that we are not already in financial turmoil from all variables and medical expenses anyway over the past 3 years. A lapse in coverage even briefly could create issues for supplies, equipment and services. Very stressful and worrisome this is, until we get it resolved.

I can not remember if we had mentioned this in a previous update so forgive the repeat if so. It appears the school system has misplaced or temporarily not filed Elias paperwork for enrollment. Without it he can not begin services. This was turned into the guidance counselor at the school prior to the IEP meeting which was April 28th. While it is irritating that the school system office does not have this, our primary concern is the fact that turned in included copies of Social Security Card and Birth Certificate required to register. After a week to allow them time to investigate and locate the file, this week they are dodging my calls and not returning voice mails.

Which leads me to another point. We contacted GI 2 weeks ago about concerns we had. It took them a week to return our call and then we were told his GI doctor was on vacation. If they had been more timely in returning the call that wouldn't have been an issue. So medication was ordered for a week to get by until the doc returned. We were told they would call yesterday to check in and get a report to pass on when the doctor returned today. You guessed it no call. I even asked them if I needed to call in when they originally set the expected phone call up. They said oh no we are making note of it now that won't be necessary. Apparently it was. Today has come and gone without a call as well. So tomorrow first thing I get to call and find out why and what the plan to treat Elias is. His speech therapist was also a no call no show today and while I have left a message with her, again still no call back. Bottom line is that it is becoming increasingly more common for his providers to just not call. Why is that? Are we that busy and if so why would you set an expectation of calling someone and just ignoring it. That is just plain rude and unprofessional, especially when it has been more than one day overdue. I know this is a big rant but quite frankly I am disgusted by the manner in which people provide service and hap-hazardously return phone calls. Sorry for the rant I will end it there.

If all that wasn't insane and hair pulling enough Elias felt like we needed a little more stress. He has begun yet another cluster of breathing episodes. While the number of times he has stopped breathing has been lower than normal (thank God) with everything else, particularly the medicaid problem, everything is a bit more charged. Poor Elias. We hate seeing him like this. It just sucks the life out of him. Hopefully the week will improve, but for now we just watch over Elias and try to go on with business as usual.

Art Show Benefit

2011-07-08T15:37:00.002-04:00

Last week was a huge week for Elias. His outing to the zoo, Grandma M & Uncle Ryan visiting, and of course our the Art Show Fundraiser that was being put on to benefit Elias and Fanconi Anemia Research. With all that going on we paid for it this week being bogged down with a little more intense schedule to make up for the previous week. All well worth it. The week was amazing for Elias!
Elias was in attendance at the Art Show. We again struggled with the decision to break the rules for the second time in three days. Given the importance of the event, the setting, and a mostly adult attendance we felt like we could really control the environment. Elias was certainly the man of the evening. Dressed in a light blue dress shirt with navy pants and his red Mickey Mouse power tie, Elias captured many hearts. He was adorable! If you follow us on Facebook you may have caught some photos through the course of the evening. If not Do not Fret. You can check the ones we had the opportunity to capture here. He made it through most of the evening before we had to change him. It was very hot with all the people. Towards the end of the night there were raffle giveaways. It was decided that Elias would do the honors of picking the names out of the box. You can see a video clip here of one of the drawings. The event was wonderful. We had an opportunity to explain and share FA with people as well as witness some amazing art work. The group of artist that put this all together did an amazing job and we are very thankful for their time and talents. The show runs for a month. It was a very touching and humbling experience. Elias was received so positively and inspired many. There are so many businesses that donated items, individuals that volunteered and people that deserve a huge amount of thanks. To everyone that participated at any level and attended, we are most gracious for your support.
As we said a very exciting week and Elias did remarkably well. It was worth breaking the rules a little and taking a chance. While it was a success it is something we can not allow ourselves to be lured into a false sense of security. We may try another outing in the Fall to the aquarium, but until then it is back to normal with protective isolation. We were blessed to have these opportunities and Elias had a wonderful time. We will venture out again in time, we just do not want to press our luck. The ability to appreciate this is much more rich because of the circumstances. Thanks to all for the wonderful showing of support and comments. We hope his experiences touched your lives and hearts as much as it touched ours.

Elias' First Grand Adventure

2011-06-30T23:14:00.000-04:00

Yesterday was a day we will never forget. We broke the rules a little and pushed the envelop. With Grandma M here for a visit we decided that if the sun, moon and starts lined up we would take Elias to the Zoo! With all his medical issues and his tenuous airway, Elias is really not able to safely be in public. At the same time he deserved this opportunity. The weather was perfect. Low pollen, mid-80's, sunny, no humidity...everything we needed to make it a reality and it happened. Elias had an AMAZING TIME. We focused so much on him and how he was taking it all in we do not remember much about the exhibits. It was so nice and beyond words. The highlight was the tigers and monkeys for Elias. He enjoyed them the most it seems. We made it about 4 hours before it became too much. It was also a great place to go because it is literally right behind the hospital, so that was comforting to know if we failed he was close to help. It took a lot of finagling of his feedings and extra fluids for hydration, along with lugging all the emergency gear, O2, suction, etc but so worth it. It is not something we can do often, but we will treasure this memory. We have posted some unedited photos to share. We will work on cleaning them and cropping etc later, but these are too good not to share. We hope that you enjoy these.

Elias at the Zoo!

2011-06-27T12:21:00.000-04:00

It is becoming more and more challenging to keep this blog updated. It seems as of late the schedule has been so hectic along with "stuff" (like Elias not breathing for example) just hitting us with the old 1-2! The fall isn't shaping up to be any easier, in fact it will be more nuts with the addition a preschool services here at home. We have been exploring other possibilities that might be easier, for instant - audio updates. If anyone has any suggestions we are open.

Since the last update Elias has had several more clusters of breathing episodes. Usually on the weekends it seems. It is as if he knows! Last weekend they began Friday at 4:30 and continued through Sunday Morning. So he has now had periods where he stops breathing 4 out of the past 6 weeks. This is the most frequent we have seen them in quite a while. All we can do is manage and try to keep the stress to a minimum during those times.

Elias has had a few sessions with his new speech therapist. It is a growing process and will take some time for them to learn to work with each other, but there has been some positive things already. We are working to expand his vocabulary with the picture exchange. At times the little stinker will turn it into a game of keep away as he smirks at you. He is a joker so watch out. In his listening therapy yesterday we witnessed something very interesting. She had a plane and a train. She showed and played with each individually with him. With airplane she would make an 'ah' sound before showing the plane. Then in the same manner did a Choo Choo sound with the train. She then presented both but rather than ask which one he wanted she made the ah sound, in hopes he would choose the airplane, and he did. We were not convinced fully that this was not merely a coincidence, so she did it again. Same result. So to try and substantiate what we saw she presented the two again, but this time made the Choo Choo sound. Elias just looked at her and did not do anything. She made the sounds again. After a few times he finally reached begrudgingly and touched the train, as if to say okay okay there is the train can we move on. So we are going to try that experiment over the next few weeks to prove it was not an accident. That he is beginning, ever so slowly to recognize even more sounds and correlated them to the appropriate item. If he continues to prove this theory correct it would be a HUGE step. So here is to praying it was real and effective.

Another issue keeping us from the blog updates is constantly having to chase down and follow-up on things that we are told have been done or should be done by various providers. One example, we are having issues once again with Elias' prevacid an the insurance needing prior authorization. The problem hasn't been so much getting the authorization in as it has been getting to the right person. This is due to the incompetence of the pharmacy providing us with the wrong information on what was needed, not once, not twice, but three times in the past 10 days. On top of that they have contradicted themselves in the information proving that at times they were just saying whatever to placate us and move us on for the moment. Ultimately this has cost them our business and frustrated the doctors office handling the PA, as they caused them 3 times as much work, most of which was not necessary. The part that truly angered us was not only the deception, but the lack of concern or willingness to ensure the information was communicated in a timely manner, as this medicine for Elias is potentially life or death. Why? One of the theories behind the breathing episodes is that reflux temporarily paralyzes the vocal chords, which creates a reaction causing him to stop breathing. He did have a cluster of episodes in the 10 days he has been without. Hard to say for sure, but if that is a physicians theory on the table for the unexplained along with very few others, you tend to take them serious, despite what you believe. Fortunately this morning we have filled the Prevacid and he will be receiving this once again.

This past weekend Katharine's mom and brother came to town for a visit. They will be with us for a week. Katharine's Aunt, Grandmother, and cousin flew up on Friday to surprise everyone. They were here until Sunday. It was a fun time surrounded by family. Elias was having such a blast. He barely stopped the whole weekend. He did have a blip on Saturday night, and was not doing so well, but bounced back by morning. Just reminding us that he is still medically complex is all. He showed off and demonstrated all the wonderful skills he is learning. The bubbles with the picture exchange for communication was by far the crowd favorite. There are some photos that we will work on putting up soon. We will update when we can and who knows maybe we will figure out an easier way. As we said we are open to suggestions if anyone has any.

Bone Marrow Biopsy Results

2011-06-16T13:39:00.000-04:00

We heard back from the FA clinic at Children's with the final results of the bone marrow testing that was done last week while Elias was in the O.R. All the test have come back normal and within acceptable limits. That is the positive news. Elias' cellularity is low though at only about 20%. The doctors have commented that this is a relatively new focus for information and they have not determined exactly how to interpret these results completely with every patient. There is a bit of a learning curve with variables impacting the interpretations. Those numbers are something they see in someone with much lower counts, so watching Elias, who's counts are fairly normal and stable is making this more of an "interesting find." They will be watching this closely. Elias' platelets have dropped overall, but still well above a level of concern. They have been trending up and down since November when the dropped to 85k after the failed colostomy reversal surgery. They had risen back to his baseline of 215k but the past several months they have declined and are holding steady at 150k. For reference when he gets to 50k is when the radar gradually starts to tick for bone marrow transplant. No one is concerned too much with the new lower baseline. A decline is expected and this is likely the natural course. One thing that is possible, but not proven is that with the lower cellularity the numbers could plummet vs gradually decline, but that is something they have yet to establish. They admittedly are not use to seeing patients with numbers as good as Elias. That is the beauty of rare disease and treating patients with so many variables. We are fortunate enough to have such dedicated doctors that will account for any and all possibilities. This provides all the other issues the time we need to get Elias as strong as possible with all the other affected systems to give him his best chance during transplant. Overall these results were what they expected and they are pleased. Elias continues to thrive developmentally and we are taking the time to appreciate all he is achieving. Here is a video we posted last night showing how happy he is and how much fun he has when he is feeling great! You can't help but smile when you watch this.

The Day After

2011-06-09T16:40:00.001-04:00

Elias had another trip to the OR yesterday. This was all the standard follow-up procedures he has from time to time. He did very well during the 6 procedures that lasted around 2 1/2 hours. He woke up from anesthesia in typical fashion with a baseline of lower than normal O2 sats, but he quickly pulled them up by the end of the night. All the doctors were please with what they saw, at least those that could report.

Pulmonary & ENT are happy with Elias airway, that is in Elias standards. There is evidence of slight improvement in the compression, but nothing to get overly excited about. However, with Elias and his airway the smallest of victories is welcomed. Growth still is going to be his best ally towards achieving much improvement. That is something he has struggled with so that will not likely be helping anytime soon. Overall they said given Elias history they would accept this as the most positive overall bronchoscopy & ML&B they have performed. GI scoped him all the way to the small intestines and found no evidence of any fungal infections (which was a concern with all the antibiotics he has been on) or any thing out of the ordinary - again for Elias standards. The TEF repair site continues to look great and the stricture was not in need of dilation. His Nissen looks good as does his G-tube placement. The small intestines were a little tight, but that was expected with the failed colostomy take down and herniation of his bowel. We did not get to speak with Urology so we have nothing to report as of yet and it will be a week or two before we get results from his bone marrow biopsy & aspirate. He has been doing well today, a little tired from lack of nutrition yesterday, but overall his typical playful and happy self. We will update soon when we begin to have results come in from the testing.

other various sundries

2011-06-01T13:42:00.001-04:00

Once again Elias’ blog has been unintentionally neglected. Tons of stuff going on with him right now, both medically and developmentally. We did get our IEP written for Elias to begin pre-school at home this fall. The doctors have said that it will be several years before they will likely seriously consider allowing him in a classroom, but there is the reality it may never happen at all. At home he will have physical, occupational, and speech therapies a few times a month through the schools. He will have an assistive technology person, who coincidently also happens to be a hearing impaired teacher and a pre-school teacher that will come in once a week. Between all those appointments, plus his other PT, OT, & SLP in addition to the therapies at Children’s that alone is going to keep us booked. Throw in the medical and we are in for a challenge. This IEP was rather straight forward and simple to put together. We are removing the cognitive and social elements from his education plan at this time as it is not appropriate for him at the moment. While we were initially surprised with how much service we were able to get, we have been warned to be cautiously optimistic that will remain that way. It has been strongly recommended that in the coming years we get a lawyer that specializes in this area to help with the process. There are advocates out there for parents, but a few trusted sources have said with Elias’ needs we need that extra notch to help oversight and push for his educational needs to be met. As with everything, despite some of the horrible tales, we are taking in everything with an open mind and filtering the lessons learned by us and others. Overall though it appears we are in a good school system for him and we feel positive about beginning this fall.

Medically, Elias is Elias. the good come with the bad and that is all you can hope for. He has had several episodes over the past 3 weeks where he has stopped breathing. It has been since March since we experienced this. He has been keeping us on our toes that is for sure. We are scrambling and cramming in appointments as Elias is having a list of surgeries next week. Why are we scrambling? because GI wanted to (back in March) move his already scheduled surgery up (originally set for June) sooner because of some issues they want to explore inside. It seems as though someone dropped the ball and if it had not been for us following up constantly, we’d still be waiting for a date. So now we are having the surgery about the same times as we would have had we let the airway team dictate. It has been a cluster and frustrating the lack of a plan GI has had with everything. But that is what we are use to and have learned that we much constantly follow up with almost all of his providers for things. It is amazing how much time that takes, which has been a major contributor to the blog being neglected. This round of surgeries has the typical airway bronchoscopies to assess his airway, an GI scope to help with some issues we are having in that area. He will have a cystogram and urethral dilation by urology. They will also be assessing his hypospadias and genitalia region for some potential corrective surgery plans. Finally there will be his annual bone marrow biopsy which checks for early signs of cancer and failure of the marrow among other useful info. There will also be a skin biopsy for a FA research project in New York. It will take a few weeks to hear back on the Bone Marrow results. We do not expect any surprises, but you can never be too cautious with FA. In the near future Elias will also have another MRI as well. We believe that about covers the surface of what is going on the past several unreported weeks. We will certainly try to do better.

Played Nice

2011-05-14T23:43:00.000-04:00

Elias kept things even keel today. There were no episodes, so this round appears to be behind us. We will say that compared to what we are use to seeing this round had some pretty frightening moments. One of the episodes had his oxygen sats dropping to 10%!! Yikes!!! One of our friends commented on the verbage "used to" who is used to their child not breathing? Our response...Good Point!

Deep Breaths

2011-05-13T21:19:00.001-04:00

Elias has improved over the course of this evening. We were able to take him off the ventilator and oxygen, but had to shortly after put him back. Then he improved again and has stayed fairly happy and "typical" if that even exists in his world. He even was able to skype with grandma for a few minutes. While we hope the end has arrived for this round, as we learned earlier he will turn on you in a flash. So here is to a night full of boring breaths and a weekend of nothing!

We will keep you posted of any changes. Thanks to all for the thoughts and prayers for our little man. We leave you with a mental image...Elias Tap Dancing??

Breathing or the lack there of

2011-05-13T14:32:00.001-04:00

Just a quick update. Today has not been a good day. It is a harsh reminder how things can be great one moment and the next moment everything is crazy. Elias began having his episodes again where he just stops breathing. The first one this morning was the worst we have ever seen in terms of how blue he was. We hoped it would be one of those day where it happens once or twice and we move on. Elias has other plans! He has already had several episodes to this point today and we had to make the decision to put him on the ventilator this morning (typically only uses it at night). We decided with his Pulmonary doctor after the last round that this was a good management option. Unfortunately, even with an increase in the breaths per minute Elias is having difficulty maintaining his oxygen saturation levels. We have had to place him on oxygen in addition to the ventilator. We have tried to wean through the afternoon, but have been unsuccessful. His little body just isn’t handling things without it right now. He has been letting the vent do most of the breathing for him. He may just be so zapped of energy that he is allowing the machine to do all the work. We will keep you posted as things change. Please keep Elias in your prayers that this passes quickly.

Gone Fishing?

2011-05-07T17:25:00.000-04:00

We have been neglectful of Elias' blog. It has been both unintentional and unavoidable. There has been so many different things involving him going on. Between all the school meetings, transitions in and out of programs, and medical "stuff" we have been absolutely jam packed. Hopefully we will get back into a routine that is less chaotic and will allow more opportunities to update. There really is a lot to share, but we are going to have to space it out. There is simply too much for one post. We will start with the latest milestone.

Sunday - May 1st - was Elias' 3rd birthday and anyone who has been following over the years now that something always happens. Last year was the worst and a resuscitation display for our guests when Elias stopped breathing over 15 times. The year before that Elias was sick and having difficulties. This year he got all his issues out of the way early. The weekend before he was very ill. We had our hands full, but managed to keep him out of the hospital the first half of the week and he finally began to turn the corner. By Sunday he was back to his self. Because of the history surrounding his birthday we kept the day low-key. Elias can't eat cake - since he is tube fed. He cannot really socialize with other kids because of the issues with his airway and immune system so there was no party. And he has no concept of what a birthdays are since we have a very limited communication system with him because of his hearing loss. So that was a recipe for just being together as a family, opening a few gifts and going about our day as normal. His cares schedule has ramped up with meds, feeds and extra fluid and pedialyte that he gets so little time off the feeding pump. So he wasn't able to play with his stuff too much. Even when he had the chance he was more interested in running around the house. There is little room for adjustment unfortunately, but that is the life of a complex medical child and we are fine with that. Elias was fine with that. He was happy all day and that is all that matters.

A Request for Elias!

2011-04-22T14:08:00.000-04:00

One of the most common things commented to us about Elias is his smile. Lord only knows how this child that has endured so much and will continue to be challenged with manages to keep a smile on his face 99% of the time. Well here are two opportunities to help keep Elias smiling.

The first is for our Facebook followers. Chase community giving has begun it's yearly voting contest. The first round goes until May 4, 2011. It takes 2 seconds to follow this link & follow the directions to Vote for the Fanconi Anemia Research Fund. You are going to want to see this because Elias photo is the one EVERYONE sees. One look at his adorable face and he will capture your heart! We know, we see it happen a lot! The top 100 organizations $25,000 and continue on to another round. That is $25,000 for research that just might one day provide a cure for Elias and others with FA. There is a lot of groups and the only way we have a chance is to capture every opportunity. So please after you vote won't you please share this with your friends.

Speaking of friends, here is the second opportunity to help Elias smile more! In celebration of International Fanconi Anemia Day which is May 1st (also Elias! 3rd birthday) we want to remind you all of the online donation challenge. You all know 10 people right? Each of them know 10 people. That is 100 potential donors just like that and $10 is all you are asking. 100 people @ $10 is $1,000. Follow the math and see that 100 of us initiate this challenge and pushing it we would bring in $100 thousand dollars for research. The beauty of this is that we all know more than 10 people. A huge thank you to all who have already donated.

Remember, Fanconi Anemia research is not only helping patients with FA, but it is positively impacting various cancer research as well. Breast, prostate, ovarian, & head and neck cancers are among them. Without FA research some of the advances in their research may not yet have been discovered or more slowly developed. So fanconi anemia research has the potential to reach and help millions in the general population. We thank you for your support with Elias! as well as these two activities.

Rough Weekend for Elias!

2011-04-17T13:23:00.001-04:00

Friday was a long day at the hospital. Elias had IVIG and a renal ultrasound. Both routine follow-ups. Now that flu, RSV, and cold season is behind us Dr Mehta, his BMT doctor is wanting to see if we can go longer between infusions, at least through the summer. We will know next month after they do a trough on his IGG level if we can do this. His renal ultrasound was a routine check to evaluate his kidney reflux. We will likely hear something back with a report next week. With each IVIG they always check his blood counts and do a renal panel mostly to check hydration, but it also provides some other valuable information as well. This time GI was particularly interested in BUN which measures the nitrogen in the kidneys. That level provides function information basically. As we updated last week, Elias’ is pretty elevated, probably from one of the medications he had been on. We added 100mL water flush each day in addition to 120mL of pedialyte. His BUN came down from 25 to 23. the high accepted normal is 17. Not happy with the minimal reduction we have increased the pedialyte to 200mL per day. Elias is now getting an extra 300mL of fluid per day in addition to his feeds. The water we can spread through the day by flushing his G-Tube. The pedialyte has to be pushed through the pump because of the large amount. This sadly means more time on the feeding pump which he much be contained in his playpen for and less time out playing and developing. It is also getting difficult to coordinate with his therapy time as the newest med, feed, & fluid schedule has very little shifting room. Hopefully the pedialyte will not be around for very long.

Elias has been having a rough weekend. Again with all the changes and other factors that potentially influence his health day to day we are having a difficult time pinpointing the real issue. IVIG sometimes can give intense headaches as a side effect and we are thinking that was also something he was battling. Times like this we wish he could tell us what is bothering him. We have had to suction him a great deal more than usual and last night the vent was very uncomfortable to him, suggesting there might be some respiratory issue brewing. There has been some improvement today, but he is obviously not on his “A” game. We will continue to hope that he follows this upward trend.

We got a call last week confirming all the participants in the “operating room party” for Elias. We should be getting a date soon on when all that will be, likely next month sometime. This week is likely to be slammed with things going on. In addition to the 6 already scheduled appointments we are expecting at least 2-3 more before the week is out. We also are chasing reports down that are needed to be turned in for Elias’ IEP meeting which is next Tuesday. Lots of time on the phone! We also have an exit assessment and some transition meetings that have to be scheduled in the next 2 weeks before Elias turns three. Even though we have tried to be pro-active on much of this stuff, the way many of these systems work force things into a last minute priority event. It is crazy how back-logged some of these processes are. Thanks for checking in and we will update when we can this week.

Creating Total Communication for Elias!

2011-04-13T14:27:00.001-04:00

As you know we have been working with Elias to develop a total communication system because of his hearing loss and limited response to amplification. It has been quite a process that has involved 3 audiologists, 2 speech therapists, 2 occupational therapists, 1 assistive technology therapist, 1 aural rehab specialist and 2 doctors –ENT & Developmental Pediatrician. All of these 11 individuals had a different role necessary to create a system that will enable Elias to effectively communicate through various means and methods. It has taken more than a year with this enormous team to finally achieve some success.

What is total communication? This is a system that incorporates various modes of communication. Sign Language, auditory Language, picture exchange, and assistive technology –use of computers, switches & other various devices. We have been steadily working on each of these components to develop Elias’ total communication process. At times this process has been frustrating for all involved, including Elias! With so many hands in the cookie jar and nothing to facilitate bringing them all together there were differing interpretations and implementations of strategies. Some of these were contradictory and went undetected for some time. Reflecting back that has had both positive and negative effects. The positive effects were that tools were given to Elias, but at potentially inappropriate times. Putting the cart before the horse is you will. It was prudent and appropriate when focused on isolated roles, but putting the big picture together it did not always fit. Eventually, these tools would become appropriate. It was just making him understand that he already knew this, it was just being used in a different context from what he was used to. While this is seen in many areas of development with communication it was making things harder for us often times confusing him to a point we would have to regress to build it back in appropriately.

The past few weeks there has been a very assertive drive for getting him to understand the intent with picture exchange. This is going to be the most significant and useful source for him to build vocabulary and consistent coherent communication. Then the other elements can begin to really expand giving him more options. This week Elias has proven that he has that intent skill mastered. His two biggest motivators are bubbles and swing. He consistently will request these when we stop the activity. He does this by picking up a picture – in these cases of bubbles or his swing. He then hands us the picture which tells us he wants this or desires more. When he refuses to hand it to us the activity is all done and stopped. Now at times his refusal is legit and he is truly finished. At times though he is just asserting himself and his will to be in control. This was a great step as we have broken through the first huge barrier. Now that this skill is in place we can begin to work on expanding his vocabulary. This concept is much like you would with a child with normal hearing. The difference for us is we will be using appropriate corresponding pictures to teach him versus the verbal reinforcement. For example, when a child picks up a book we say, “oh you have a book. Do you want to read a book?” Parents reinforce the word over and over. For Elias we will do the same but show the picture and sign as well. We will trade the card for the book and ask him to return the card by placing our hand out. When he gives it to us we return the book reinforcing the intent skill and teaching him this picture means book. After he demonstrates this through repetition we will then place a choice of 2 pictures. One being the book and another, say a ball. The hope is Elias will see the physical book and choose that photo. Again repeated demonstration of correctly choosing defines an additional vocabulary word. Should he choose the ball picture then he will get the ball instead. Not being what he wants we hope to train him to understand that using the appropriate picture is vital to communicating what he wants.

There have been some interesting lessons from this process so far. One of which is as a parent advocate you have to be very open to identify potential conflict in strategies. Easier said than done, after all we are not the experts. That is the reason these individuals are working with him. It is also fair to say that everyone did their job appropriately and well. They were focused, as they should, on their particular element and had very little knowledge of what the others were doing. Certainly it is difficult to work within the confines of a team that large for one specific issue without the luxury of communicating with each other. This is still a long process, much like his hearing will be, but breaking through this hurdle was huge. The timing is especially great as we transition in the coming weeks to 2 new speech therapists. Being at a new starting point hopefully will make that transition easier. Two more new schools of thought could have been rough in trying to get that skill to emerge. We feel this gives us a fresh slate with a new focus that should help keep this rolling in a positive direction. We are proud of Elias and all that he is accomplishing. He is a bright little guy with the desire to learn – as long as it is on his terms (Hahaha).

Medical Regrouping and Pre-school considerations

2011-04-08T15:39:00.001-04:00

After last weeks chaos medically we have finally regrouped and are working towards a solution. Here is what we learned. The C-diff is still active so we must go back on the vancomycin for a month this time 4 times a day. Afterward we will taper or pulse dose. With the feeding issue that had disappeared returning GI wants to push the timeline up on the surgeries so he can do a scope in the O.R. and try to figure out what is going on in there. This could be as early as the end of this month.

One possibility is that Elias needs another esophageal dilatation because the stricture has tightened. It has been quite some time since his last one. There could also be a fungal/yeast colonization in his digestive tract from all the heavy and constant antibiotics Elias has been on through his brief life. In the meantime we have also added Zofran to the growing list of medications. Zofran is used to prevent nausea and vomiting caused by cancer chemotherapy, radiation therapy and surgery. it is in a class of medications called 5-HT3 receptor antagonists. It works by blocking the action of serotonin, a natural substance that may cause nausea and vomiting. So far it has worked as a temporary fix until the scopes provide more information. We are getting ready to add the Bactrim back for his kidney reflux. Urology did not want to wait until his upcoming renal ultrasound unprotected. We are going to see if the same symptoms appear and if so then we will have to go back to furndantin. Another issue with all these medications has been the effects on the liver, while not alarming they are elevated to a point where the FA doctors want to act on them. We added an extra 100 mLs of water to his daily intake. Since we were having blood drawn GI asked for a renal panel as well with their interest being in the BUN which reflects the work load of the kidneys. Elias’ has been trending up. 17 is the high for normal, his are at 25. So we are adding an additional 80-120 mLs of pedialyte as well. This is kind of disappointing because it means more time on the feeding pump and less time to run and play. While it may not sound like much additional fluid, for Elias and the volume he can tolerate 120 mLs could take 45 min to push inside. he is too small to carry the backpack for the feeding pump so we have to contain him in his playpen for feedings. We are going to have to sit down tonight and really look at his schedule and make some tough adjustments to balance this all. The extra pedialyte is hopefully temporary and a check of his BUN at his next IVIG will tell us if this is helping or not. We were due for this, we were getting comfortable with the schedule we have Hahaha! Hopefully, we have spaced all these changes and additions out this week to keep things clear as to what is causing what issues, if any at all. That would be the preference.

On top of all this we managed to have a productive meeting with the school system about Elias and preschool. There was a panel of 9 therapists, teachers, psychologists and counselors in attendance in addition to Elias lead therapist for early intervention. They are able to begin him with services in the fall that are developmental in nature. We will be leaving the cognitive and social components out for now. With all the confusion from the left hand not knowing what the right is doing we have until may 1st to write and Individualized Education Plan (IEP). There must also be a few assessments before the meeting as well as observations. All this has to be done in 2 weeks! Our already tight schedule just got PACKED! We learned that had Elias been approved for the intensive level evaluation it would have made the process much easier and more beneficial. However, because of that denial we will be busting our tails to complete a process we tried to be proactive with, but were led to be convinced wasn’t the best option. We felt very good walking out of the meeting with the potential that his offers for Elias. He will be homebound of course. Pulmonary says no to being out in public still. We will update more on this in the coming weeks as we begin to learn more, but feel this is a positive and beneficial step for Elias!

Support Elias! & International Fanconi Anemia Day

2011-04-03T08:16:00.001-04:00

May 1st will be the Second Annual International Fanconi Anemia Day. There is an online challenge set up in celebration. Please support and honor Elias! by participating and carrying out the challenge. This is a wonderful way to pay tribute to Elias! for his birthday, which is also May 1st. This fundraiser has potential to be very significant if everyone participates and follows through. It takes minimal effort and minimal a minimal amount. A cure must be found so we do not lose more children!

Here is how it works -

Donate a minimum of $10 then share this and challenge at least 10 of your co-workers, friends and family to do the same. Use email, Facebook, Twitter, Blogs, Websites, shout it from the top of a mountain, or any other method you can dream up to spread the word and ask them to follow your lead. The challenge is not complete yet. Each person you reach out to also needs to inspire 10 of their friends to donate and so on. If everyone follows through and meets the challenge, your simple $10 beginning will be responsible for $1000+ for desperately needed Fanconi Anemia research. Take the time, it only takes a few moments. Make the easy effort to follow through. Most everyone can find more than 10 people to complete this challenge. **When making your donation please check the “add a dedication” box and in addition to honoring Elias! please also add “FA Day Challenge” to assist the research fund to properly attribute where each donation originates. Thank you for your assistance.

Changes & Clouded Medical Issues

2011-03-31T09:20:00.001-04:00

Wow, it has been nearly three weeks since we last updated. It has been pretty busy and we are still focusing on the major decision about Preschool in addition to transitioning to a different therapy program since he ages out of early intervention on May 1st. We have also had some medical changes that have led us to the all too familiar corner trying to determine if the chicken or the egg came first. Several issues presenting after a few changes that all could be contributing factors.

To condense the insanity we will cover this like the end of a Scooby Doo episode, where they recap the clues that ultimately led them to capturing the bad guy. The vancomycin is done last week which was treating the chronic c-diff. We completed the Diflucan course (been on since Dec.) about 2 weeks ago which was treating the feeding issues (retching/vomiting at end of feeds). The FA doctors noticed his liver levels trending up. It is believed to be caused by the diflucan and they order extra daily fluid, via GI. It took GI a week to finally respond despite push from both us and the FA team. An appropriate level of extra daily fluid is now being given. Urology also decided to switch from the furindantin to Bactrim for his UTI prophylaxis. Despite Bactrim being a marrow suppressant, the FA doctors are alright with the use for now and will monitor his counts. All of this takes place in about a 2 week period. Then the problems start occurring. Typically, after 48-72 hours the c-diff returns beginning with increased stool output and diarrhea so we are always watching for that. Bactrim is rough on the stomach so when we see the “1st signs” of c-diff we hold off because it is probably the Bactrim causing this. Elias has trouble with fluids going in rapidly, it makes his retch and vomit, but so does this specific yeast-type colonization (inside no doubt so you can’t see for sure). Which was what the diflucan treats. We are pushing an extra 30 ml of fluid at the end of each feed, diflucan has been off for 2 weeks – now he starts retching and vomiting again with his feeds. could be the fluid, could be he needs diflucan. Are you beginning to see where this is going? All the changes so close together resurfacing symptoms we were just treating, but could also be caused by the new additions has us pulling our hair out to determine what came first the chicken or the egg. Elias has been off the past two weeks with extreme highs and lows in his energy. At first we contributed to the adjustment of the new antibiotic. After a week though this should be improving. If GI would have contacted us in a more timely manner everything would not have been happening at once and the picture might be a little clearer, but now we are having to go through this trial and error phase that will take us months to work through before we are able to determine the root of the problem and fix it. The feeding issue started in July, but it too until December before treatment began, because you could blame the symptoms on other things. Oh what fun it can be.

As we said Elias has had highs and lows. He just doesn’t have much energy, it goes quickly and at times during the day he just lays there without moving. Somewhat concerning of course. His Therapies the past week have all been washes because of how he has felt. He has been grouchy at time – understandably and his stomach is bothering him we are pretty certain. Yesterday we noticed his colostomy stoma is inflamed – likely due to the increased diarrhea. We have posted a few videos and some photos during his good moments. Other than all those things going on Elias seems to be doing well. We will be having another round of surgeries soon. We are gathering all the interested parties to coordinate a date.

The only other thing going on has been the transition from early intervention into other therapy systems and the decision for pre-school which Elias is slated to start this year. We have a meeting next week with the schools and are hoping to get some clarity on some concerns we have based on information presented to us. We will update on this more next week. There are too many variables at this point and Elias would be “home-bound” and not approved by his doctors to attend school. This may very well be the way it is for years. We are looking forward to this meeting and getting answers from the people directly involved rather than indirectly, which is how we have received information up to now.

2011-03-11T14:24:00.000-05:00

The past week or so has been a bit low for us after suffering a key advocacy defeat on a very important issue for Elias. As we went through the paces of contesting the decision the more people we discussed this with, the more demoralizing this whole effort has become. Even his medical team that strongly recommended this is struggling to come up with the next step.

This process has consumed much of the past week. The more people we end up talking with the more depressing the issue has become. Without going into details, the bottom line is as parents and advocates you can trust that no one has your child’s interest at heart. We have learned that even if you follow-up proactively to ensure all is being done in a timely manner, you must go a step beyond and request proof. A person’s word is worth nothing! Fortunately for us we have some of those words in writing via email communications. That may be the one thing that brings any form of justice out of this, but that is unlikely. We would encourage every parent that advocates in any manner to make written communication the preferred method. Any verbal communication should be followed-up with a written synopsis initiated by yourself to summarize your understanding of the discussion and the intended actions. Ask for clarification that your synopsis and understanding is correct. This will provide evidence of misunderstandings & potential deception, because as in our case writing it did not create a conscience of accountability. We were told what we wanted to hear, and deceived on how things were being handled. We have learned the timeline we have been lead to believe was not accurate and it appears the request for more material was not requested by those involved in the decision. This put us up against his age out date which was used as one of the main points for denial. So was the extra information needed? That is something we can not get a clear definition because it cost valuable time that potentially contributed in part to the denial, which is very ironic. It was a lesson learned, but at an expensive price. As tough advocates we have just been made even more vigilant. We hope that our lesson will reach other parents/advocates and they will benefit in a positive manner. It really doesn’t matter what the advocacy is for, it applies to all scenarios.

Elias has been better this week. He is still battling some minor respiratory issues, but at least he is breathing on his own. We have had some varying weather systems moving in and out of the area the past week and have noticed it affecting Elias. This is something we have seen in the past but have never been able to fully connect. So we are tracking that again. There have been some days that he just lays there and doesn’t do much. We did have a GI appointment yesterday. He has decided he wants to scope Elias again. Mainly he just wants to make sure everything is looking fine on the inside and that his esophagus does not need to be dilated. This will happen with the next airway bronchoscopies in a few months to minimize the times he has to go under anesthesia. His weight has dropped a little again despite increasing his total daily volume. The extra calories have helped his energy level though, that is a positive. Elias dropped just below 18 lbs which is about 8.3 kg. Since July 2010 he has been hovering around 8 –8.4 kg. That is 17.5-18 lbs. On Elias’ 2nd birthday, last May he had just broken 17 lbs. So it seems we are on pace to only have gained 1 lbs in a year and believe it or not he has only grown 2 inches! That surprised us as we reflected back on the numbers. To put that size in perspective, that is about the size of a 9-12 month old. We do not mind that Elias is, well tiny seems appropriate, we just need him to grow for his airway to even have a chance to improve. The FA endocrinologist say Elias is even small for FA standards, but they are hesitant to pursue any therapeutic options at the moment. Maybe that is what makes everything he does look so darn cute!

Denial by cookie cutter

2011-03-02T22:21:00.001-05:00

When you make a cookie with a cookie cutter you spread your dough out flat then place the cutter shape and press firmly down. You them remove the excess dough from around the cookie cutter leaving only the cut shape. You are discarding the left over dough for it is not necessary to create the desired shape. Now think of this process again, except the dough represents a child, the cutter shape the portion that the bureaucracy – or bureaucrazy as I call them – wants to look at. They make their shape and discard the rest of the child for consideration. I call this the cookie cutter effect.

I despise this widely used concept among complex medical needs children. If your child has a rare disease or set of complexities, like Elias they only matter if they fit that shape. Otherwise they are not even considered – they are discarded and not part of the picture. It is very frustrating. Tonight we were again victim of the cookie cutter effect. We were denied the opportunity for an intensive level evaluation that is medical team and therapist, lead by his developmental pediatrician have highly recommended. Ironically, his lead doctor in this area is one of the few that perform these for the state, so she is very in tune with the advantages, values, and necessities this presents. Yet her expertise was never regarded – not her fault. The ~~bureaucraps~~ bureaucrats are only looking at a freaking piece of paper & relying on notes. He is a little boy you idiots, look at him not the stupid file! One of the main reasons for the denial was unknowledgeable coordinators, poor timing with legislative “emergency regulations” and following the poor advice of those put in place to lead us through this failed system. We learned today that the timeline for submission of time sensitive material was compromised and we were deceived into believing that everything was on target. That gave them their 1st out – too close to his 3rd birthday with insufficient time to implement any gains from the evaluation. That is all administrative foul ups and can potentially be fought. However, the clincher was the fact that none of his providers (therapist mainly) noted any challenges relating to meeting his goals. Mainly in the speech and communication department. Everyone is scratching their head trying to figure out how to get him to use a communication book….HELLO that is challenge no one at 3 agencies can figure out. As we were told today, “There is a learning curve to this new process and providers are going to have to be more accurate in documentation.” Great so Elias is victim to a “learning curve” because you bureaucrats can not figure your head from your ~~ass~~ nevermind. These are real children that are affected by you taking your sweet time learning. They read his limited response to sound and cited that as improvement that contradicts a need for evaluation.

Early Intervention is designed to help the family build a foundation that puts the child on a path to succeed. In Elias’ case many approaches have been attempted but there has been limited success. A focused and centralized approach is necessary among the disciplines. It would have given information towards us having more effective use of the 58 days we have left and provide a roadmap for success. But Elias didn’t fit the cookie cutter well enough to be approved. The system lacked clarity and transparency along with the coordinator’s breeching the integrity with untimely submissions. Elias has never been at a medically stable point to attempt this before now. He has spent half his life in a hospital bed for God’s sake. On May 1 he turns 3 and is ineligible for service. He will have only received 17 out of 36 months of what the system defines as “valuable intervention.” That is less than half! In his most needed area, speech, he will only have benefited from 10 total months, because in Maryland they said it was not age appropriate. Another false leading!So because he has a disease and medical complexities that force him in and out of a hospital he is punished by taking the time away. How is this an effective model for complex medical needs children? You could at least offer this final opportunity to gain some insight. These bureaucrats never saw Elias as a child, just as somewhere to cut. They never looked at the whole picture including the number of months he spent in a hospital or how many surgeries. For a program that is designed to protect the interest of those with disabilities and provide a stronger foundation to help offset future education costs, for Elias early intervention has been a failure. Based on all the “scoring” Elias is only at a 12-14 month developmental stage. We know he is capable of more but that is the system they use to grade. He is barely at 1/3 his age level according to this, yet you deny? Ignorance!

It is a shame the therapist that help Elias are forced to deal with such inconsistency. I suppose it is a hazard of the career choice. No weight is even given from them outside of the basic documentation, which they obviously have not been given clear guidance to effectively provide the type of information these cookie maker bureaucrats want. We began this process December 29th and have jumped through hoop after hoop, busted through red tape and hurdles. We have stressed over this and hounded those responsible for submissions. It almost felt as thought they were stalling. All for a denial, it is a tough advocacy loss after a long fight.

Clinic Today

2011-02-22T17:52:00.001-05:00

We just returned from Elias Pulmonary add-on visit. Dr Wood was pleased with what he saw today and said that he felt better having laid eyes on him. He really just wanted to be certain that Elias had not also contracted on of these nasty respiratory infections going around. That is not the case, thankfully. When Dr Woods nurse walked in Elias was walking around the room. She was so happy to see that. I think Elias gave us all a much bigger scare this time around. As always it seems he has bounced back as quick as it came on leaving no evidence. Regardless, we will take it. We discussed what we did here at home and how we should proceed in the future. No real changes despite everyone’s desire to figure this out. He did give us very high praise for making the decision Sunday to increase his ventilator support. That is what we will continue to do going forward. As he said, “Elias drives the bus, we are only passengers. We go where he goes.” We are not really doing much to chase down a reason – it is unfortunately a fact of life. You could probably draw a similarity for this as sugar lows are a part of diabetes. Despite your efforts to control, at times the body takes over and dictates. I suppose the intense difference in intervention makes that a stretch, but you get the idea. Thank you all for the support the past few days and prayers. These are always appreciated. We are pretty exhausted, so we are grateful this round is behind us. Until the next time we can all breathe a little easier – Pun Intended!

Wednesday’s MRI Scan Results

2011-02-21T09:38:00.001-05:00

While we had planned on an update today anyway, it was suppose to be all positive updates. Apparently Elias found out, must have overheard while wearing his BAHA (kidding of course). Last night shortly before midnight Elias decided to stop breathing again. He has been due for a series of episodes as we have been on a pattern of roughly every 4-6 weeks for quite awhile. He made it through the night with his oxygen saturations staying at safe levels, but lower than normal –even for these episodes but he let the ventilator do 98% of his breathing for him. No oxygen had to be used so that is another positive. We have already contacted pulmonary this morning to see if they want to do anything. Waiting on a return phone call. The stress of it, while high & intense is manageable –from experience maybe, but the frustration level increases every time. We just wish we could figure this out so we can prevent them.

Ironically, one of the items we were planning to update was the latest MRI results from Wednesday’s scan. This was a follow-up scan from one Elias! had in October. The primary objective of the scan in October was to try to identify any components to support the central apnea theory – which there was not. However, while they were again looking for that, there was a follow-up for a white mass – or potential tumor that had been found. It indeed showed up again, but on the positive side it has not gotten larger. That was a relief, for now! Neurology stated it is possible it could be an anomaly, but we will again repeat in 6 months to keep our eye on this “spot.” While digging up the link for that update we were reminded that Elias had episodes just days after the last scan too. In our opinion that is purely coincidence and not relevant, just odd.

We are going to leave this update there for now. Obviously things are a little on edge and tense as we just wait for if/when Elias stops breathing again. It will be that way for the next day or so until this series passes. We will keep you all updated if there are any significant changes. Thanks for the thoughts and prayers.

Avoiding the Plague

2011-02-12T14:54:00.001-05:00

It’s been a week since our last update and honestly not too much has been going on. We have been laying low trying to avoid a very bad bug – we refer to as the plague – that is going around the area. It has been so rampant that at least one entire school was closed because so many of the students, teachers, & staff were out sick. One of Elias therapist was telling us that most people that have been stricken with it have been ill for nearly 3 weeks. Something that intense is VERY bad news for Elias! Of course this is the week he finally decides to get a mundane issue – pink eye. The first time every where going to his pediatrician would be valid and just. The timing just sucked with all the sickness there. Thankfully, we avoided a visit and he just called in a prescription for eye drops. The only other point of interest is that Elias received his own BAHA on Thursday.

This one is a little different (improved) from the one he has been trialing. This one is all digital with a processing filter. It is a bronzish – tan color with a navy blue headband. They are great colors for him. There are some photos of the BAHA here. We will get some of Elias wearing it soon. He needs a little time to adjust to this as it is much more sensitive than what he is used to. So we are slowly breaking him into it. That is all we have for now. We should have some items to update early in the week. Thanks for reading.

A Hearing Moment

2011-02-04T10:31:00.001-05:00

Yesterday we had our weekly Aural Rehab Therapy. There has been some excellent progress made, especially noticeable since the settings were altered – something we had questioned for awhile. The therapist had Elias sitting in a high chair and playing with various kids musical instruments. Elias was very engaging and interactive – especially beating on a drum! As Elias plays the therapist would make various sounds - The Ling 6 sounds in addition to what I call a throat trill – a high pitched rolling sound. The Ling 6 sounds are particular sounds that occur at particular speech frequencies or pitches. She would make them randomly looking for auditory response. Over the past 8 months there have been lots of, “was that a response?” Never that definitive ah-ha moment that everyone we have spoken to over the past several years has mentioned.

Katharine was seated next to Elias, on his right while the therapist was sitting off-centered in front of him towards the left. At one point Elias looked over at Mommy. The therapist sounded off a throat trill – Elias’ eyes got bigger and he snapped to look at the therapist. When she stopped he looked slightly confused at first and she started again. He smiled! He looked at Mommy again, this time the therapist sounded a shhh. Again his eyed enlarged and he turned to her. These were very definite auditory responses. In fact the therapist commented, “I can tell by the well of tears in your eyes that you agree this was a response.” It was the moment we had been waiting to see for 2 1/2 years. It was very emotional and exciting – for everyone in the room. So exciting that when we left when the door shut to the entrance we could hear the therapist let out a cheerful shouting “Whoo-hoo, yes!” As she shared the awesome breakthrough with her colleagues. We smiled hearing that and each gave Elias a big kiss!

To keep it in perspective this does not mean that Elias is hearing everything, in fact it is still very little. This along with the booth testing from a few weeks ago provide strong evidence that his hearing loss is almost certainly central and that the pathways are beginning to open. Answers have been there, but fuzzy. Now they are becoming more clear and we know that we are on the right path. It could still take years. The past 8 months everyone has wondered if we were doing the right things – now we all know we are. We just need to remained patient and focused, diligent and optimistic. Thank you to everyone who has supported us through this. Advocacy for his hearing has been one of the more intense and emotional fights we have had to date. It has been challenging and that is probably making the memory of yesterday that much sweeter. There are no words to convey the beauty and pride we felt yesterday. While the road is still long – it looks much brighter today!

A Full Week

2011-01-29T15:20:00.001-05:00

It is the end of another busy week, exhausting week. We had appointments everyday this week (some days multiple), except for Friday. Most of them

were various therapy appointments, with IVIG and some research lab work thrown in the mix. Health-wise Elias is doing well for the most part. We just finished another 3 week course of vancomycin (second course in 6-1/2 weeks) on Monday for C-diff and already we are seeing the beginning symptoms of a flare up emerging. I imagine Monday morning we will be calling GI for the next plan to try and beat out this very chronic issue. There has been some conversation between Elias GI doctor, His BMT doctor and the chief doctor of infectious disease on alternative treatments. Probiotics have been mentioned in the past, but BMT would rather try other options first. We do not fully understand the reason behind the reluctance, but she is a VERY good FA doctor that we trust explicitly. She is not 100% opposed, but would rather not jump right in if there is an alternative, which apparently does exist. So we will place this in their very capable hands and see what comes next.

On Thursday, Katharine and I gave blood for an FA research project that Dr. Auerbach is conducting. She runs the International Fanconi Anemia Registry in New York. Last March we resent Elias’ blood for complementation testing to determine which he has. Both attempts to grow his cell line have failed. This means they can not determine his complementation group. This also helps with identifying the others in the family with carrier risks. Our blood, as carriers, will be used to grow out our cell lines to find where the mutations are. Then along with a skin biopsy from Elias they can attempt to isolate in him to determine his group. There is much more depth to this study and it is very interesting what this has the potential for. Elias unique presentation is always a topic when we speak to those that research or treat FA patients. So she REALLY wanted us to be a part of this group study. All the researchers for FA are truly amazing to be so dedicated. Our community’s few numbers have embraced enough interest from some incredible scientist around the world that are truly doing remarkable studies that are achieving results. Each one closer to a cure.

This week was also our final evaluation with the speech therapist for his assistive technology communication. While the final recommendations are not formally in place, the reality is Elias is not ready for anything technology based at this time. With a five year purchase term between upgrades through insurance it is tricky to find something basic enough for him now, but adequate enough for him at

age 7. That simply doesn’t exist. A “low-tech” approach to total communication is the strategy. This is simply carrying on with what we have been doing all along. A Static board/book with pictures representing items and needs to point to or hand as a means to communicate and express wants or needs. In Elias’ case this is something that is not catching on and no one really can explain why. There are several theories from various providers – some of which we have mentioned in the past. They range from lack of visual attention, sensory issues or processing problems, behavioral issues, and even autism spectrum disorders. Other theories include his avoidance due to all he has been through medically, along with his desire to only focus on movement. The last one brought another thought by a therapist forward this week. Is it possible that Elias’ mobility – particularly with engaging static objects (non-moving) is his way of creating the motion he craves within his environment? In other words the toy truck stay still, but his patterned movement makes it appear to be moving in his mind, thus creating a desire to interact with it.

We took these concerns with us to the evaluation session. She agreed that these can be frustrating obstacles for everyone. Her feelings based on experience is that we just need to continue the strategies and be persistent. She really liked the artist portfolio book that Katharine repurposed for his communication book (yeah Mommy!) and feels it is simply going to take time. The underlying issue right now is everyone is feeling pressure because Elias ages out of Early intervention in 14 weeks. Preschool is set to start in the fall and for the moment he is unable to communicate his needs to anyone but us – We speak “Elias-ese.” Several providers have hinted and danced around this and we remind them it is why we have pushed and advocated so hard on this topic. Now that it is crunch time there is a greater sense of urgency from some of his providers. It is also fair to remind ourselves and them as well that Elias has benefited less than half the intervention he was eligible for, due to so much hospital time – Roughly 15 of the 36 eligible months. Speech has really only been 10-11 months because it was so difficult to get as a priority. That is the main reason I feel the system fails children like Elias – meaning Children with complex medical needs. He was penalized and forfeited valuable intervention because he had such complex medical needs that forced him to be hospitalized half his life. Don’t misinterpret this as us not feeling the providers working with him are not doing a fine job – they are. He has made progress, great progress given the brief time they have had with him. Just imagine the progress if the system did not take away from the time he can not control. Yes we will continue to work with him and seek outside therapy as insurance will allow because we certainly can’t afford out of pocket, but the fact still remains he would greatly benefit from the time lost, if the EI system allowed it. The schools provide a much different focus – that which is based on his learning needs and is less intense. Bottom line is, just because he is “not getting the concept” of this total communication with the various means we are employing, doesn’t mean he is not growing into it. He is simply not demonstrating it – be it because he is unwilling or unable. With time it will come, but likely will fall outside the crucial window we always speak of developmentally for children with hearing loss issues. Cognitively he should be able to – everyone agrees on that point. He has just not had enough time early enough for a break through. This is the challenge in children that are complex like Elias.

Observing His Play

2011-01-25T15:37:00.001-05:00

All is well here. We have been bogged down by snow and now the bombardment of rescheduled appointments. We are working on another MRI for Neurology. We had one in September and the doctor wants a follow-up. The exceptional nurse coordinators at the FA clinic are working their magic again with Our ENT – focused on his hearing – in coordinating to do the FMRI we mentioned last October with this upcoming MRI. Especially with the breakthrough we seem to be having with his hearing, it will be very interesting to see just what is happening inside that little boys brain.

Elias really opened our eyes and unlocked some really interesting observations this weekend. It has been amazing how he is progressing with things. In case you missed it, take a moment to read about his Saturday morning playtime. After a lot of observing and discussing we began to wonder if some of the things his therapist see as behavior related or sensory problems might be conflict. That is between his chronological age and his developmental age. They are always commenting, “how age appropriate” or “he is being a typical 2 year old.” The fact that he is able to display such cognitive displays, but is limited by his physical abilities might be creating conflict for him and for those evaluating him. While they attempt to compensate for this you can not help but wonder, as with all things Elias! there is a different component. He has been though so much already in his life, with much more to go. Many tell us they are amazed at how well he is doing particularly given the extra challenges. One other interesting observation to note. Since the BAHA settings have been turned up, we were told not to expect to see a difference. We haven’t really – still no response – when he is wearing it. Interestingly, when it first comes off, there are at times…something. Not all the time, but to get inside his head, it is almost like he responds, “hey, where did it go?” It of course being sound, even if he isn’t interpreting it – which we know he isn’t – the fact that he gives this response, likely is a huge positive.

Winter Storms, IFSPs, & developmental focus

2011-01-20T15:46:00.001-05:00

We are in the middle of another Winter Storm. Depending on the weather forecast you pay attention to it is all over the place in terms of severity. It looks as though we will get 4-8inches. We finally got rid of the Christmas snow just yesterday. We saw the green grass for the first time in a long time, but now it is covered in white again. Elias spent sometime this morning watching the snow. He was standing at the backdoor in our kitchen just looking out curiously. As he made his laps around the main floor, he would stop and look out with each pass. It was very cute and interesting to watch. Speaking of cute & Interesting, have you seen the video of Elias walking backwards yet?

We finally were able to hold Elias IFSP meeting to set goals and strategies for the final 15 weeks before he ages out of the early intervention program. The meeting was suppose to have been 3 weeks ago, but illness and inflexibility from the providers left us in quite a lurch. Even the final make-up meeting was only going to have the coordinator and one therapist there. That one therapist at the last minute called to inform the coordinator something had come up and she was unable to come. I am going to stop there to prevent a raging rant from occurring. Just in case you can’t pick up the tone in the writing, Katharine and I are less than thrill with what has transpired the past few weeks. Our plan is set, but we have yet to confer with the therapist on if they are on board. One thing we are adding this period is a Developmental Interventionist. This type of therapy is a broad base cover all points of development. Unfortunately we are only going to be able to have four, maybe five sessions between now and may 1st. We did this by a request from Elias developmental pediatrician. She also is calling for an intensive level evaluation for program development. We added this into the plan to be processed for approval.

So over the next 15 weeks Elias is going to be receiving the following therapies – Physical, Occupational, Speech, developmental intervention, and Assistive Technology. We will also be continuing the Aural Rehab Therapy and the consultative Occupational & Speech Therapy for his total communication recommendations. We also have to have an Individualized Education Plan (IEP) developed for him by May 1, his third birthday. The next few months are really going to need to be focused for Elias. There is many decisions that we will need to make, some of which will be manipulated by Elias’ performance and decisions his providers (doctors, therapist, etc) will need to provide us with along with the information to help us best decide these items. We are fairly certain that Elias is not going to be allowed to go to school because of his tenuous airway. Pulmonary has made that abundantly clear and with good reason. In this scenario, school will come to him in various ways. Wish us luck as we embark on this phase of our journey. Lots of thoughts and prayers for clear vision to help him have the best possible future.

A Must Read Update!

2011-01-14T23:55:00.000-05:00

This is certainly one post you do not want to miss! We have some information to share about Elias! Yesterday we had a marathon day of appointments at Children’s. One of those with Audiology. Our Aural Rehab Therapist helped us to get an appointment to re-evaluate Elias’ BAHA settings and to conduct a standard hearing test to see if there is any change in response.
The original audiologist that fitted Elias with the BAHA initial is no longer at Children’s, she moved – can we get a big AMEN! You may remember our issues and push-back we received from her when we questioned his lack of response. She was even rude to our speech therapist, telling her that she needed to know her role and stay within it. We have been trying to meet with the new audiologist that took over the BAHA segment. The past few months have not allowed for that until yesterday. We have added him to the team and he offered some interesting perspective. He really took the time to explain things as well as encouraged our questions. In fact he was very patient and prodding for more once we were done. We appreciated that very much. We started with a standard booth test. Here is a very controlled environment for ambient noise, frequency, volume etc – so nothing like the world environment. They placed a bone conduction device that was attached to some wires – allowing more control for testing and response purposes. Elias’ BAHA was not used during this testing.
The results were interesting and positive. Elias was indeed showing some behavioral responses – mostly negative - to certain pitches and frequency. In the previous two testing over the last year there has been nothing. The negative type response – mostly facial expressions – are typical and expected due to the intensity of the frequencies they used as the looked for his threshold. In short, this is positive. For the first time in his life, Elias was exhibiting a response to a form of hearing stimulus.
Keep in mind this was a very controlled environment and that he was not using the BAHA so this does not mean he is “hearing and interpreting.” What it does tell them is that the course of action we are doing – intensive therapies and follow-ups are benefiting Elias! We are not able to really notice it outside the controlled environment, but it is happening to some degree. When the settings were check on the BAHA, low and behold, as we asked about many times it indeed was not set properly. He adjusted it, but cautioned us that we would still not likely notice a difference.
So what does this all really mean? Well first off – as mentioned – this is a significant and positive first step! What we need to be cautious of, is the fact that this does not mean Elias is hearing yet. He is responding appropriately through behavior to specific thresholds of sound and frequency. The potential still exists for this process to take years to develop into cognitive hearing of any level. This first step reassures everyone engaged with his hearing that we are on the proper treatment course. We just need patience, perseverance and persistence. We are moving forward with the process towards purchasing Elias’ own BAHA –roughly costing $4,000 – and returning the test one we have been using. It is beautiful knowing we are one baby step closer toward the hope that Elias will one day hear us tell him how much we love him. We thank God for the blessing he supplied us with this little sign of hope.
Thank you all for your continued thoughts and prayers. We continue to draw much needed strength from them. Please feel free to comment with your thoughts below.

Important FYI

2011-01-14T11:37:00.002-05:00

We have some information to share about Elias! Nothing bad, but we know it is something everyone is going to want to hear. We will try to update the blag today if at all possible, but it may have to wait until tomorrow. There is a lot to be done around here so it is dependant on our ability to accomplish that to allow time for the update. Just check back with us. Thank you!

Sent via BlackBerry
From the Fast Lane
http://eliasquickbits.posterous.com/important-fyi

Babble – Music to the ears

2011-01-12T11:20:00.001-05:00

Elias has been doing well overall. His days this week have been filled with walking walking and more walking. We hope everyone had a chance to view the video from this past Saturday. That was a VERY good day for him. Probably the best he has felt in quite some time. He is enjoying going to the backdoor in the kitchen and looking out into the backyard. He figured this out a few days ago. Yesterday, while it was snowing he was just standing there watching the snowflakes fall. You could tell he was intrigued, but not sure what to make of it all.

We have also noticed an increase in his babbling and the variations of sounds Elias is producing. A positive sign perhaps? It is very close to being jargon, which is the next progressive step in language. We have identified sounds of “B”, “M”, “D”, & possibly L, as well as two forms of “A” sounds ( like in at and ah). The fact that his babble alone is increasing is positive. Children who are actually deaf tend to babble, but then go quiet. We are continuing our evaluation process with the assistive-technology center at Children’s. After our last consultation it seems like we are going to be staying with a low-tech system. Katharine is building a communication book that has Velcro attached board maker pictures & Digital photos of common items. She is using an art portfolio that folds into a table top easel so he can flip pages, find what he needs and either points to it or pulls it off and hands to us. As he learns the signs that will be implemented as well. To be making some positive headway in this developmental area is refreshing. It has been full of frustration and finally some glimpses of light are appearing. As always we are cautiously optimistic. Being realistic has kept us from being overwhelmed with set backs in the past, so the same is applied here.

We also met with his developmental pediatrician last week. As she put it, “we are walking out of this visit with more questions than we entered with.” She is very pleased with the progress Elias has made since she saw him last in April, but she is more focused at the moment on the things he isn’t doing and trying to figure out why. She is requesting an Intensive Level Evaluation through Elias early intervention program. Her recommendation for this is defined for program development – which is fancy speak for what services & focuses he needs. She is actually a part of the team that does these evaluations so she would get to witness first hand versus reading a report. Yet another example of seeking out through advocating the best doctors we can get for Elias! may 1st ends his eligibility for these services, so there is a sense of urgency. Her concern at this point is that the schools are not going to have the resources to adapt for Elias. He is slated to begin pre-school this fall – hard to believe I know. She knows it will be a challenge for them and potentially a failure. There is also the fear of him being labeled to open doors of opportunity for more assistance in school, but could be harmful down the road. We are definitely at a definitive crossroads where decision will need to be made. more information is needed to at this point to clearly define Elias, his needs, and more importantly the reasons why certain skills are slow to emerge or come across counteractive. We will be writing more on this topic soon. We are still researching, learning and trying to piece all this together. It comes across more negative than it is, but it is vital to his success as a student so it is shifting to a very high priority due to timing. Communication is still the most hindering issue.

Thanks for reading. Let us know what you are thinking! Leave your comments below.

Brief Update

2011-01-07T13:15:00.001-05:00

The episodes are done –for this round. All total over 2 days there were about 12 episodes. Nine on the final day. The past day and a half Elias has been in a very happy mood and very active. So it certainly didn’t have any long lasting effects. We could do without the scares, but happy that he is doing very well at the moment. Thank you all for the prayers. We will be updating soon with some information on Elias development.

Elias’ New Years Resolution – To Breathe

2011-01-04T11:46:00.001-05:00

Elias stopped breathing again today – 3 times and has already demonstrated he plans to carry on with these antics this morning. We have already had to bag him back once. Overnight we increased the rate on his vent to 18bpm because he was unable to hold his O2 Sats above 90. Thankfully, no oxygen was needed and he slept through the night without an incident. He did however, let the ventilator do most of the breathing for him.

We have noticed a new behavior with these episodes so far – he is sticking his hand in his mouth like he is trying to gag himself. Makes us feel more and more like these obstructive in nature and not central as everyone is theorizing. We are going to see if he continues this with future episodes – albeit nice if he never had another, we are realistic enough not to allow that naive optimism get the better of us. Oddly enough, the hand gagging is a behavior we have seen in conjunction with his mysterious feeding issue. Another of Elias’ unresolved & unexplainable phenomenon. This opens a Pandora’s box to the possibility of considering a connection between the two in some fashion. Our inclination to consider this derives from a common theory doctors have offered in regards to each of these events as separate issues – Reflux!

And as if that wasn't enough to be concerned with, Elias has had another recurrence of the chronic C-diff – beginning just 2 days after the last course of medication ended. There is also yeasty type of rash present for which we just completed a treatment course a week ago. There is a discussion amongst his team about this. All of the antibiotics Elias is constantly given – for treatment & prophylaxis - can potentially exacerbate both of these issues. Finding the balance is going to be the crucial key.

We would appreciate your continued thoughts and prayers, especially in light of the episodes. If he continues there is a chance they will admit him – not the way we want to have to start 2011 in light of last years conquest over hospitalization. We will keep you posted with any new developments. Take a moment to notice the bar at the bottom where you will see a scrolling set of titles – if you haven’t seen this yet, this is where brief updates on things like this & other general FYI’s will post. This is particularly handy when we can’t blog an update as we can post these quickly from our mobile phones. Technology is great and helps keep our family & friends connected and in the know!

2010: An Elias! Odyssey

2010-12-31T23:20:00.004-05:00

By far 2010 was the best year overall for Elias! Elias spent the majority of this year at home rather than a hospital for the first year ever! He was actually only hospitalized 4 times this year, two of which were for surgeries. We crossed the threshold of positive days at home versus a hospital for the first time! In 2008 Elias spent more than 200 days in the hospital, 2009 about 170, this year – less than 50! We have also seen a great deal of development from him quickly. On January 19, 2010 he sat up for the very first time! Yesterday, as you can see from the photo, he was walking the halls of the hospital.

While we had a mini scare with his counts, Elias remains stable with his bone marrow. His airway is decidedly, “Less boring” as his ENT and Pulmonologist put it. There is not really any improvement, but the fact that it hasn’t become worse along with Elias’ ability to defy gravity, if you will and thrive when he should be struggling his airway team considers it a victory. We are still struggling with weight gain and growth, typical in FA, but even the endocrine team is scratching their heads and citing he is small even for FA standards. Elias weighs a whopping 18 lbs soaking wet and is 29 inches tall. The photos are truly deceiving. The big disappointment for the year is a toss up. The colostomy reversal failure or Elias hearing! It is
difficult to say which one has caused us more anguish. We recall in January when the first ABR was done, crying tears of joy in the surgical family waiting room when we were told Elias would have normal level hearing with a bone conduction hearing aid. By April we were fighting to get anyone to acknowledge that he wasn’t responding as he was suppose to. We were told Elias just wasn’t cognitively developed enough. In June a repeated ABR transposed very similar results leading us to a rare and barely understood central hearing loss. After a half year of intensive aural rehab no one is convinced it is working and we are told it could take up to five years. In between we have been trying to create a way for Elias to communicate and comprehend. A very difficult challenge with a very large team of therapist and doctors assisting. Elias is an enigma and proves over and over there is no cookie cutter for him. The world doesn’t like that, the bureaucracy can’t comprehend that, but we are determined and inspired by his desire.
The blessings of this year have been welcomed. We are looking forward to more of those. We are reminded and touched by the angels FA has sent heaven this year. Even when times are rough and feelings are low, our little family finds a way to smile and laugh. That is what we have learned this year. Thank you all for your continued support, thoughts and prayers. We will need them for some of Elias’ challenges already on the horizon for 2011. We hope that every one has a happy and prosperous new year!

Much Improved

2010-12-22T17:00:00.001-05:00

Elias has improved since our last update. Thank you all for your thoughts and concerns. His pulmonologist wasn’t certain if what we had was viral or not. We had already started Ciprodex over the weekend which he felt was the best thing to continue, unless it was viral. If there was not any improvement by Tuesday morning then we would need to do something different. Fortunately, there was improvement and he has continued to improve today.

Elias had a wonderful physical therapy session today. He really was in a fantastic mood. His walking today was much improved, especially his stamina. We are so proud of his determination and hard work towards getting back to pre-surgery ability. Most of it has been on his own, without us prompting. Such a fighter and unrelenting spirit he has. That is a huge blessing. During therapy today we attempted walking with shoes again, which he had just mastered a week before his surgery. At first he was very tentative. He did not want to leave the furniture and simply cruised along that. Then he got determined to try and cautiously walked to the nearest chair. After about 5 minutes of this cautiousness he set out and began doing laps around the downstairs. His PT was very pleased to see all this progress from her visit 2 weeks ago.

Yesterday, we had an unfortunate incident involving Elias nurse. She had fallen asleep in a chair. I was upstairs working and heard what appeared to be snoring, loud snoring. I walked to the top of the stairwell and confirmed that was exactly what I was hearing. I came quietly downstairs and circled around through the kitchen to enter the living room. She had stirred and was readjusting as I walked in. I told her she had been snoring, which meant she had fallen asleep thus compromising Elias safety. I asked her to leave, get some sleep and that she had put us in a very bad place. This unfortunately was not the first time it happened. A few weeks ago during PT the same thing happened. Quite embarrassing as the PT noticed it about the time I did and gave me look. While I addressed it then, I suppose I should have been more stern about it. Happening a second time, in such close proximity to the previous incident, left us with no other choice but to dismiss her from the case. When we sacrifice and compromise on any of our values and standards for Elias care and more importantly his safety, we become, at that moment, ineffective advocates for him. That is why the decision had to be what it was. The timing of this could not be any worse. We can only hope a competent & reliable replacement is found soon. I have been very aggressive with my job search with little to show for my efforts. That is the demoralizing part. This puts a huge cog in that wheel and worry that opportunities will now fly in at a time when nothing can be done because of this. Murphy truly needs to stay away here. As always, we cling to faith, that everything happens for a reason, and that a better blessing will come of these trials. Elias is living proof of huge blessings that come with difficult times.

We certainly hope everyone has a happy holiday, which ever it is that you celebrate and to our family we hope you all have a very Merry Christmas!

Airway Concerns

2010-12-19T08:12:00.001-05:00

It has been a rough night and morning so far. Around 3 am this morning Elias began to cough persistently and blow bubbles out of his nose (beautiful image eh?). He was in need of frequent suction and almost unable to stop coughing. His O2 Sats have been low and his heart rate high. He obviously has something going on in his airway. We just are not sure if it is irritation or if he might be getting sick...

We have given him all kinds of treatment and medicines to attempt and relieve his discomfort. We seem to be able to manage it enough for him to sleep for about 45 minutes to an hour each time. This always happens on a weekend! We are going to have to manage until tomorrow when we can call the pulmonary clinic for some direction. The ER will be useless, as we have learned in the past and candidly told so by his Pulmonologist. He had a similar scenario going while he was in the hospital last month and after a day or so he improved without any real intervention. At least not proactively. He was on several different antibiotics and pain control meds at the time. We are just praying that this will pass quickly as that did.

Walking, Snow, & Counts

2010-12-18T16:26:00.002-05:00

Elias had a decent week. He is really getting his walking feet back. That has been all he has wanted to do though. He has ignored all his toys and just walked and walked and walked some more. He is absolutely determined to get it back. We posted a video from last Sunday night while he showed off for Grandma O.

We had our first big snowstorm of the season this week. It really wasn’t too bad and it gave Elias a chance to try playing with snow in a bowl again. At first he would have nothing to do with it, but it didn’t take long before he kept coming back to and sticking his hand in it. He never tried to put any in his mouth. He is pretty good about that as a general rule though. There are still some traces of snow lingering as the temperatures have been in the single digits most of the week. Brrrrr.

Finally, Elias had IVIG this week. This was also another opportunity to check his counts which have continued to rise. Thank God! We are close to his pre-surgical numbers so the doctors were very pleased. We are still waiting for his IGG level to come back from the lab. It will likely be Monday or Tuesday before that is ready. This will be the determining factor on how often we will need to go back for IVIG. If all is well we will continue with the monthly infusion rather than bi-weekly. Thanks to everyone for checking in on Elias!

Getting Back On Track

2010-12-11T13:28:00.001-05:00

Things here have been busy. There have been a lot of follow-up and make up appointments to cram in before Christmas. The platelet antibody test came back positive, which is bad. It does provide an explanation for the dramatic drop. The good news is the counts are trending up despite the antibodies and IVIG is the first treatment, which Elias is already getting. The FA team is just going to continue to monitor his counts and increase his IVIG if needed.

Elias has improved a great deal, mostly in the last few days. He is beginning to get his energy back and becoming more active. The smiles, fishy kisses, and raspberries are back stronger than ever. He is also beginning to get back to walking. Wednesday night he was so determined and it was like watching him take his first steps all over again. He still is not walking as easily as he was before surgery, but her is able to walk across the room and spin around as well. When he stops it is more from fatigue than not being able to keep his balance and footing. That frustrates him a little, but he rests and then pulls himself up on the nearest stable object and goes again. We are glad we have not had to prompt him to do this and he is working this out on his own and at his pace. It shows his determination and will to conquer.

We have another busy week ahead with several appointments in the mix. It has been exhausting to be quite honest. We are still trying to recover just from being in the hospital so long and now this crazy intense schedule we have going on. Last week Elias also tested positive yet again for his chronic C-diff. Back on the vancomycin he goes. They are going to try a taper off it this time to see if that helps keep it at bay longer. We also started Diflucan to see if we can control and eliminate the feeding issues we have been battling where he sweats and retches with occasional vomiting. His GI doctor has a theory that with all the varied antibiotics Elias has had to be on almost constantly along with the colonization of different things in his body, that might be the cause. The Diflucan will treat certain types of those most commonly known to create issues like this. If after some time we are not seeing improvement they will likely scope Elias’ esophagus and stomach. Let us hope the Diflucan is the answer. We also had a day with about five apnea spells. Fortunately, they were relatively easy to manage and bag him back without having to go on oxygen. We have learned to just accept these as a stress in our life that isn’t going away anytime soon. All in all we are just staying busy, trying to get rest when we can, and generally trying to keep our head above water. We hope everyone’s holiday season is going well.

And Slow It Goes

2010-12-01T23:06:00.001-05:00

Elias continues to improve….slowly. He has started to sit up on his own, which is a positive. He has also stood up a few times only to quickly realize that wasn’t such a great idea. He attempted to walk for the first time yesterday and he did not do so well. The term “drunken sailor” comes to mind. He at least laughed instead of crying which he has done some out of frustration. He will get there again, he just needs time. The FA doctors want another set of blood counts at the end of this week. We are praying for a continued upward trend. We have high hopes just based on Elias energy increase over the past few days.

Today for some reason it was really noticeable the weight he lost during all this. The lack of “pudge” on his thighs and arms was very obvious and stood out today for some reason. He is taking it well, being weak that is, but you can sense he is missing doing the things he remembers doing before this. We are hoping that it is merely weakness and fatigue rather than developmental set backs. Still, we know he will re-learn and conquer those challenges, mainly the walking. He had become so well adjusted to walking, even in his little shoes. We can not wait for that again. Despite the slow go, we a grateful for him and his amazing attitude. It has been a very rough and emotional few weeks. The likes we have not experienced in awhile. We did not miss it, and while we know there are more of these moments ahead of us, we will simply cherish the thriving ones more fervently.

Raspberries & Smiles Are Back

2010-11-27T08:42:00.001-05:00

Yesterday yielded some positive points for Elias! He has started doing his raspberries and flashing smiles again. Those were welcomed sights and sounds. His color is beginning to return and the area around his eyes are beginning to look closer to normal. Late yesterday evening we even caught Elias “standing” on his knees a few times. You could tell he felt woozy in the head so all those attempts were short lived. At least he is trying. Hopefully in a few more days he will be sitting and standing up again. We were able to for-go any pain medicine as well. That was a little surprising to us considering his incision site is open. We realized we neglected to mention that part in previous updates. They purposely left his incision open to help it heal faster and reduce the infection risk. They used the same incision line for both the surgeries. So we are packing and covering it with a wet to dry gauze. This is certainly slowing down his mobility progress a bit. We expect there to be more signs of normal life returning today as he gets stronger each day. We increased his continuous G-Tube feeding rate slightly yesterday as we begin working him back towards getting him time off the feeding pump and his old regiment.

One final thought and prayer request to share. We mentioned Joshua Lytle in our previous update. Sadly he passed away at 6:15 pm Thursday. As his mother stated, “FA may have claimed his body but not his spirit. Heaven has gained a new superhero angel who glows green and shoots fireballs.” Please pray for peace and comfort to surround this family. We Thank You!

Thanksgiving Blessings

2010-11-25T15:29:00.001-05:00

Last night we were able to bring Elias home from the hospital. We were quite shocked to say the least, but were not going to argue either. We believe they realized there wasn’t much else they were going to be able to do there that couldn’t be done by us at home. At this point Elias just needs time to recover from the sheer amount of stress these two surgeries have inflicted. He is still in quite a bit of pain and this in tandem with his platelet and hemoglobin losses really has him very tired and weak. The photos are from last night after we got him settled here at home. He looks weak and you can see the weight he has lost over the past three weeks. Weight he could not afford to lose. He lost nearly a pound and a half! He has shown a few signs of life and improvement. He certainly recognizes he is at home and we hope that translates into quicker recovery. We did get positive news that his platelets had rebounded some, up to 102 from 88! That is a relief to be heading in the right direction after such concern being expressed by his bone marrow doctors. He is still on pain medicine and we need to work on getting him back to his typical feeding schedule. Right now we are doing slow continuous feeds around the clock for a few days before we attempt to modify that. All in all we are just happy to be under one roof together. It didn’t really matter where, but it is much sweeter being here at home. On this Thanksgiving Day we are thankful for many blessings. We hope that you and yours are able to appreciate your blessings. We ask that you remember other members of our FA Family. There are many who are in the hospital this day for Transplant, cancer treatment, as well as, struggles with issues related to Fanconi Anemia. Especially keep the Lytles in your prayers as their little boy Joshua is fighting for his life today. The doctors are struggling to even keep him comfortable. Let there be a miracle, please! There are also a few families that have recently loss their children to this terrible disease. We are thinking of those families as well. Thank you for all of the continued thoughts and prayers. We hope that each of you have a wonderful Thanksgiving.

Some Positive, Some Concern

2010-11-23T11:30:00.000-05:00

Overnight and this morning it seemed as though Elias has improved on the pain, but just a little. He did play with a few toys this morning for a brief time. That is our sign of the small improvement. They began pedialyte today with hopes of getting to formula tonight. Another positive!

This morning while getting pain meds, his O2 sats have dropped. He did not do this yesterday, but twice so far today. Elias has needed oxygen, about 28% (21% is room air) since Friday. We kept him on the vent all day yesterday just to give him some extra help to relax more. We are not certain yet why he is doing this, but the nurse was concerned enough to call the doctors before we even asked. One other concern on the radar is the platelet issue. This mornings CBC shows that Elias drop 2,000 more to 88, which is down from 200 a week ago. His hemoglobin is up so the transfusion helped, but his blood pressure was a little on the low side. We are hoping to wean the pain meds today some. We also have just noticed some blood in his colostomy bag, could this be the source of our problem? Dr Mehta said the numbers suggested that he is still bleeding somewhere. Surgery says he isn't, but they have not seen this blood yet. Ugh! This is truly frustrating. We will keep you posted.
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Over the Weekend

2010-11-22T15:32:00.001-05:00

We know everyone has been anxious to know how Elias has been doing. He is improving, but very slowly. He was moved out of ICU yesterday, so that is a good sign. He is still in a great deal of pain and he has needed pain meds and valium every 2 hours. He will not cuddle with his teddy or blankets and does not want to be touched in any fashion, even by us. He pushes us away, literally. It is very sad to see. Thankfully the meds are keeping him asleep most of the time so that he can rest somewhat comfortably and heal. Elias hemoglobin has also been dropping since his emergency surgery on Friday night. It was 6.9 this morning, so a blood transfusion was ordered. The cultures from Friday all came back negative, which is positive. There really isn’t an explanation for the spiking and falling fevers. The surgeons say that nothing was infected inside so those types of fevers are not something they would expect. He has not spiked since yesterday morning when he hit 102 and has gone down slowly since. We have also needed to keep him on oxygen since the surgery, not too much thankfully, only 28% to help his tired healing body. He also has taken a huge hit to his platelet count. Before surgery it was 200, today it is 90. Elias FA doctor came in to see him and she is concerned by that drop in conjunction with his hemoglobin drop. It is something she is going to be watching very closely. They do not appear to want to take action unless he continues to drop down to 50. We imagine a platelet transfusion might be in order at that point.

As for when the heck we might be able to get him out of here, we have not been able to get anyone to even discuss the next step, which after stabilizing should be feeding. No idea on when that will start or how long it will take once we begin. This has certainly been a much rougher road than we could have ever expected. We are holding up as well as can be expected. There is obviously some disappointment, but as we said before the important thing is that Elias is safe. We appreciate everyone’s thoughts, prayers and support.

Emergency Surgery

2010-11-20T03:29:00.001-05:00

Elias is now in ICU recovering from his emergency surgery. To follow up on the previous update, he was taken for the CT scan at 9 pm. Once he was done he was rushed into the operating room for emergency surgery on his bowels. The CT scan confirmed the mass that has been around the incision and stomach was indeed a hernia of the bowels. At some point they slipped up in between the muscle and was protruding and pushing up on his skin. The surgeons came and spoke with us while they prepped the operating room. They had no idea what they were going to find until they cut him open. They told us they had no idea how long it would take and what action they ultimately decide on again until the saw for themselves the inside. The surgery took several hours and it was almost 1 am before they came out to tell us they were completed. Sadly the colostomy had to be put back in place. The anastomosis, which is the area where the two portions of colon were reconnected from the colostomy is simply too narrow to allow anything, including gas to flow normally. The safest option was to put the colostomy back. The bowel had indeed receded and pushed its way up and fortunately it was caught before any perforation or damage occurred. The positive side to this is the surgeon noticed a section further down the bowel that is wider that he can in the future try again to reverse the colostomy. This can be evaluated again as an option after 3-6 months of healing. Honestly, after all that has happened the past 2 weeks now is not even the time to think about that potential, though it was nice to hear the positive feedback.

It has been a very long, emotionally draining and frightening day. This was suppose to be something to improve his quality of life and we suppose it still can be, but for him to have gone through all this to ultimately walk back out with a colostomy in place covers a wide spectrum of feelings and concerns. We are still waiting for the cultures as well, but Elias is on a much broader set of antibiotics until the source of issue is narrowed. It is possible that all this bowel issue caused the high fevers. That would be great if it was. It is still unclear how long Elias will remain in the PICU. We will have a better idea in the morning. It is also unclear how much longer we will be in the hospital in general. At least 2-3 days for post-op antibiotics and the pending culture results. Despite all the frightening moments and serious concern coupled by the fact we went backwards by redoing the colostomy, the bottom line is Elias is safer and on a path to comfort. That is the most important piece that we carry away from this. It was more the way he has suffered the past two weeks that gives us what we know is unfounded guilt, yet we have it anyway. Thank you all so very much for your thoughts and prayers today. It has provided us with much needed strength and focus.

Unexpected Events

2010-11-19T19:32:00.001-05:00

First off we would like to ask that everyone please add Joshua Lytle & his family to your prayers. He is 4 years old with FA. He has had 3 bone marrow transplants along with many complications and struggles. He is currently in the PICU and has been on an oscillator for about a week. His lungs have taken quite a toll & a miracle is needed right now. We have had the honor of meeting this family & are very heart broken over this development. There are many other families as well with struggles and challenges too and we ask that you please remember them as you pray for Elias!

Thinks with Elias today have been quite worrisome. He has developed a very high fever that is still rising. His heart rate has been between 165-200 bpm and in the past hour hit Oxygen Saturations have dropped to the upper 80's & low 90's prompting us to put him on O2 assistance. We fear he may have an infection in his Central Line. There have been blood, urine, stool, & trach cultures sent. Without going into details BMT has been brought on to help with this. We are thankful and relieved for that.

After the BMT team was up the surgeons came in to look at Elias stomach. They started pedialyte again today at 5mL per hour. It has been going since roughly 10 am. The mass on his stomach which we have been told for the past 2 weeks is just fluid, it is a typical abnormatily and would just absorb into the body has expanded expedintally the past 24 hours. His stomach still is distended as well, but it is difficult to tell how bad with the mass. Apparently this mass we have been concerned with that we have been told is alright all this time requires a CT scan. It appears we will have this done tonight, which means it must be a serious need since it is Friday at 7pm. They are now telling us this is necessary to determine if it is indeed fluid or if it is possibly a hernia. If it is fluid it would be cultured for infection and drained either by a tube or just opening the wound to drain and then packing it. If it is a hernia, well then another surgery will be required. The interesting challenge here is first a periphrial IV is needed -Elias access sucks- secondly, he needs to have 180 mL of contrast pushed into his stomach over an hour. We can barely do 120 in an hour without him throwing up. The boy hasn't had anything in his stomach for a few weeks now. Will he tolerate this or vomit. We are starting that now so I guess we will see!

This day has been a whirlwind and completely unexpected. It of course comes on the damn weekend so answers will be scarce until Monday more than likely. We will post an update when there is anything to report. Thank you all so much for all the prayers.

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Waiting…What will tomorrow bring?

2010-11-18T14:39:00.001-05:00

Not too much to bring everyone up to speed on. The past two days have been spent sitting here waiting for the distention in Elias stomach to subside. Today his stomach looks and feels softer, a positive sign. An x-ray was taken not too long ago and after they evaluate it a decision will be made if we should start the pedialyte again. It could be this afternoon or evening, or they may wait until morning. He tolerated the pedialyte just fine last attempt, so we are expecting the same this go around. It will be when the formula is introduced that we will become nervous. We are praying that this time the transition will be clear and we can begin to see light at the end of the tunnel for this admission. Thank you for all the continued support and prayers.

Set Back Overnight

2010-11-16T09:12:00.001-05:00

Yesterday the doctors decided things looked okay to begin pedialyte through his G-tube at a slow rate of 10mL per hour. Everything went well from 10a to about 6p. The decision was made to switch to formula still at 10mL with an increase by 5mLs every 4 hours. Shortly after they increased the rate at 10p Elias was visibly uncomfortable and his stomach became very distended. A clear sign that things are not working, so they were stopped. He also had not had any stool in his diapers for several hours and as of this morning there still has not been any.

This morning we have been waiting for answers on what might be the issue and what the next step will be. Again the doctor apparently came in and out very early without talking to us, despite a very large note hanging on the end of Elias crib asking them to wake us if we are asleep. A surgical resident just informed us the plan in to take another x-ray and begin TPN. She foolishly began the conversation with, “I suppose you already spoke with the fellow…” Mom lost it and told her actually we have not and demanded both the fellow and the attending come in ASAP to explain to us why we continue to have this cloak and dagger, sneaking around mentality and then taking hours, if at all to get answers to questions they could easily answer while here. It is not like his nurse even knows either, they are not always passing info on to them. At times we have informed his nurse of the plan.

This set back is just very heart-breaking. We have been in much more serious positions with him, but we have never seen him down and out of commission for this long. Even comprehending the reasons behind this, which all make sense it is still rough to see him just lay there uncomfortably. It definitely adds to the stress level exponentially. At least he had a few hours where he felt good yesterday, that was a welcomed time with lots of smiles and fishy kisses. Last night and this morning, back to reality. This admission is now very uncertain in length and no one is going to even attempt to guess how long we will be in for with this set back. Thanks for the thoughts and prayers we truly appreciate them and everyone’s support helps to lift our spirits through this difficult time.

Morale Buster

2010-11-14T13:08:00.001-05:00

Well the train derailed today. Dr Levitt was pretty hopeful the pedialyte could start yesterday. Typically an X-ray is done before the decision is made but he was confident that wasn't necessary. Believing that was our first mistake. At 12:30 yesterday afternoon the nurse paged the doctor to find out when we would begin the pedialyte. She was told they wouldn't be, but no one could give us a clear reason why. We began to wonder if there was another communication flow issue because Dr Levitt apparently had no knowledge of stool being passed on Friday. Oops! Then Elias began to run a fever and have high blood pressures. This along with his sleeping so much was concerning. The surgical resident, which is separate from Colorectal, but included as part of the communication hierarchy (got it?) was paged at around 430p. As our facebook friends know they never came...still. The Colorectal fellow (a different one today) came in and he has helped get everyone back in the same page of the same book. He has been very helpful and given fantastic explanations for almost everything. Despite the confident no x-ray we were told on Fri the decision to do one today made sense, I just wanted them to realize they are mixing signals. Unfortunately, it showed that there is not gas in the lower colon yet, which is odd to them even because he is passing stool and yes audibly gas! This tells them that the reconnection area is still very tight and being small not a good idea to start anything in his stomach just yet. From here we are day to day with x-ray to determine if improvement is made. If tomorrow they can not begin clear fluid then TPN & lipids will begin according to them today. So as of now this has become another open ended hospital stay.

On the positive side from Elias, he has successfully sat up again a few times today and put his arms up for us to stand him up. He can do this for just a few minutes, but we are happy his spunk to do has returned. Even if that is all he does today it is so much better than what he has been doing. This did us both A LOT of good to see! That kid is something else, let me tell you. Thanks for the continued prayers and please remember our other FAmilies in your prayers. There are some going through some very difficult challenges and health issues as well! They are all fighters like our Elias! As one parent in our FAmily suggested last week FA stands for FIGHT ALWAYS!
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And So Goes the Weekend

2010-11-13T13:24:00.001-05:00

We had foolishly become optimistic that we would make progress this weekend. We were hoping for clear fluids (ie pedialyte) to begin today per the attending Doctor, but somewhere along the line the decision was made not to do so and we are not quite sure why. The resident told the nurse that based on the fellow's assessment they will re-evaluate day to day. For some reason they do not round like other services, at least not with us. Maybe because we have to be on another unit because of Elias ventilator dependency? We saw the attending surgeon, Dr Levitt on Tuesday afternoon, but not again until Friday afternoon. The fellow has been coming in at 6am so there is not much discussion. We do not see anyone else unless we specifically demand it, which is absurd. Especially since the hospital prides itself on Family Centered Care.

This is day 7 of the admission and it has been 147 hours ( as of the time of this post) since Elias has had anything to eat. Our best guess on the reason to withhold the liquids still is there remains some distension in his stomach, but that is a guess. I won't tell you my other considered reason. If you want to know feel free to email me and I'll be happy to share. What little calories Elias is getting through the IV fluid is going towards the healing process. It is insane how much the child has laid still and slept, even if fitfully. He has zero energy.

Elias did show more life for a little bit this morning but it was sadly short lived. There was a tiny smile and a few fishy kisses. He also tried to sit up a few times, succeeding once and then turning pale white and literally crashing. Poor little guy. So we will just sit here again today and maybe tomorrow. If they are unable to progress on Monday then TPN and Lipids will be considered. We are hoping it doesn't come to that. While it provides needed nutrition when there is no other way it is very hard on the body. Thank you as always for your continued prayers and support. We will update as things change.
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It Works!

2010-11-12T08:33:00.001-05:00

Elias had his first poopy diaper yesterday just before noon, which is a good indication that everything is working. That is not to say that he is not still in quite a bit of discomfort. His stomach is visibly distended and hard as a rock from all the gas and green bile is flowing from his stomach into a vented trap. We were able to stop giving him Valium last evening and over night. So that is a positive.

A brief way of describing what is going on is to remember that this is the first time his colon is working "as it should." There is a bit of a shock to the system and it needs to relearn its role in terms of functionality. In the meantime the bowel is rejection the natural fluids our body creates in addition to the fluid that Elias is getting via IV. The body is forced to defend itself against the rejection of the bowels until it becomes accepting. This comes by way of retching and at times vomiting in order to evacuate what is in the stomach. The reason his bile is a dark green is simply from the liver enzymes and fluid that deposit in the stomach which a normal working bowel would re absorb and push out. So while it is a hardship for Elias at the moment every aspect of what he is experiencing is validated by this adjustment. They still are not in a hurry to begin testing his stomach and bowels yet. We fear they may wait until Monday for this, but hope not. We did remind them the length of time he has been without nutrition. The nutritionist for the vent unit came in to visit Elias and noticed the low concentration he was on and wondered why. Apparently, being off the Colorectal Surgical Unit also means being neglected for little details like having the dietician (an automatic for every patient as they are part of the unit team) follow us to ensure his needs are met. Hopefully this will be addressed and adjusted.

So more sitting and waiting and wondering what the plan is. Hopefully, Elias will feel better, be more engaging and make progress today. If there are any developments we will update you then. Thanks for all the prayers and support.
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Not Much Improvement

2010-11-11T10:14:00.001-05:00

There unfortunately is not much improvement to report. The plus side is all of Elias discomfort and issues are explainable and to some degree validated. It is just very difficult to watch him suffering like he is. Particularly, when we are so accustomed to seeing him bounce back so quickly.

The easiest way to describe the issues is that Elias has a lot of retained gas at the moment. It is filling up the empty space as shown on his x-ray, but is beginning to also put compressed pressure on his organs. This is causing additional discomfort. The incision and surgical site is not seeming to bother him. We are continuing the every 4 hour valium around the clock to keep him as relaxed as possible.

This morning has been particularly rough for Elias. He has vomited several time already. Considering he has not eaten since Sunday morning one could imagine how particularly painful that has been. He has also been crying out more than normal, needing more frequent suction, and unaccepting of any physical contact. This includes loving contact. Can't say I blame him though.

The goals for today are to keep Elias as comfortable as we can and to hope he finally passes stool and some of that gas. Thank you all for your continued thoughts and prayers. We greatly appreciate it.

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Day 2 post surgery AM update

2010-11-10T10:11:00.000-05:00

This morning Elias was still uncomfortable and in some obvious pain or discomfort still. This is the longest we have seen him take to bounce back from a surgery, but the adjustment in his body this time around is quite monumental. We have been giving him Valium every 4 hours and the occasional morphine dose. This is the only way we can get him to relax. Poor little man!

This morning we traveled to radiology for a series of x-rays. They typically wait until stool has passed, but that usually happens by now. So they just wanted to make sure everything was fine in the bowels. Elias has not had any food or nutrition now for 72 hours. We continue to wait for stool before the slow process of working him into his feeds begin.

We will keep everyone updated as things come up. We appreciate all the continued support and prayers.
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Recovery Process

2010-11-09T18:24:00.001-05:00

Elias is still uncomfortable and in a touch of pain from the surgery. We have not given any morphine since this morning. Valium has been the life saver today. He has napped and rested well and often through the day. The urinary catheter was removed late morning and that has helped tremendously to decrease some of his discomfort.

The surgeon came in early this afternoon to check on him. He was pleased with how his stomach looked (no swelling) and with Elias overall appearance. At this point we are just waiting for gas, stool, and/or both to pass. At that time they will evaluate when to begin his feeding. He commented again on the small and tight connection from the colostomy closure and his concern over proceeding too fast and causing damage.

Elias has given some smiles but generally just wants to be left alone right now. We can't blame him. He is on 3 different antibiotics too on top of not having eaten anything since 1030am Sunday morning. All in all though recovery is progressing nicely albeit slow going. Thank you all for your continued thoughts and prayers of support.
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No More Colostomy

2010-11-08T20:56:00.001-05:00

Surgical update #2. Elias is in some pain and discomfort. He is getting morphine every 2 hours. The colostomy reversal went well, said the surgeon, but his bowel is very tiny. What does that mean? It means they are going to be more conservative with how quickly they resume feeds after he begins passing gas and stool through the rectum. The concern is that the point where the colostomy was attached to the rest of the bowel could open or not heal correctly if they try to press getting feeds flowing. This will keep us inpatient about another week possibly more. We are hoping that Elias will do as he always does and recovers quickly. Tonight there is also a urinary catheter in place which is causing him just as much discomfort. He has been asleep most of the evening only waking long enough to grimace in pain, cry a little and the morphine knocks him back out. Rest well and long little man you deserve it. The hourly bowel cleansings pre-op last night ended up literally going until 5 am, do 10 consecutive hours, so Elias got very little sleep last night. So he has even more reason to be exhausted. We are not positive but it seems like the catheter will come out tomorrow, that is our hope too. For now it is just sit wait for gas and stool and heal. That is the plan and being stuck in that crib is going to drive Elias NUTS! We will update tomorrow on the developments and improvements. Thank you all again for your continued thoughts and prayers. Everyone’s support is greatly appreciated.

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Surgery update #1

2010-11-08T15:07:00.001-05:00

Elias has been in surgery since about 1130am. The colostomy reversal portion. Which is the longest segment is last and being done now. Pulmonary and ENT did bronchoscopies and urology did a cystostogram with urethreal dilation.

Those three are complete now. The airway team said that not much has changed and they had hoped to see some improvement, but haven't. Elias airway is still very flat, small, tenuous, and at risk. They are still scratching their heads trying to figure out how this child is breathing as well as he is. We will accept the gift that he is giving and continue with caution as we have been. So that is positive despite no physical change. What we really need, and the emphasized this again today is for Elias to grow! Damn FA and its growth issues! It will make our GI appointment next week interesting.

We will update again when Elias is out of surgery and we know more about his colostomy reversal.
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The Term “Planned” Admission Used Loosely

2010-11-07T21:51:00.001-05:00

Well this day pretty much went as expected, a crazy chaotic mess. We were told to admit Elias this morning at 10 am for pre-surgical prep. It took until six this evening for any orders to be put in the system for the nurses to do anything, so we sat there and no one could do anything or tell us anything. Why were we there so early if they were not going to start anything or even put orders in? The sad part is we had spoken with the colorectal nurse coordinator just a few weeks ago and rehashed the insanity and unprofessionalism that surrounded our surgery by the same team in June. She assured us that would not happen this time. Well she was wrong. Sadly the events in June were so bad and unorganized that the patient advocates office became involved. They sent us a letter outlining their review of the situation and that they would take action to improve this area. They too were wrong. Anyway, enough about that and we hope it truly ends with just today being a cluster…..

Elias is in good spirits tonight despite going through hourly bowel cleansings since seven this evening. This consists of placing a Foley catheter in the colostomy stoma and flushing saline in and drawing it out once an hour until the return is clear. Hopefully it will only take 3 or 4 times. He also has not had any food since 10:30 this morning and will likely not be fed again for another 24 hours or so. Still he is being an amazing little man, laughing and smiling.

An update on the Central line issue we informed everyone about last night….The CVC team examined the line and determined there was a weak area that needed to be repaired. This was a relatively simple procedure and done at the bedside. They cut the line beyond the weak point and fed another wire through and glued it together. That was a sigh of relief for them to be able to fix it. Though it was simple it is not without risk and much be watched closely to ensure nothing made its way into the line to contaminate it during the repair. We did have some issues and it took 3 repair kits with us literally covering his open line with a sterile gauze pad for close to 10 minutes while we waited for another kit to arrive. He appears fine and it has been used for labs and seems to be functioning well. We are very relieved that stress is removed.

We will post updates through the day tomorrow to update on Elias progress and recovery with his surgery. We are not certain as of now exactly what time he will be going in the Operating Room. Please keep him in your prayers the next few days, we greatly appreciate it.

Elias’ Central Line

2010-11-06T23:50:00.001-04:00

Tonight while doing our daily flushing of Elias central line we noticed a small bulge in the line. It is tiny, smaller than a pea, but at first we thought there was air in the line, which is VERY BAD! We scrubbed and placed a saline filled syringe back on the cap to draw back to check for air or clots. The bulge stayed the same size and the blood return was normal and consistent. That was promising. We contacted the Bone Marrow Doctor on call at the hospital to discuss this concern and see if we needed to get Elias into the ER or if it could wait. He will be admitted tomorrow for surgery prep with the colostomy reversal (and the rest of the surgical party) on Monday. The BMT doctor was fine with us waiting until we check in tomorrow and have it assessed then. This does tend to happen when there are weak points in the line. This will need to be repaired and hopefully they can or that could be bad news. Elias venous access is still very poor. So this line is critical for surgery, meds and IVIG. We feel better after having discussed it with the doctor, but we are still hoping that it will not postpone the surgery or that the line will have to be pulled. We will keep everyone posted on this development as well as Elias progress and recovery. We are not certain what time Elias will go into surgery on Monday, but as soon as we have any details and are able to share we will. Thank you in advance for all your thoughts and prayers.

Visits, Meetings, and Day to Day

2010-10-29T14:13:00.001-04:00

This week Katharine’s grandparents from Florida came to visit. This was the first time in several visits that Elias has not been in a hospital. Actually, he was home one other time, but was very sick and we ended up being admitted that day. It was great for them to see Elias thriving and happy oh, and walking all over the place! He had such a good time being a little ham and showing off. We are thankful for that opportunity.

Just a few items to quickly update everyone with. As we just mentioned Elias is officially a walker and quite good at the recovery and balance. He is loving his new found freedom. This past week we had our transitional meeting with the early intervention team and the public schools. Hard to believe we are already talking about school for Elias! He is slated to begin pre-school next fall, which is a half day program at the schools. Elias will more than likely be home-bound because of his continued immune suppression issues as well as the risk with his airway. The pulmonologist will evaluate again in the summer, but is not optimistic that status will change. At least it wasn’t a stern “NO!” Given that likelihood we discussed that with the school. They are able and prepared to send a teacher to our home for Elias in addition to continuing OT, PT, and Speech at a more limited level than we are receiving now. Their official assessment of him will be in February with a formal Individual Education Plan (IEP) meeting in April. It all sounds very accommodating and well supported. We have been told by several people that we are in a very good school district. If that holds true we will be very fortunate and blessed.

Elias has had some issues this week. He has tested positive for C-diff, so we are treating him with vancomycin again. Then we thought he was catching a cold, which would not be good for many reason. Fortunately it seems to have vanished as quickly as it appeared. We have started to see the suction need increase though. Last evening over a six hour period I suctioned him over thirty times. That is a lot of suctioning, but ‘tis the season! Last but certainly not least we are preparing for Elias next surgery very soon. This will close the colostomy! Hurray! We will be very happy to see this go away and it will be another huge step and change for Elias! We are hoping that things go well with the transition. We are not certain how long it will take for us to determine his continence success, but that is one concern that still exists. Tagged on to this surgery will be several other doctors doing various procedures. We appreciate all the thoughts and prayers in advance for a quick and smooth recovery for our strong little man as he endures yet another round of surgeries.

Apnea, MRI Results, & A New Concern

2010-10-22T01:11:00.002-04:00

It has been a long rough day. Elias has stopped breathing 11 times in the past 26 hours. 10 of those have been since 2:30 this afternoon. He has needed to have supplemental oxygen to recover each time. Ironically, the neurologist called this afternoon to discuss the results of the MRI last week. There is no evidence of seizure activity or issues anatomically that would suggest a Central Apnea. That does not mean this still is not the case though. Of course, a cut and dry answer for Elias!? Never!!!!!!! The neurologist did ask a series of question about today's episodes to get some other information. She is pretty confident that this is not seizure related based on his interaction response during each episode. We also ironically just saw Pulmonary on Tuesday which I will update on that visit this weekend. Everyone agrees that this is not going to be an easy mystery and that handling this the way we have is still the best. It is just stressful, worrisome, and exhausting.
The only other finding to the MRI is a mass in the white matter of the left frontal lobe. While this type of thing could show up for a number of reasons, most of which are inconsequential, there is a need to treat it with respect. There is a small chance it could be a tumor of some sort. We will repeat the MRI in about 4 months. Even if this shows up again that doesn't always mean anything, but might prompt further testing. Even though she was downplaying this finding, it is a little unsettling. Just one more thing to be concerned about. It just never ends. We will keep everyone posted on this, but it will be a few months before we know anything more. Tonight we have other, more pressing concerns with Elias breathing.
At the time of this posting Elias is sleeping and on the ventilator. It is doing all the work though. We think he is so exhausted his body is allowing the vent to breathe for him. We had to raise the rate to 15 bpm to keep his Sats up but hopefully he will relax, breathe on his own when he can and be better tomorrow. Thank you all for you concerns, thoughts & prayers, especially for the newest issue.
By the way if you haven't seen it already, check out the Videos in the side bar to the right. There is a short new video of Elias walking and kinda babbling! It's adorable!
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MRI Scan

2010-10-15T11:54:00.001-04:00

Elias had an MRI of the brain and cervical spine yesterday. Neurology ordered the scan to repeat a seizure protocol and rule out Chiari malformation. This was another attempt to discover the cause of Elias apnea episodes. The doctors want to compare it to the last MRI which was done in September of 2009 two days after the first appearance of Elias episodes. Elias did well through the scan and recovered quickly from the anesthesia. There was, as always, concerns that Elias would have to be admitted due to the risk associated with his sedation. His risk is much greater than most because of his airway issues. We have not received a report on the reading of this MRI yet and not certain when we will. If we have not heard anything by Monday we will call. No news is probably good news in this case though.

We had hoped to get the Functional-MRI as well yesterday, but it was not in the orders. We are not sure if it was because of scheduling or the neurologist that the red light was put on for this. The FMRI is the research scan we mentioned in Elias’ last ENT update. It was disappointing, but as we said before it was all for curiosity and not diagnostic. Another opportunity may present itself in the future.

Two Years Ago – Reflecting on the Change

2010-10-09T00:10:00.000-04:00

It was two years ago that we were told the results for Elias Fanconi Anemia test had come back positive. The one diagnosis we did not want. It was just one day after our third wedding anniversary. The doctors had so desperately pushed to have a meeting on October 8th, but by the grace of GOD our itinerary would not allow it. That would have placed a very somber cloud over an otherwise joyous day. It did take a little luster out of Elias’ initial homecoming just a week later. We have come a long way as a family and Elias, despite set backs has really started to flourish. Yesterday we celebrated our fifth wedding anniversary. The best gift of all was having Elias home with us. This was the first in which Elias had not been hospitalized during this time. What a blessing! This anniversary really gave us a chance to reflect and evaluate many things in our life. It has certainly been a rocky few years with many challenges. It has been these times that have made us appreciate our wedding vows to each other. It is important to live these words not just say them. To quote a friend,

“Love is taking the good with the bad.. .in sickness and health to death do us apart. Why don't people understand that love is feast and famine? It isn't always about having what you want... it is about making it work because you are stronger together than apart”

This quote is ever so true! Our response and addition to that,

“We thank God for each other every day and know we could not go through all we are with Elias with any other. If you take the time to embrace each other during the storms you'll find that walking through the rain is easier than you think. And when the sun shines again you truly appreciate the beauty your love has to offer.”

While things have changed a great deal in the past few years one thing has and will remain constant, our love as a family. That is what pulls us through the tough times and has us rejoicing the wonderful ones. We try to look at tomorrow as something to look forward to and not something to dread. This week we have been particularly reminded of how devastating FA can be. Watching a child and his family endure the most difficult time while waiting for their child to pass any moment. There are several other FAmily’s that are also having difficult times with various issues. It has been a rough week on our community. These moments shape us should we desire them to or not. It is the reality of FA, one that if any of us could would abolish. Thank you all for your continued support, thoughts and prayers. We will continue to need it as we moved forward to face Elias new challenges. God Bless us all!

ENT Hearing Update

2010-10-06T15:54:00.001-04:00

We met with Elias ear focused ENT this morning. After discussing how Aural Rehab is going and the BAHA hearing aid he is in agreement that there is still little to no response. He is still leaning heavily towards a Central Hearing loss and wants to try and coordinate a research functional brain scan during Elias MRI next week. This new scan colors the portion of your brain than is functioning. While it won’t be diagnostic it will be interesting to see how the auditory portions of the brain respond. If nothing else it can show that everything is intact or if there is an area that the channel is “broken.” We agreed to do this because it will only take 10-15 minutes more during his MRI. The doctor also gave us some positive news overall though. He mentioned that children who are profoundly deaf will babble, but then go silent. Elias is increasing his babbling. While that does not mean he is hearing, it supports the central hearing loss theory. He said that he has high hopes for Elias and his ability to communicate and one day hear. It just may take many years. But we are on the right track and he feels like everything we are doing is exactly what Elias needs. That certainly made us feel a bit more positive about a subject that has plagued us for over 2 years. We will take even the tiniest bit of positive input for this and make it huge.

Please pray for FA patients around the world. There are several families who are really struggling with transplant related issues, cancers, and sadly loss of life. Particularly the Boggs family who’s son Nicholas is at home on hospice. This week has been rough on the FAmily. There have been several somber reminders of how unpredictable and wide range this disease be to harm its patients. Thank you all for your continued support, thoughts and prayers.

A Few Items & Prayers Requested

2010-10-03T09:25:00.001-04:00

Our apologies for the length of time between updates. Things have continued to remain very busy. It seems as though there is something constantly happening at the moment. Elias continues to do fairly well health-wise. He has had a few bumps and blips, but mostly from the change in weather.

We have been testing his blood sugar before feedings, during feeding, and one hour after feeding. This information is for GI as they try and figure out the symptoms Elias is exhibiting during feeds. He sweats, retches, coughs, and occasionally vomits. We will be submitting the results on Monday and I guess wait and see.

Elias continues to work on his walking. He is getting stronger and more consistent. He really enjoys it. He loves to walk back and forth between Mommy and Daddy. He gets so excited! We have also discovered that bubbles are very amusing to him. He loves trying chase and pop them. He enjoys them so much he usually gets mad when it is time to stop.

Our busy schedule will continue through October and even into November. Many weeks having as many as five or six appointments. In addition to those Elias also has an MRI upcoming as well as another set of surgeries. Please pray for Elias and the rest of the FA FAmily. There are a lot of families struggling right now with this disease. Many children and a few adults are really fighting some rough battles and are very sick. This disease affects patients in so many ways, it is horrible.

Slideshow

2010-09-24T15:20:00.001-04:00

Just for fun we put together a slideshow of Elias! covering the past year. These are some of our favorite photos of him from that period.

Assistive Technology Communication Evaluation

2010-09-22T22:00:00.001-04:00

Tuesday Elias had his long awaited evaluation for communication with assistive technology. To give you an example, think Stephen Hawking. The hope is for this new team of occupational therapists and speech therapist to identify an appropriate device to help Elias with his total communication efforts. Yes, we are still working on basic signs and of course the Aural Rehab in the hopes we can evoke an auditory response. This is just an additional layer of assistance to try and keep Elias as close to on target developmentally as possible. Also with Elias’ arm and hand malformations (mainly the missing thumbs) some signing may be difficult to adapt or be translated properly down the road. They spent several hours watching how he manipulates and engages various toys, situations, and most of all people. They were very impressed with the ability he has with his hands and his fingers. We played with a few different computer devices that have the ability to grow with him. This is where the challenge falls. Insurance will only cover one device every five years. So you have to really think ahead. Finding something that is functional now but will still be advanced enough for him when he is seven. That is tough! There are also trial periods that must be done before the final device choice is made. This process is going to take quite some time. With our four follow-up visits planned and the difficulty getting in it is looking like it will be next spring before this process really makes a push. That was a little disappointing. We were expecting something that was going to be done with a bit more urgency. Especially since the developmental pediatrician pushed so hard for us to do this to establish some form of active communication for Elias. They did suggest that we try a touch pad, much like you find on a laptop. They feel this or a modified stylus will be his ultimate facilitator with the proposed device, whatever that may be. We are hoping that our early intervention program will have some available to use. We did write our IFSP with the potential of exploring assistive technology tools versus specific ones. Wish we had more information, but it is a slow step in the right direction. We do not even have an opportunity to go back for our next follow-up until mid-December. That was the first available, crazy!

GI Appointment Review

2010-09-19T08:19:00.001-04:00

We took Elias to see his GI team last Thursday. They are the team responsible for managing Elias feeding and overseeing his growth. Unfortunately the politics of the hospital plus the fact that Elias is part of the Aero Digestive Team prevent him from seeing the Fanconi Anemia GI specialist. It is a long complex and idiotic issue. It actually took the FA dietician pushing the dietician that is part of this team to actually set an appointment. So many thanks to her for helping us rage the battle and winning. FA children can not be managed on paper and that is what this team is trying to do. It is even easier now that the hospital is on a new computer system that allows all a patients information to be access across multi-discipline channels without waiting. On paper this is an amazing tool, but we refer to this system called EPIC as EPIC Fail! This is mainly due to the fact no one truly knows how to use it properly. Each doctor, nurse, or support staff learn the minimum and still struggle with it. That in turn leaves information out and prevents the most current information from being accurate. We know this because every clinic visit we have to make the same changes repeatedly.

So on to the appointment...

According to the scale in the GI clinic Elias now weights 8.4kg or 18 1/2 pounds for us Americans, and is 28 1/4 inches tall. His last weight 3 weeks ago was 8.02kg at his IVIG. That is a big jump for someone that has hovered at the 8.0kg mark for nearly 8 months now. We go back for IVIG this week so we will see how the scales correlate. If he is back down the we are going to question the best how we will go about tracking things. As we were mentioning earlier the FA dietician also helped impress on our team’s dietician that FA patients must be physically seen versus trusting plots on a growth chart. This is due to the varying growth factors. As with Elias although he his almost 2 1/2 years old he is still the size of a 6-9 month old. However, when you see him he looks healthy and even has a little chub on his thighs. That means he is getting the calories and volume he needs with his feeds. On the flip side the paper assessment dictates increasing his calories and volume intake because his growth chart has plateau rather than keeping a curve. After minimal debate from us GI has agreed to regularly scheduled visits every few months for this monitoring.

While we were there we brought up the issues we mentioned a few updates ago about potential dumping with his feeds. They agreed that there might be some concern. We need to track his blood sugars now for a few weeks to see if they are changing during the episodes. So we are having to do this at the start of each feed, at the time he begins to exhibit the symptoms and again 1 hr after the feed ends. This will amount to about 12-15 checks per day for a couple of weeks at least. Hopefully, this will be short term and not become a regular routine on top of all the other things we have going on with his cares. They did say that even if it is positive for dumping they do not feel as though there is any chance this has any connection to the apnea episodes, even though there is documentation that this type of event can occur time to time if the conditions are right. So we will see what we get with this and pray that there is not much issue.

Best Birthday Present Ever!

2010-09-18T00:02:00.000-04:00

This year for my birthday Katharine commissioned an artist, who happens to be a friend and HUGE fan of Elias! to paint a portrait of him. It is stunning and so alive. His eyes plus his arms and hands are what stood out immediately to me. They are very accurate and a wonderful depiction capturing his truly amazing spirit. Thank you Katharine for thinking of this. Thank you Christy for Painting it with your amazing talent and most of all Thank you Elias! for being the most amazing son a Daddy could ask for.

Pictures!

2010-09-16T21:24:00.001-04:00

Here are a few photos we got for the month of August. Hope you Enjoy!

End of Week Wrap-up

2010-09-11T18:21:00.001-04:00

We apologize for not posting anything most of the week, but it has been extremely busy and an even more stressful week. Elias is fine health-wise. The stress generates mostly from some changes and issues with the nursing scenario yet again. We just can not seem to get a positive handle on that and unfortunately that is something completely out of our hands. We are not going to even dwell on the negatives in this update as they just are not worth putting up. We will say things are not going well and there is going to be rougher days ahead for us if answers and solutions do not come about quickly. Now, on to Elias!

There are some great things to update with our little man. While he is not yet consistent with it he improves everyday with walking. He is very focused on this. So much that we are unable to work on other therapies at the moment. As his speech therapist said, “he is in motor mode.” We were pleased at how well Elias did during Aural Rehab this week. Once we convinced her to let him stand versus sit on Mommy’s lap things went much smoother. He is beginning to make babbling sounds and while we want to see that as a positive sign we have been warned that even children with known profound deafness will engage in that behavior. However, the fact that he is doing it more is a good thing even if there is not any element of hearing at this time still. Which the therapists are still 99% certain there isn’t. It is still cute to watch and hear him do this as he plays. He is doing more mimicking as well.

Elias has been in great spirits the past few weeks. It has been so amazing to watch. He has had some off days and been battling a few issues here and there, but overall he has been very interactive and transitioning into a new play style which of course is appropriate for his age and development. For the first time since he has been walking Elias got to see his physical therapist who has been anxious to see him doing this. He had a wonderful and exciting session. As she put it, the hard part for her is in the past. Now it is about fine tuning and strengthening this ability. Elias progress and spirit this week has been a God send towards providing some relief. We say time and time again how he makes it easier to deal with all these issues.

On the health front here are a few things of note. The mysterious, but nothing to worry about lumps on the colostomy are getting a touch bigger. We are seeing GI soon and will probably force them to look at and identify those. He is also still consistently exhibiting the behaviors of sweating, retching, and coughing with the majority of his feedings. Again something we hope GI will address. The dilation process is entering the next stage in which we will very slowly begin to taper the frequency in which these will be done. We have about 1-2 more weeks of twice a day then we can move into a once a day routine for the next 3-4 months. Assuming no set backs or issues with this process we will be completed with this by May or June of 2011. That can not come soon enough as that is certainly the most difficult thing we have ever had to do. Finally, we are still trying to get rid of a rash caused by his last round of antibiotics for C-diff. The doctors did not order the hold on the prophylaxis antibiotic this time so he was a bit overloaded and it caused a rash. Most of it is cleared but there is still a stubborn patch near his colostomy that we just can not get rid of. We have been told if it doesn’t clear by the end of next week he will need to be seen again. That about wraps up the doings and goings of this week.

Some Updates on Old Business

2010-09-07T18:10:00.001-04:00

We had visitors over the Labor Day Weekend. Grandma O. and Aunt Kelly came for a visit. They were especially excited to be able to witness Elias continuing to try and walk. He did very well with this over the weekend. At times he could take 10 or so steps before losing balance and falling down. As his speech therapist said this morning, “Elias is in motor mode.” She was commenting on the fact that he was completely ignoring everything we were attempting to work on. This is appropriate behavior though. So there are no worries.

We mentioned in the last update that we were monitoring his feeds more closely after his speech therapist pointed out something we had noticed before, but had never correlated. It is not problem as of yet, but we have been logging his behaviors and patterns. After nearly a week of doing this, we are a little concerned by the consistency of what we are observing. We will continue to track for another week before heading to GI with the results. Then we can determine if there is truly a problem or a coincidence of events that describe other issues.

We also spoke with the FA nurse coordinator this week. She was calling to inform us that the doctors have finally come to an agreement on the MRI issue. Elias’ Bone Marrow doctors were inquiring the clinical value of the suggestion for another MRI by Neurology. Based on a review of the one done last September there was significant reasoning given to warrant the sedation risk, but also the radiological imaging exposure which has to be limited in FA patients. The Neurologist wants a complete seizure protocol done during this MRI to rule that in or out as the reason why Elias stops breathing. Also during that MRI she wants imaging of the cervical spinal area to ensure Elias does not exhibit a Chiari malformation. We have not really been given much of an explanation as to why she thinks this may or may not be an issue other than it is somewhat common in Fanconi Anemia patients. Maybe it is more to rule it out as a concern down the road since we already have him exposed and sedated versus being potentially linked. We hope to have an answer on that soon. This MRI is going to be around mid-October, a few weeks before his next surgery. The final bit of good news we received was that Elias’ IGG levels seem to be doing well on this monthly IVIG infusion schedule. We were having to do this every other week. While this is positive news we have been given notice that once cold, flu and sick season begins it may be necessary to make them more frequent again. We are fine with that. We firmly believe that IVIG was what kept Elias relatively illness free last winter. While very costly it is totally worth it.