The Annual Jolt

Yes it has been two and a half months since our last update. Things have been that busy. In fact busy is an understatement, insane is more appropriate. This past Wednesday was the first day in almost 2 months that we didn't have a surgery, appointment, testing or therapy scheduled. It was short lived as we have been back at the past 2 days with appointments and this coming week Elias will have his third surgery in 7 weeks. Quickly for those who do not know, Elias had the titanium screws placed for the abutment on his BAHA hearing aid placed last Thursday. It was a decision not made lightly and we had to convince the insurance this was necessary as Elias is a year younger than the FDA approves. By the grace of God and much to his ENT's amazement there was very little resistance on approval and the surgery notice was literally 6 days in advance. Very little processing time. As the doctor put it, this has to be the right step and meant to be for things to go so smoothly on this end. He stated our overall hearing/communication journey with Elias has been the most unique and difficult he has seen in his career. It will take 4-6 months for the screws to calcify to the bone at which time we can begin use of the BAHA processor attached to the abutment rather than on the band, which Elias despises. Surgery went well and he has recovered nicely and quickly. In fact the day after surgery we had to return to the hospital for IVIG and he was jumping on the bed! God love that boy.

Today we went to Urology for a follow-up on several tests and procedures Elias had done last month. We were not expecting too much news on this front, but we were wrong. It seems about once a year there is something that jolts the picture. Year 1, the Fanconi Anemia diagnosis. Year 2 the ventilator. Year 3 was the seizures. Today, Year 4 Stage 2 kidney disease with the need to further study his kidney and bladder functions. To put this in perspective, kidney disease has 5 stages, 1 to 5 which is failure requiring dialysis and potential transplant. Stage 2 while serious can be managed well with all that has been learned through research, studies, etc. It is defined as mild decrease in kidney function. His GFR is 75, stage 3 begins at 59. That is positive news, but can we prevent the progression to stage 3? Part of that, from our understanding is trying to determine just how much work each kidney is doing. Ideally it is 50/50. Elias has an ectopic  kidney which is lower than it should be and misshapen. This really only matters if the "anatomy" of the kidney is such that prevents or resists function/flow. While this doesn't seem to be the case, no one has said it isn't either. We don't believe they know for sure at this stage. We did urodynamics study that was inconclusive so we need to do a nuclear scan of his kidneys. This will provide more information overall and we will know more after that. There is concern that his bladder may have too much pressure, which in turn affects the kidneys. So there was a discussion about placing a Mitrofanoff. This is a surgical creation of a catheterizable stoma & tunnel from the abdomen to the bladder using part of the bowel or appendix. Elias' hyposapdias and urethral complexities make him impossible to catheterize through his urethra so this would be the answer. Not sure were they are going to find a place on this little guys body to put it as he already has so many other opening on his chest and stomach. In addition to this there was discussion about potential surgeries, urethral reconstruction,  hypospadias repair and Ureter repair to help with the kidney reflux which is still severe. We still have the potential colostomy reversal to consider trying again as well after the failed attempt before. There has been a trend they are noticing among children with both anal-rectal malformations and hypospadias that makes all this a bit more complicated from others with similar issues according to the nurse coordinator.

The bottom line is once again Elias' exterior has fooled everyone and another serious issue is now racing to the forefront of priorities. We will be talking to his FA/Bone Marrow doctor about this as well. It is good we are getting a grip on this now as the kidneys and liver are typically the harshest affected organs during bone marrow transplant. The drugs that have to be administered through the process are just so strong, making them work harder, it is important to get these organs in as great a shape as possible to provide Elias with the greatest chance of a successful bone marrow transplant. Thankfully we are still predicted to be a few years away from that so we have time to make this problem better. As we learn more we will keep you updated. Thoughts and prayers for Elias to overcome yet another adversity are appreciated. Hopefully we can update the blog more going forward, but know even when we can not, we are thankful for everyone's support.

We All Fall Down

Once again daily life has made it very challenging to update Elias' blog. We went the entire month of February without a single post. We apologize for this lack of updates. We have been quite busy, in a good way mostly. There is really so much going on and we will be touching on many of those items in a future update. Today's update is about Elias' first real accident. As you know, Elias has spent a great deal of his life in a hospital, emergency room and doctor appointments. He has been taken by ambulance several times and has frightened us all with rapid on sets of medical issues. Every system of this child's body is affected in some way by this disease. Today we had to take Elias to the emergency room, not because of his Fanconi Anemia or any of the major health problems it has caused, but because Elias is a child. He took a really hard tumble while playing chase on the kitchen floor. He was running full speed and hit an area rug just right, tripped then went head first into the ground.

 

This photo was taken a few minutes after the tumble. It looks much worse that it actually was. The gash on the forehead did not require stitches, in fact it was merely superficial. That was a relief. We decided to take him in to get checked out simply because of all the issues he has. The doctors agreed we made the best decision and praised us for not just letting it go, especially with Elias non-clinical/symptomatic history. The area in which he hit also is the least likely to cause hematomas as it is the hardest area of the skull. While the ER doctors were pleased with Elias' responsiveness and overall appearance they still wanted the FA/BMT team to confer. Platelets are always a concern. After some blood work we were happy to see that his platelet count has gone up 20 points from the last check. Since the seizure he had been lower and was slowly trending down. Given the circumstances of the day we were quite happy to hear that positive news. With the platelets looking well and Elias responding a head CT was deemed unnecessary. Thank God! We were. Sent home shortly afterward. After Elias was cleared as not being in any danger the doctors all chuckled at the reason we were there, given his very "impressive and extensive" medical history and surgeries. It was odd to be there for something almost any other child could be there for. We will take that and chalk this up to a new experience.

All in all it was pretty frightening and thankfully looked worse than reality proved it to be. Elias was back to his old self pretty quickly. We were trying to keep him low-key, as recommended by the doctor, but not Elias! He would have no part in that. He was back to running around and playing with us shortly after we returned home. I suppose a child who has had over 30 surgeries would think nothing of a bump on the head. What a little trooper. We appreciate all the continued thoughts and prayers for our little guy. He is still cute as can be, even with that bump! We will leave you with a photo we were able to get this evening as he played. Willie the expression on his face isn't too happy, don't let him fool you. He was quite content and having fun.

 

 

Surgery, MRI, & Good News

 

 

 

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

 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.

 

 

 

This Weeks Recap

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.

First Day of Home Bound Preschool & Media Transition

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

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.  

Neurology & Endocrine Follow Ups

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!

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.

Day 5 - Closer to Discharge

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.

Hello?

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

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. 

A Full Week

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.

Two Years Ago – Reflecting on the Change

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!

Some Updates on Old Business

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.

The Need for a Cure!

This has been a rough weekend mentally. As you saw from the site announcement another FA child has gone to heaven. 6 year old Ashlynn was such a fighter. Her bone marrow transplant and the medications that go with it really took their toll on her organs, particularly her lungs. She passed away on Saturday afternoon, according to her mother’s facebook posting, in her arms around 1 pm. She just had a trach placed on Thursday in hopes that it might help her overcome the lung issues while on the ventilator. We reached out to her parents offering support and help since we had been down the trach and then the ventilator path with Elias. It was sad to hear and really created a somber mood for the weekend. It is such a senseless pity that these children have to suffer as they do, but they all do it with such warm loving and inspiring spirits.

Last weekend was a Pink for Bravery Day in honor of a family in the United Kingdom who was celebrating the life of their daughter they had lost a few years ago from FA. It began as something they just did among themselves, but this year it spread to the rest of the FAmily. All day on facebook people were sending photos to this family of them dressed in Pink. It was touching to see, we can only imagine how the family felt. There may only be a few of us families in the world with FA, but it is probably one of the most caring and supportive group of individuals, most of whom we have never met, brought together by an unfortunate disease. Which FYI in case you missed it we got an official tally on the first International Fanconi Anemia Day, $135,000 raised for research! That is quite an effort for a first year. It is going to take efforts like that though to beat FA! The past few weekends have been a somber reminder of how important it is to support research for FA. Our scientist and doctors have made incredible strides, but there is still so much yet to learn.

Thanks for taking the time to listen to us about this. We try not to dwell on the life-threatening side, but when it slaps you in the face with each passing child and adult it is difficult to ignore. It is day like these where we hold each other close and thank God for the days he has given us and try to above all else be true to being a family full of love, hope, and each other.

Sad News About Dianna

For those that remember Dianna, who we have spoken about and asked for prayers many times, we received sad news this afternoon. Dianna passed away yesterday from complications of her bone marrow transplant. She was +335 days post transplant and has fought a brilliant and spirited battle full of ups and downs. Yesterday she was called to become an angel. Please pray for her family as they try and move forward after a very long battle. We can not begin to imagine the pain they are feeling over this loss. Thank you all!

First FA Clinic Visit

Today was a memorable day being our first glimpse into the Cincinnati Children’s Hospital & the Fanconi Anemia Comprehensive Clinic. We were absolutely thrilled with our initial visit. The drive into Cincinnati is a breeze for us too!  We met with Robin, one of the nurse coordinators and Dr. Mehta who is the bone marrow specialist & Hematologist. Elias was in a playful mood for much of the visit, smiling and playing for them. They told us considering all the medical history, continuing issues, & surgeries Elias already has in his short time thus far, he look much better than they expected. That was great to hear. we went head to toe in terms of his issues and identified the teams that would need to be brought on board for his management. We also discussed some of the clinical trials and testing that is going on with research for FA and which Elias might benefit from now and potentially in the future. We all agreed that currently his greatest needs & focuses are with the Aero digestive issues (Pulmonary/GI/ENT), feeding and growth, hand surgeons (if for nothing more than a consultation) endocrinology, and colorectal (imperforate anus pull-thru) experts. Robin will coordinate and set all of this up for us. That in itself is a HUGE help. It feels great to have a plan other than wait and see. The wanting to move forward rather than being accepting of holding ground, being proactive rather than reactive is the overall theme of what we want to accomplish. It makes sense too if you think about it. This is a great time to correct some of the outstanding issues. The less he has to battle with his body during transplant the better off he will be. Outstanding issues and unresolved problems will only add to the challenge when that time comes. So as we hoped the plan is a bit more aggressive and that is in turn due to the knowledge these doctors have. They were very forthcoming and open yet simplistic with their approach. It was extremely personable and more like a coffee table conversation than a doctor appointment. Several of the FA parents told us how incredible it would be, based on their experiences. They were very right, and we are glad we took it another step and moved here to make them more accessible.

Also today we finally were able to get the loose ends tied up to get Elias a feeding pump, thanks again to the FA team. This will enable us to send back the equipment we had in Maryland. We have a few days yet before they will start calling wondering where it is, but it is a relief knowing that it is settled on this end. The only worry we have on this right now is the length of time it will take to get the State Medicaid approved through the system and our very low DME benefit on our primary insurance. Hopefully, it will last or we will be footing even more medical expenses for this equipment. We also began the intake process for states version of Infants & Toddlers. We hope to resume some of his therapies in the next few weeks.

Finally today we received a copy of the ABR report. The opening letter of the report states the following,

“The hearing loss that was diagnosed via ABR is significant, however, can be treated. It is recommended that you meet with an pediatric ENT to develop a plan for possible medical intervention of Elias’ hearing loss and to obtain medical clearance for audiological intervention.”

The report continues to explain the results, but in technical jargon as this report is obviously generated for medical professionals and not parents. We will elaborate more on this when we have gained an understanding either through explanation or our own research to decipher meaning and context. This would certainly explain why the audiologist from Infant & Toddlers and the Maryland School of the Deaf were pushing so hard to get the report before the move. They knew it would be useless to us without explanation and delayed with the beginning of new services in our new state.

All in all a very bright and productive day I would say. It was comfortable from the beginning and we were quickly reassured that this is where we are meant to be.

FA – Another Family, Again!

Another FA family is in urgent need of thoughts & prayers. Dianna is fighting for her life. She is a little over 200 days post bone marrow transplant and has been up and down since. Right now, Dianna is in kidney failure and on dialysis, lung failure and on a vent, and now it looks like problems with her liver and heart are beginning. The doctors have told her mother they do not think there is much more they can do and to possibly consider a DNR order, should her heart stop. Again we can not even fathom the weight this family is bearing right now, but ask that we all pray for a positive outcome and comfort as they get through this difficult period. Just another example of how ugly and unforgiving FA can be.