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.

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.

other various sundries

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.

Medical Regrouping and Pre-school considerations

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.

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.

Getting Back On Track

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.

GI Appointment Review

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...

End of Week Wrap-up

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!

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.

Hearing & G.I. Updates

Yesterday was another Aural Rehab Therapy session. Elias was not having anything to do with the BAHA. He was throwing a major tantrum when it was on. We are still trying to decipher why it is he will get that way at times when it is put on. Most of the time he is carefree about wearing it. To call it an intolerance is exaggerating. One thing the therapist brought up was that maybe the settings  needed to be checked. She wants us to set-up an appointment with the audiologist that is now doing the BAHA cases. Specifically to test him in the booth and address that the settings for this are indeed the right ones. I became quite upset over this. They are now suggesting something we brought up multiple times to multiple people and were always dismissed as that not being a potential problem. Now it is? The inconsistency is annoying me to the core. So we are trying to fit that into our already crazy appointment schedule....

Bill Nye the Science Guy Time

Image via Wikipedia

Not a whole lot to report in with this update. We have been having some unmentioned issues with Elias feeds. Primarily that he almost to the point of predictability is retching and at times vomiting toward the end of his feeds. we have watched and tried to figure out a pattern to this, i.e.; activity level, positioning, etc. but have not come up with anything that nails it. Katharine believes that it is a volume issue. That we are giving him too much at once. Sort of like overstuffing him. Since he can not communicate to us yet about these things we have to trial and error. It would make sense, if we eat too much we get sick. There are times though that he will not do it, albeit rare. Tomorrow and Thursday we are going to conduct an experiment. Feed him four times versus three for a shorter time and decreased volume. Hopefully we will no longer see the behavior and we can then address the why. If he does continue to retch and vomit then we will be heading back to GI to try and determine what the issue might be.