I can not believe it has been a week since I have been able to update. We are still working on the orthopedic hand surgeon update. We have not forgotten we promise. There is just so much information to filter through to put together in a logical flow. We hope to have it done in the next couple of days. Things have been steady and busy around here. Overall things have been positive with little to no issues. With Elias developing so much he has become super active and always on the move! That is a pleasure to see. Speaking of developing, just a few days after Elias figured out his own way to get from prone to the sitting position, which he is still perfecting and not able to get consistently yet he began to actually crawl from the knee and weight bearing on the wrists position. It is a slow and deliberate crawl, but a very close simulation of what you typically associate in your head when you think of kiddos crawling. It is so amazing to watch his determination in these activities. You can almost read his mind from the look on his face what he is thinking. He is so proud of himself too when he does something he is working at, he gets a huge smile on his face generally followed by a little bounce of the torso. We of course, make a huge deal expressing our pleasure to him so that he knows he did something amazing. That gets him extra excited and happy which we hope is what continues to encourage and drive him to continue. All the developmental therapist have been very pleased with Elias’ progress the last few weeks and his drive. Especially, since they have not really done much. He is doing this on his own, which is a very good cognitive sign. Along with these great strides in development Elias is beginning to display age appropriate behavior in the tantrum department. At times he is down right hilarious to watch during these tantrum episodes. None the less they too are a welcome addition to Elias repertoire.
We met with Endocrinology at the FA clinic last Thursday. The endocrine system is an information system for our bodies, mainly through hormones regulating things such as growth, development, metabolism, and tissue function among others. In Fanconi Anemia research has shown that short-stature along with growth and feeding issues occur frequently in patients. The Endocrinologist help to manage and proactively assist and resolve these issues. In Elias’ case we already see that he is very small for his age, even for FA standards. While this is a little concerning for them, they are not in a hurry to really do much. At nearly 21 months now, Elias currently weighs 7.5 kg or 16.7 lbs (growth chart 50th percentile for his age = 12.5 kg or 27 lbs) and his height is 68.9 cm or just shy of 27 inches (growth chart 50th percentile for his age 85 cm or 33 1/2 inches). We know in his photos he looks much bigger and compared to his birth numbers he is. One positive that resounds from all his doctors, but was echoed by the endocrinologist is that he looks healthy and well nourished this contributes to why the photos are so deceiving. While this is truly of no consequence overall and not something worth dwelling over this could signal an underlying issue with other functions of his body that could be contributing to this deficiency. One thing that might be playing a role in this is that Elias is missing part of his corpus callosum, the band that separates the left & right hemispheres of the brain. While this would signal potential development and motor skill issues, this could be the first indicator they review to see if it has any implication with the growth issue. In reviewing our own records, which unfortunately the endocrinologist did not have, on May 6, 2009 nearly nine months ago, Elias weighed 6.7 kg or 14.93 lbs. That means Elias has only gained 0.8 kg or 1.77 lbs in the last nine months. Those are significantly low numbers. Just for reference sake, that puts Elias at roughly the size of a 6-9 month old at the 50th percentile on the growth chart. He doesn’t look that small in his photos does he? Eventually, there may be the addition of growth hormones to his regiment, but there is no hurry right now to implement this strategy just yet. Labs will be drawn this week and analyzed. They do not expect to see anything specific. This is more of a baseline reading and want to follow-up about every 6 months unless his other doctors feel it necessary to come earlier. The only other concern they had was with the hypospadias in the genitalia area. There could potentially be some issue with that. This is not the first time we have heard this. From an endocrine perspective there may be concern with Elias ability to potty-train, which we are a long from anyway, but just another item we need to keep on the radar. The testicles are also not quite descended and one can no longer be found. Again not the first time we have heard these things, but obviously this gears us up for potential action and higher priority. Urology was going to be sent a note about endocrinology's concerns which will be welcomed I’m sure from his urologist in justifying moving this up ranks in terms of potential importance for Elias health. All in all a very positive appointment and it seems like there is some room for potential interventions in the future and a larger role for them in the coming years.
On deck for the next few weeks has us going in again this week for an IVIG which has been decided to be administered every 14 days now, ugh that is going to be expensive at $1500 a pop for the medicine alone. Elias also has his first dental appointment with the FA dentist here. Our rescheduled Colorectal appointment is coming up, so we should have our next surgery date soon. Then there is the follow-up to the ABR with Elias ENT ear expert. We also are trying to squeeze in a consult with the BAHA audiologist specialist and a occupational therapist specializing in hands. Somehow between all this we will be scheduling in our six month IFSP for Elias development therapies along with those four therapist (physical, occupational, speech, & developmental interventionist) each once a week. It seems like whenever we look like we are getting a reprieve we gear up again full force before we even settle. It simply amazes us how intense the scheduling can be at times, but we always manage it somehow without too much issue. Hope everyone has a great start to the week!