I haven't posted in a long, long time but I really need the help of the great minds here.
I have a 5yr old who was born with multiple abnormalities:
double tooth
twisted feet
eyes that didn't align (almost like SOD septo-optic dysplasia but negative diagnosis on that, very thin optic nerves though)
sacral dimple
low muscle tone
bicuspid aortic vale
high palate
low igf, thyroid hormones, etc
clear global delays
not diabetic per se, but has to have his blood sugar tested daily, also ties in with his low igf-1 levels
had large tonsils and adenoids that were recently removed
irregular inner ears, has to have tubes or he will constantly bleed out of his ears, has "granular" ear drums from sustained bleeding/damage, and has moderate hearing loss.
Under active thyroid
diagnosed microcephaly (small head supposedly, but doesn't look like it)
has grand mal seizures
I also believe he is a carrier of factor V leiden https://en.wikipedia...Factor_V_Leiden
behaviorally, he functions as a 1 year old but is 5. He will be repetitive in his actions at times, fixating on a toy that does something, and will sit and make it do it over and over for hours
He loves music, the outdoors, tv, riding on tractors and is interactive with others/enjoys playing with other kids
He did experience some oxygen deprivation at birth, but to me, this doesn't explain these physical abnormalities.
He has literally 23 specialists (who don't seem to know anything).
Hes also a trooper, and an amazing little guy. Warms the heart for sure. To us he is perfect, but for him, we would like to figure him out to maximize his quality of life and potentially cure him.
After extensive genome testing, they still don't know what is wrong. They believe he might have his own syndrome named after him, or it might be that he has multiple overlapping syndromes and thus, difficult to diagnose. Most closely fits Angelman syndrome (he is always smiling and happy too, which is a hallmark) https://www.angelman.org/
I can't even begin to explain the amount of testing he has had.
He is on levothyroxine (t4) for under active thyroid, hgh to raise igf-1 levels so he can grow normally (this also helps with low blood sugar), and kepra for seizures.
His most recent endocrinology results are:
t4, free 1.13 ng/dl
cortisol 11.4 mcg/dl
igf-1 100 ng/dl
He's been on 33.7mcg t4 (which they keep increasing), and they just upped it again to 44mcg based on these labs.
So my questions are:
1. It concerns me that they keep upping his t4 anyway, and added to that is my concern that there seems to be no regard to t3, especially when they influence each other. What are your thoughts here?
2. Generally, what are your thoughts on his entire situation? We are really at a complete loss. Any insight and/or ideas would be GREATLY appreciated.
