genetics appointment

I had a genetics appointment today with Jax. We have never been able to talk to genetics after his trisomy 21 diagnosis because Jax was constantly in the hospital. I knew that he had a rare form of trisomy 21, so thats why I wanted the appointment.

It was quite the learning experience for me. Jaxson has robertsonian translocation trisomy 21. That only happens in around 3 percent of all trisomy 21. 95 percent is nondisjunction trisomy 21. Now I'll try not to lose you and explain this. In most translocations, the third 21 chromosome attaches itself to the 14 chromosome. In Jax rare case, his third 21 attached itself to another 21. So in reality, he only has 46 chromosomes, not 47, because they are attached. Isn't that crazy? He has trisomy 21 but has 46 chromosomes! This is also the one trisomy 21 that is inherited. Either me or Ray would have 45 chromosomes. One of our 21 would be attached to 14. It has no affect on us but makes us carriers. But because we have 3 healthy kids, and no history of miscarriages, he thinks we are ok, that Jax defect was a fluke. So once again Jax writes his own medical book. He also said that in his 30-plus years in genetics, he's never seen a down syndrome child with this severe of medical problems live as long as Jax. He said they usually pass away before their second birthday. And he knows we've had a couple of close calls, and calls him a true miracle! I know Jax is a miracle, but to have a genetics doctor tell me he shouldn't be here just blew me away!

Also his pulmo called while I was in the clinic. His sleep study is ok. The only thing is his EEG still looks horrible. So he seizes all night. The bad news about this is that gives us no explanation as to why he wakes up so much at night. And no relief in sight. I'm now wondering if this constant seizure activity is contributing, so thats a whole new avenue we will have to pursue, because so far his seizures have been untreatable. He is on 3 seizure meds and the ketogenic diet. So although I don't see many visible seizures anymore, his brain is still constantly seizing, so in effect its slowly killing the brain.