Thursday, September 27, 2007
Wednesday, September 26th, 2007
Today was another busy day. Mommy and Daddy met with the geneticist to talk about Nager's. Nager's is not like other types of syndromes where they know the exact gene that causes it. Therefore, they can't test me, Mommy or Daddy to know for sure how I got it. But, they think it is one of two ways. The first, is that Mommy and Daddy are both carriers (recessive). If that is the case, then they have a 25% chance of having another baby with Nager's. The second, more likely scenario, is that it was a genetic mutation after I was conceived. If that is the case, then it would be next to zero that my parents would have that happen again. The geneticist thinks that in the next two years they will find the gene that causes Nager's. Until then, Mommy is considered high risk so if she gets pregnant again they will have her go for a high resolution ultrasound at 12 weeks. Since the jaw develops around 6-11 weeks, by then they could see the small jaw that is symptomatic of Nager's.
I also had my hearing screening yesterday and referred on both ears both times they tested me. You can see the picture above of me with my headphones on. While I was sleeping they tested my brain waves in response to quiet talking. I didn't pass the test so they are sending me on to an audiologist in the next few months to have more extensive testing. Referring on the test could be an indication that I just had fluid in my ears and couldn't hear or it could be more serious and I may need to have surgery, hearing aids, etc.
Mommy and Daddy also heard that I may be coming home as soon as Monday! I guess there is some discussion back and forth about that amoungst the doctors, nurses, discharge planners and social workers. My parents will just have to wait and let them fight it out. Until then, Mommy is going to meet with Jeanette tomorrow morning, the craniofacial nurse, and check off on training on trach and g tube care. If Monday is looking good then this weekend Mommy and Daddy will "room in" at the hospital to take care of me all on their own (with nurses close by). Daddy is coming down with a cold so they will have to ask the doctors if that will present a problem and maybe delay my discharge if I can't be exposed to him.
Peyton Nicole Smith