So Part 1 for today: Baylie.
Baylie has had some testing done this month with Children's in Denver. The first was with the pulmonary (sleep and breathing) clinic. They had no explanation for Baylie not sleeping. However they did give a RX for clonazepam- which is a seditive used as a sleep aid. I works wonderfully! It has been really nice to finally get some sleep- no more head banging!!!
The next meeting we had was with the genetics specialist from Children's. And after almost 4 years of searching for the reason Baylie acts like Baylie is this: she has a chomosomal abnormality. On the first chormosome pair on chromosome #1 Baylie has a triplication within the chomosome itself. This is different from say Down's Syndrom where there is an actual third chomosome. But they have never seen this triplication in this place on this choromosome. So Baylie is the first reported documented case-ever. Which means that now we have a answer, but they dont know anything about it. James and I will have to have our genetic maps done now to see if we passed it to her or if it unique to Baylie. Now if everything I just explained is Greek to you I have posted a picture below of a normal human chomosome map. The circled area with the red arrow is around the area that her triplication happens.
Okay so thats what we know for Miss B. we will start working with a Neuropsychologist out of Billings in January- hopefully they can help her with the behavioral problems.
AND if you like the pictures of Baylie they were taken by the fabulous Jenni Hitt of JL Photography.
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