Never would I have imagined that I could have such a beautiful child. One of the characteristics of Angelman Syndrome is the extremely happy temperament. Kendal literally lights up wherever we go. It's funny because she is so used to people looking at her and coming up to her that when somebody doesn't, she gets downright irritated. It's the funniest thing to see!! If she was only talking, I'm sure she would say, "Why aren't you looking at me. I'm such a doll!"

We are still eagerly awaiting the call from the geneticist concerning the last tests that were completed. From what I have gathered, most children (70%-80%) with AS have a deletion positive form - which appears to be the most severely affected children. Approximately 3%-5% have what they call an imprinting defect that causes Angelman Syndrome. About 2%-3% have an Uniparental Disomy (UPD) cause. And the remaining amount appear to be caused by some sort of gene mutation. We are certain that her AS was not caused by a deletion or the Uniparental Disomy. The geneticist is supposed to go over the last testing that ruled out UPD, and advise us of the next round of testing. The testing is to help us determine reoccurence risks in another child.

It's wonderful to have access to so many great doctors at Vanderbilt Children's Hospital. Kendal currently has 5 specialists - Neurologist, Psychologist, Geneticist, Child-Developmental Specialist, and a Gastroenterologist. (It's a complete nightmare to keep up with them!) The blessing is that we have excellent health insurance and access to pretty much any doctor we want to go to. The down-side is that because they are specialists , they are extremely booked, as people travel from out of state to see many of these doctors. Regarding the geneticists, it has been 6 weeks since her testing, and I haven't yet spoken to our genetic counselor. I want to wring their necks sometimes, but overall we are just lucky to have such good (but busy) doctors who see Kendal.

I wanted to let everyone know about the research study that Kendal has just gotten involved in and the great feedback we have already received on it. Stay tuned for my next post!

***I want to note that I am in no way an expert of any of the information on Angelman Syndrome. I am trying to learn all that I can as quickly as I can. If I have misspoken on any of the medical information, I apologize.***