So, Will was diagnosed with DAMP syndrome about 9 months ago. It seems like a good diagnosis, but it's really like a catch-all for kids with a lot of different symptoms that can't find another diagnosis. I've always felt like Will could have Angelman Syndrome. We had the FISH test done for it, and it was negative. The report said this ruled it out 85% of the time. Tonight a geneticist came and spoke at the parents' meeting at The Little Light House. I asked him what the chances were that a child could have a negative test and still have Angelman. He said 80%! Can you believe that?! That's such a huge number. He said that there can be one tiny deletion on one gene that causes the syndrome. This can only be detected with new technology called chromosomal microarray analysis. Will recently had this test done (not knowing what I found out tonight), but we don't have the results yet. I am anxiously awaiting these test results, and I'll be sure to post as soon as we get them. Will has a busy two weeks of doctors' appointments and tests coming up too, so I'll be posting as we get results and find things out.
0 comments:
Post a Comment