Posted by Mom to Will & Cate on Monday, April 21, 2008
We got the results on Will's UBE3A test back last week. They were negative. I know to most people this would be great news, but I was actually a little diappointed. I know in my heart Will has Angelman Syndrome (AS), and there is even a doctor who is a national specialist on AS who thinks Will has it too. Now, we'll have to wait on a clinical diagnosis. It doesn't change who Will is or how he would be treated (therapies, etc), but it would have made other things easier. Oh well, I know God knows what He's doing!
I also spoke with that doctor about Cate. I told him about her trouble gaining weight and all the colds and respiratory tract infections she gets. I told him that her newborn screen was positive for cystic fibrosis (CF), that her sweat test was equivocal (no help at all in diagnosing her with CF), and that her mutation panel was negative (makes it less likely that she has CF). I asked him if she should undergo futher testing to diagnose CF, and he said it sounds like she has a malabsorption syndrome and we should see a GI doctor. He said CF would be less likely. This is a good thing because the average life span for someone with CF is 30 years, and malabsorption syndromes are treatable. So, now we're in the process of getting Cate in to see a pediatric gastroenterologist. There is only one group here in Tulsa, and they actually recently had a partner leave, so it will probably take 2-3 months to get in. Pray she does well and continues to grow and that we'll get an answer, one way or another, as to what's going on with our teeny tiny princess!