December 9, 2008
We finally have a diagnosis for P!
I'm kind of in shock, and denial, and totally overwhelmed by it all. P had an Array CGH test last December. 5 months later, it came back with a gain on her 8th and 20th chromosomes. So the next step was for us to get tested to see if we had them also. My hubby got tested first, since he had the last abnormality that they had found in her, and we found out he had the gain on his 20th chromosome but not the 8th. I went in a couple of months ago and got my test done and we just found out today that I don't have either one. So, what does that mean? That means that she has 8p23.1 duplication syndrome and not Angelman Syndrome. She's had the clinical diagnosis of Angelman for about 3 years because she has all the characteristics but tests negative, as do 20% of Angelman patients.
8p23.1 duplication syndrome is quite rare and there's not a lot of info on it out there. Many of them also have Kabuki Syndrome and it was thought that they all did, but later discovered that they don't. Short stature is one characteristic of many Kabuki patients and she definitely doesn't have that :o) From what I've read so far, no 2 people with it are alike. There are so many different variables and none of the patients in the studies are just like her. That really sucks because it give us nothing to go on as far as what to expect as she grows up.
We have an apt with her Geneticist next thursday to have our genetic counseling. I'm sure they'll want to do further testing because they do have some issues that run in this syndrome that will need to be checked. I'm very interested to find out what the chances of her ever talking will be. That would totally make my world to know that someday she will be able to talk. Being non-verbal is a characteristic of Angelman that is tough to swallow. Imagine not being able to talk for your entire life! An Angelman diagnosis came with lots of support from a listserv of parents with Angels all over the world, lots of research through the Angelman Syndrome Foundation, and lots of info on what to expect now and in the future. We still have the support because these are our friends, but the research and expectations just flew out the door :o(
I'll update when I know more. In our eyes she's perfect just like she is because she's a joy to everyone around her and can light up the world with her smile. You can't be with her and not be happy and smiling :o) She loves with the biggest love there is and I smile just thinking about her :o) And we are ever so thankful that she's so healthy because many parents aren't so lucky and our hearts go out to them every day.
Back to square one, but we'll get there...
Posted by Jennifer at 10:13 PM