Monday, March 10, 2008

Back Where We Started (sort of)

We just got home from Toronto after meeting with Dr. V. As of right now, Joey's diagnosis of Angelman Syndrome is not confirmed. As we suspected, and previously posted, the deletion found in both Joey and I is unique and ambiguous. The function of the area on the 15th chromosome where the deletion was found is unclear, and to further define it's relevance both of my parents need to be tested. My Father spent over 7 hours in his car today and provided his blood sample at the hospital. Arrangements to obtain a sample from my Mother are underway.

Dr. V. has been busy doing research and contacting the geneticists I found in the US. She is looking at having his DNA "sequenced" at the Baylor College of Medicine in Texas, one of the research sites for Angelman Syndrome. This would basically focus on studying the 15th chromosome in even more detail. Dr. V believes before we go ahead with this test it would be helpful to get the lab that did the original test to communicate with the lab at Baylor directly.

Dr. V took some pictures of Joey today and examined him. She has a genetics conference in the US next week, and asked permission to present Joey's case in order to try and find other geneticists that may be able to help her interpret the lab findings. Of course we agreed, any chance to expose Joey's case to more professionals can only assist in getting to the bottom of this mystery. Who knows, maybe there are a few others out there like Joey and I?

So for now we've been granted a reprieve... When we asked Dr. V today "does Joey have Angelman Syndrome?"her answer, for now, is no. But that doesn't mean much. Ultimately Joey could have AS, but it's just that the lab findings as of right now aren't clear enough to confirm a diagnosis. The next step is interpreting the results of my parents' tests, which could take weeks. So more waiting, which is something we're getting pretty good at!

1 comment:

Erin said...

I am sorry that you are still waiting for answers, I know how hard that can be. We just found out Sean had an in-utero stroke now we are on to the blood work and an EEG. Best of luck to you.