The Cast of Characters

Okay, so to make sure we're all on the same page, and because I'm adding a new player to the mix, here's what we have so far:

Dr. V - Our geneticist in Toronto
Dr. T - The Geneticist in Boston
and introducing...
Dr. W - A geneticist from the US, found through the Angelman Syndrome Foundation

(Out of consideration for the doctors, I'm using initials simply because they haven't actually consented to me using their names, and this is, after all, the internet)

Today I received a call from Dr. W, after receiving our information passed on to him via Angel Mom Becky (can I ever say thank you enough?!). Dr. W reviewed all of the information and told me that he needed further information from the lab regarding the size and location of Joey's deletion. So he called the lab, they gave him the information and he just called me back. I'll try to sum this up as succinctly as possible:

Dr. W says that based on the size and location of Joey's deletion, it is entirely possible that it is NOT related to Joey's issues at all, and that Joey does not, in fact, have Angelman syndrome. Apparently we all have "junk" DNA, and we all have little deletions and abnormalities in our chromosomes which do not affect us at all, and it is possible this is what has been found in both Joey and I. The only way to know for sure is to do further testing on my family members, beginning with my parents.

If it is found that I inherited this deletion from my Mother, then the conclusion is that Joey does NOT have Angelman syndrome, and this abnormality is not causing Joey's issues at all. The reason we can make this conclusion is because it would have already been passed from MOTHER to child (my Mom to me) with me having no ill-effects.

If it is found that I have inherited this deletion from my Father, even more testing will need to be done, starting with my 2 half-sisters (we all have the same father) and THEIR children, to see if this has been passed down from them to their kids with no ill-effects. If one of my sisters AND their child HAS this deletion, again we can make the conclusion that it is not the cause of Joey's issues, because it has again been passed down from MOTHER to child with no ill-effects.

Are you following me here? Yeah, I know, it's confusing. It's all about being passed from mother to child.

Anyway, my father has graciously agreed to be at the hospital on Monday to provide samples to be sent for testing, which is the next step in solving this mystery.

On one hand we are happy and excited at the prospect that Joey may not have Angelman syndrome. On the other hand I am incredibly angry...I mean, the lab report was very clear that the findings in our bloodwork result in Angelman syndrome for Joey, that is also what Dr. V told us less than 2 weeks ago, and now we're being told that perhaps the lab was too hasty and maybe shouldn't have made that determination just yet. Don't they know the anguish that has ensued based on their simple one-page document?!

For now we will try to keep our excitement, anger etc. in check and await out appointment on Monday.