Tuesday, March 4, 2008

The plot thickens...

Again, upon the advice of a fellow Angel Mom (thank you yet again Erin!) I forwarded Joey's lab results and genetics report to a doctor at Boston Children's Hospital, which is a teaching hospital for Harvard University. Once again, I am shocked at the willingness of others to help us...this doctor had no obligation to even read my email, let alone respond in such a detailed way:

Hi Pamela,

Thank you for forwarding Joey's genetic test results and geneticist's report to me -- that was very useful and interesting. After looking at the report and looking up one of the genome databases, I found out that the deletion identified in both you and Joey affected only a very small part of the UBE3A gene that is responsible for many of the symptoms of Angelman syndrome. I think it can be very difficult (if not impossible) to diagnose Angelman syndrome clinically at Joey's age. Therefore, I think there are 2 possible interpretations for this finding:

1. Joey has Angelman syndrome due essentially to a "mutation" in the maternal copy of the UBE3A gene, but instead of it being the usual point mutation, he has a relatively large deletion (compared to the small deletions and mutations typically seen in UBE3A). [although I don't think this particular deletion inthe UBE3A gene has been reported, so it's difficult to know the significance of it]

2. Joey does not actually have Angelman syndrome and this is an incidental finding in both you and him.

One of the ways one can try to find out a bit more about the significance of this deletion is to test both of your parents (i.e., Joey's maternal grandparents) to see if you had inherited this from either of them. Would that be possible?

Dr. V is a very good geneticist, and it would not be appropriate for me to"by pass" her or to "take over" Joey's investigations in any way, so I think you should follow up with Dr. V, as arranged. However, I would be happy to communicate with her by email if she finds it helpful. We would need to have a molecular diagnosis of Angelman syndrome in Joey before he is eligible for the Natural History study.

I hope this helps,
Dr. T.

So here we are again. We have an appointment to meet with Dr. V on Monday afternoon, so we will of course go over what Dr. T has said. In the meantime, we are going to sit tight, compose our list of questions and hold off on scrambling to book more tests.

I can't even begin to describe what this is like...almost as though we are on the biggest, tallest, fastest roller coaster in the world, and while we are terrified and nauseated, and begging to be let off, it just keeps going and going.

In the meantime, Joey is happily oblivious to all that is going on, for which we are thankful. He continues to try his best at all that we ask of him, and continually makes progress in every area; except, of course, eating! Still the bain of our existence, we are happy that PediaSure was invented and continues to help our little boy gain weight. His next weigh-in is not until May 5th, and we're hopeful that he'll gain at least a half pound by then :)

That's all for now,

Pamela, Jason and Joey

1 comment:

J said...

Pam - wow! Roller coaster doesn't even seem to do justice for what you are going through.

All I can say is thank God for the internet, email and networking. Can you imagine how hard it must have been for parents in your shoes just 10 or 15 years ago? Today, in mere minutes you can have information and contacts at your fingertips that would have taken you weeks to find in the past. {Granted, the internet can also be a scary place when you tread out there on your own - after all, anyone can make a website and put up information. We personally learned our lesson about jumping on too fast.}

No matter what happens in the end, I wish for your family the best possible outcome for Joey. I will check in often to see how everyone is doing. You are very strong and doing an amazing job for your child.

Phyllis - hello and thank you for your kind words. I do have a blog but it is more the day-to-day family stuff. I post a little about PWS related things but I didn't want that to be my only focus. I have 2 older boys so there is a lot of their shenanigans!