Thursday, February 21, 2008

Genetic Testing Results are In

It is with a very heavy heart that I write this post tonight. We met with the Geneticist this evening and received the results of Joey’s latest testing. Joey has a small deletion on his 15th chromosome and as a result has been diagnosed with Angelman Syndrome.

Both Jason and I were tested as well and it was discovered that this unfortunate alteration to Joey’s DNA comes from me, which in turn was passed down from my father. How this is so, and how it is that I also have this faulty DNA but am not affected like Joey is very confusing and requires many diagrams to explain properly but suffice it to say that it is fact. I have a 50% chance of passing this on the future children.

So after almost 2 years of endless tests and investigations we finally have an answer. The label of Cerebral Palsy no longer applies. In many ways this is a relief…many of the painful and invasive investigative tests that were planned for the spring are no longer necessary, we are so happy to avoid putting Joey through this. There is no longer an “unknown”, and we will not be spending endless hours trying to investigate the causes of Joey’s disabilities. We now know what impact this would have on future children. This is all very good news.

However, the sad part is that a little bit of our hope has been taken away. The hope that one day Joey would just outgrow all of his difficulties and catch up to his peers is not realistic anymore, and we will have to work towards accepting this. With a confirmed diagnosis Jason and I can finally begin to move forward through all of the stages of acceptance that we have not experienced yet, while we waited in this limbo of unanswered questions.

Now we start a whole new chapter of learning as much as we can about Angelman Syndrome. Luckily it isn’t as rare as some other genetic disorders so there is lots of information out there, as well as organizations that will hopefully lead to meeting other parents and children that we can learn from. Here are links to 2 websites with more information about Angelman Syndrome if you’re interested:

http://www.angelman.org/angel/


http://asclepius.com/angel/asfinfo.html

There are a lot of characteristics about this syndrome that don’t describe Joey at all, which is a bit puzzling to us and to the Doctor. When I’m feeling a bit more like typing I’ll post some more details as they specifically relate to Joey.

As I am often reminded, Joey is still Joey. He’s the same kid as he was when he woke up undiagnosed this morning, and he’ll be the same sweet, happy and charming little boy tomorrow too. On the way home from the hospital tonight Jason said to me “you know, if Joey was going to be diagnosed with a syndrome how appropriate that it’s got the word “angel” in the name”.

How right he is.

3 comments:

Sarah said...

Oh sweetie. I'm so sorry. I'm in tears right now. I know this isn't what you expected at all, but I think you just need time to adjust to it all. We had the same shock with Avery's diagnosis--it wasn't what we expected AT ALL and were just devistated. But you will get through this.

And like you said, Joey is still the same Joey you've loved all this time. A diagnosis/label will NEVER change that. But it does give you a more specific focus and will hopefully help you give him the help he needs and the answers he'll want someday.

I also think you're lucky that he was diagnosed something that has a celebrity connection (Colin Farrell's son has Angelman Syndrome) because it just brings more awareness to the issue--and hopefully that helps with funding and research.

Everything will be ok. You've already been so strong through Joey's life; I know you'll have no trouble doing everything you can to continue helping Joey through this. He's so lucky to have a mom like you!

Jason Pallen said...

Lori and I are deeply moved by this news. We know the whole family has been strong to this point and will continue to show this strength.

We will be her for you, Jason and Joey.

Jason

Mommy said...

(((HUGS))) You guys are in my prayers!

Nia (makinroom4baby)