Angelman Syndrome.
Two days ago that phrase wouldn't have meant a thing to me. I had never heard of it before. Wasn't even on my radar. No idea until I got a text from Erin Tuesday evening. Hendrick's neurologist had called her with his genetic testing results. She told Erin "Hendrick's genetic difference is a UBE3A deletion on chromosome 15. Which causes a syndrome called Angelman Syndrome (AS)." If you are like the rest of us and have no clue what that means, please visit this website for an explanation:
http://www.angelman.org/
The bottom line, its not good news. There is the chance now that he may never talk or walk. We all had a lot of hopes that once his seizure meds got regulated that he would get caught up to the other kids his age. He had just started rolling over within the last couple weeks and things seemed to be moving in the right direction finally. That one phone call just ripped the rug out from under us.
Erin, Andy and Hendrick have a huge support group. They have friends and family who love them to pieces and would do anything in the world for them. They will all be able to handle this. I just wish that they didn't have to.
Erin is my oldest friend and I have known Andy since middle school. I love Hendrick like he is family and this just breaks my heart. Not because he won't be "normal". None of us are normal, being normal is totally overrated. But because he may not have the opportunity to live his life to the fullest. I don't want him to have to miss out on things. Erin shared her fears with me yesterday. As a mother and a friend.... I just can't wrap my head around what she must be feeling. Its so scary.
I told her today, Hendrick is still the same little boy he was two days ago. We loved him then and we love him now. Nothing has changed. We just have to readjust our plans moving forward. We just have to look at the little goals and obstacles so that its less overwhelming.
Its not the path they chose for their lives, but its the path they have been given. I've always supported them and I will continue to do so. I will work hard to make sure they get to enjoy life as much as the rest of us do. I will work to raise awareness and hopefully someday a cure for AS.
We are blessed to have Hendrick in our lives. I know without a doubt that he will teach us lessons we would not know otherwise. We will all be better people because of him.
