Friday, May 8, 2009

"22q" kids

Today is the first of many trips to the specialists. We are going to see Asher's GI doctor to have his G-tube looked at amid other things. So far we have follow up appointments with all of the doctors who treated Asher at Arnold Palmer.... 8 in all over the next month. I'm a little excited to speak with them all because they may hold the key to understanding a little more about Asher's 22q11.2 deletion syndrome. It is very rare...I found a statistic stating that "complete DiGeorge Syndrome" (aka 22q11.2 syndrome) affects something like 5-10 people a year (I could have misunderstood what I read, but that is the gist). My little guy is 1 in a million alright .... and no one has much information regarding him because of that. I did find this great mom's site which links parents together who have "22q" kids....that way they can learn from one another's challenges and also help create a network of specialists and procedures available. I found out that they actually have a woman at Duke University who has successfully transplanted Thymus gland tissue into "22q" kids and gave them a second chance at having a functioning immune system. I have to wait until I speak with his endocrinologist and find out exactly how bad his immune system is and see if he would even be a candidate. Some kids who are missing a Thymus still seem to have some immunity, while others have to be isolated like bubble kids to keep them from getting sick. Aparently, they have no way of fighting off infections and they just linger in their little bodies, sometimes sending them to the emergency room for something that you and I would just be blowing our nose over.

It's a lot of information to have to sort through, but I'm so greatful for the answers. Even if he isn't right for their procedure, I know a God in heaven who is referred to as the Great Physician....and Asher is in His capable hands. I WILL NOT FEAR the future!

Well, back to bed it is for me. Matt took Asher tonight and gave me more sleepy hours and I don't want to waste them.


1 comment:

Tess said...

If he ends up with a severe T-Cell deficiency, another possible treatment (if a thymus gland transplant isn't possible) is a bone marrow transplant. There has never been a large study on this (since there simply aren't a lot of DiGeorge kids out there!), but the documented cases that I've encountered showed results comparable with a thymus transplant. Here's one of the relevant case studies: