Sunday, November 02, 2008

Glycogen Storage Disease

UPDATE: After more tests and Jhet's liver biopsy results we found out that Jhet has GSD type 9 not 1a.
Most of you know that Jhet was admitted to UNC Chidlren's hospital a week and a half ago. At his 9 mos check up the Dr. had some concerns about his growth. One thing led to another and here we Jhet was diagnosed with Glycogen Storage Disease type 1 A.In order for Jhet to have this disease Shane and I have to be carries of this. Usually it is very unlikely that two carrries marry. But that's what happened with us. Setting our children up for a 1 in 4 chance (25%) of getting this disease. Obviously Mycah and Trin came out ok, but Jhet fell into that 25% chance. It's a rare disease with only about 1 baby a year in NC being born with this disease.
So, in a nutshell, Jhet is missing an enzyme that helps break down certain types of surgars. It has caused him to have an enlarged liver and slowed his growth. People who have this disease have to eat frequent meals to help them keep their energy and stay away from certain foods. Foods containing galactose, fructose, and certain other sugars have to be avoided since their livers can not use these surgars. So Jhet can have no fruit, dairy, or sweets that contain these surgars. In addition we have to keep an eye on Jhet's bloodsugar levels and make sure they don't drop to low. Jhet had to have a feeding tube placed in his stomach and a liver biopsy done so we can make sure of the type of GSD he has. Jhet will need the feeding tube for around 1-2 years or so. He only needs to use it at night. He has to have constant feeding to ensure his bloodsugar levels stay at a healthy level. Prior to going to the hospital his level over night dropped to 38... the Dr. said if ours had dropped that low we would be unconcious. Anyways there is a lot more to it, but that's all I can explain for now. But with the right diet and frequent meals, Jhet should live and grow normally :)

The day after his surgery

3 thoughts...:

creative gal said...

I am praying for your family!! Please let me know if there is anything I can do!!

Pottymomma said...

I just clicked over to your blog when you commented on my post. I'm so sorry youguys are having such struggles. I have been so behind in my blog reading in the past year or so or I would have commented sooner. How are things going now?

Jennifer said...

he is doing good. we found out that he has type 9 versus type 1 like we originally thought. 9 is better to have than 1. it's stressful at times but he's happy and we are all use to his "lifestyle" now.