Friday, November 2, 2007
Fish anyone??!!
So Will has been on this Carnitine supplement the last month or so to help him break down protein (it is a precautionary measure in case he does indeed have Glutaric Acidemia Type-1). There is a long story behind it all, here is the brief version. After he was born he had a blood test and tested high in his protein levels. They sent us down to meet with a geneticist at Childrens Hospital in San Diego. They did some more tests including a skin biopsy where they took 2 hole punches out of his skin and then grow cells from them and test the cells for this disease they thought he may have. It took six months to finally get the results which turned out abnormal but of course they weren't 100% sure he did or didn't have it. So now they are doing a sequence mutation of his gene to find out if he does indeed have GA1. They know he is definitely a carrier at least. We should learn more in the next few weeks. In the meantime they want him to take this supplement to help in the case that his body is not able to properly break down protein. The side effect is that the poor boy smells like fish all the time. Actually his bodily excretions (anything in the diaper) just stinks like fish! Mat and I have to do rock, paper, scissors to see who'll change him at night. It also makes him poop all the time, it has been a fun experience! Here's to hoping he doesn't have to continue on this forever, can you imagine the ridicule in the elementary school restroom?
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6 comments:
Oh that poor baby! You would think any medication that makes you smell bad and go #2 more often must make you feel pretty bad as well. I really hope the doctors get it all sorted out. In the meantime you and Mat have my deepest sympathy with the diaper changing...nice diplomatic way of take turns though.
sad... Poor will! Poor you guys too for having to change him. Good luck with that :)
Poor little guy... I hope everything is okay. So will this continue, what will happen if he does have it? Does he take some medication and have a special diet...
I really hope he is alright.
Those diapers sound like not much fun for you or him.
Aww, the poor guy. That's funny that the diapers are that bad.
I hope that things turn out for the best.
my nephew was told he had the same thing, but now he is a normal 19 month old. He was on special formula as an infant, but has never had to be on a special diet since turning one. I hope the outcome is the same for Will!
In the meantime...maybe invest in a mask!
Lins,
Hey, this is Nathan Sellers... I saw you started a blog through Ash's site. Sorry to hear about the struggles your son is having. Hope everything works out ok.
I am trying to get Dave to start a blog... just needs to fix his camera, which may take forever. You can check ours out at nssellers.blogspot.com
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