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Wednesday, May 19, 2010
Today, we took Stryder to get a genetic test. He did so good and surprised us on how well he did. He did get upset a couple of times but he loved the nurse- she played with him and he knew she understood his needs. The DR said that he had never seen a case like his. Stryder is so very bright, shows some social concerns but his speech patterns are very different than any he had ever seen before. He is very interested in studying his chromosomes.

One other test he is doing is for Maple syrup urine disease. I had concerns for this only because his urine is very syruppy but also thought that without treatment it can kill and Stryder is still alive, so it can't be that. I have never looked into it, except the other day it was so strong that I looked again, only to see the not so good news on it and decided to just wait.

When the DR told us the signs of it, he was concerned because Stryder does fall into the condition very well and it makes perfect sense. The disease can be treated, which is good, so I am excited for this news. It will mean a big change with his diet, but we can deal with that, it's the other things we don't want to have to deal with.

We will get the results for the amino acid tests in two weeks and the gene tests in about a month. But in the mean time, we have one more appointment at the Childrens hospital, but today I am very hopeful.

MSUD is a potentially deadly disorder that affects the way the body breaks down three amino acids, leucine, isoleucine, and valine. When they're not being used to build a protein, these three amino acids can be either be recycled or broken down and used for energy. They are normally broken down by six proteins that act as a team and form a complex called BCKD (branched-chain alpha-ketoacid dehydrogenase).

People with MSUD have a mutation that results in a deficiency for one of the 6 proteins that make up this complex. Therefore, they can't break down leucine, isoleucine, and valine. They end up with dangerously high levels of these amino acids in their blood, causing the rapid degeneration of brain cells and death if left untreated.

1 comments:

kim.mom said...

So glad to hear that at least you are ruling some things out. Sounds like you have a very caring concerned doctor. Please keep us posted and we are praying for all of you!

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