After seeing the GI specialist twice and having numerous blood tests, we had to do one more blood test on Friday. This one was so specialized that we had to go to the Scottish Rite Children's hospital. She had to be stuck twice and was very brave. The GI specialist is now sending us to another specialist - a metabolic geneticist doctor. I bet you have never heard of that - that is okay we hadn't either. They are testing for 2 main things: urea cycle disorder and a fatty acid oxidation disorder. They are both genetic disorders. The urea cycle disorder describes Madison's symptoms perfectly. Luckily there is ONE geneticist doctor in the Atlanta region at Emery University. Unfortunately he has a LONG waiting list to get into see him. Our GI specialist ran Madison's case by him first. I am glad that he did, so they knew what types of blood tests to run. Hopefully this will be the last of the labs for awhile. Madison can be brave for them, but sometimes will run down the hall. I don't blame her!
In case you are interested in urea cycle disorder, here is their website:
http://www.nucdf.org/ucd.htm
No comments:
Post a Comment