Monday, February 28, 2011

Stories.. Bad internet...

Feeling really bothered now, as if the freakish movements weren't enough. Just got a hold of some patient stories of people with mito disorders that were missed on frozen biopsy and picked up on fresh biopsy. I know my biopsy was frozen because I ran out of insurance and they had to freeze the sample and wait until I had medicaid to do the testing, several months later. I just don't know what to think. Kimber has an appointment with a muscle doctor at Children's at the end of March. At first she was going to refer her to a mitochondrial doctor out of Children's, but then she got her case from the geneticist and read it and wanted to see her, so I am praying that maybe she has an idea that no one has thought of or tested for. Well, truly that could be anything. The more I study up, the more I realize that beyond the muscle biopsy and urine assays, no one has really tested for anything. It's all been clinical assumptions. But there are so many genetic tests that could help! Soon, like in the next year or 2 there is supposed to be a generic genetic test to look for most types of mitochondrial problems in the DNA. That is simply amazing to me.
I know Kimber's geneticist said there is no reason to take a stab in the dark with DNA testing, but it seems right now that a stab in the dark is better than nothing. Maybe that's because my semi-returning worsened symptoms are freaking me out a bit, but I just don't get it. So, my brain will rack over it all night long: Would a fresh biopsy have shown more than the frozen one did?

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