Originally Posted by Kodama
a couple of "stupid" questions.
Can the blood tests come back within normal limits or like a fraction of a point below or above normal and there still be something wrong metabolically?
I live an hour away from Atlanta. DD's neurologist is in Atlanta. So who exactly in Atlanta are you talking about?
Who would do the muscle biopsy if it came to that? Would a biopsy be appropriate if all the other tests come back normal or slightly elevated? Can tripleptal elevate levels?
What are the risks of the biopsy?
Yes, blood tests can come back normal and the child could still have a metabolic/mitochondrial disorder.
Dr. Schoffner in Atlanta is very good. There may be someone else but this is who I've been referred to.
As far as the muscle biospy it depends on fresh or frozen. I think sbgrace said only Atlanta, Boston, and Cleveland use fresh. You'd have to research the difference, I don't know much about that.
There are a lot of tests that can be run before doing a muscle biopsy. Do you mind me asking what results were slightly elevated and what your child's symptoms are? That would help in determining the possibility of something metabolic.
Risks of the biopsy are the same as risks for anything under general anethesia and then risk of infection, things like that. Again, I haven't looked into this much, although my son will be having this done so I need to!