Muscle Biopsy?

[michele0209]

Hello,

So I have a POTS diagnosis, but I think it's secondary to muscle weakness. I feel my heartbeat increase when I'm standing because my body is working extra hard to hold me up. I've been tested for everything, except my neuromuscular doctor thinks it's possible I have mitochondrial disease. She ordered a fresh muscle biopsy but said there's up to a 50% chance there could be a false negative. Another doctor said he's biopsied people with my symptoms before and regretted it because it didn't show anything helpful. I have no organ or cognitive involvement. Anyone have any experience in this situation? If mitochondrial disease had a good treatment or cure, I would definitely pursue testing. But the treatment offered is something I can try on my own anyways...vitamins, moderate exercise, rest. I am a 30 year old woman, about to get married and would like children. In my case I feel genetic testing would be more worthwhile, but my doctor said it's not covered by insurance and could cost tens of thousands.

[DizzyGirls]

There is mitochondrial testing that isn't as expensive as whole exome sequencing.  We did opt for the whole exome sequencing, but if you are looking for mito only, I would go that route.  Just my personal opinion.  Also, my daughter's neurologist didn't want to do the muscle biopsy.  Said it might be too much for their bodies at the time.