our routine was similar. only the muscle biopsy brought more questions instead of answers. mitochondria were normal, sarcoplasmic lysosomes not. i have mixed feelings about the muscle bx. the recovery was very very difficult. she had to use a walker for a few weeks. probably just mama guilt. if i had it to do over again, i would probably do the same thing.
the current target of investigation is peroxisomes work-up. i don't think i spelled that right.
we are going back to neurology sometime this week...i'm sure we'll have more neuromuscular testing.
so this is my two cents:
think about the what ifs on these three extremes before deciding to go further with the search--
what if it was the missing piece that made everything fit? how might it change your lives?
what if it shows nothing? how will you feel if after all that, you have to accept "idiopathic" for a time?
and, what if it shows something, but not quite what they thought, and more testing is encouraged? how are you going to deal with that news.
with those being three possible outcomes--now consider what yes, no, and later mean to each one.
i often think about these on the drive and in the waiting room right before appointments.
good luck :)
Originally Posted by MotherWhimsey
My son has had many and was diagnosed with Mitochondrial Disease. I'll give you a basic run down of how it went once we went to the neuromuscular clinic instead of just regular neurology.
They did the physical exam first and found abnormalities so they drew a CK (checks for some neuromuscular diseases like duchenne muscular dystrophy) and some other labs and scheduled an EMG.
He had the EMG (which was a short but miserable test). That tests the nerve conductivity to see if there is an issue with the nerves instead of the actual muscle tissue. Then they do a "listening" portion of the test and try to hear any abnormalities in the muscle. In my son's case, that portion was abnormal so they knew that if they did a biopsy they could probably see why. That was down the road though, but at that point they had confirmed that he had something neuromuscular.
Once they did that they tested for a ton of things like SMA and anything else that his pattern of presentation fit. Those all came back normal. After basically testing for the most common and most likely diseases they still hadn't found anything so we moved on to a muscle biopsy. He had that done around 18 months and that came back positive for Mito.
If you have any specific questions I'm more than happy to answer them if I can.