- CASE FILE
I have had decreased mobility, muscle weakness, fatigue, twitching, muscle jerking, I smell smoke for no reason, now lost my voice
ABOUT THIS CASE FILE
I have an RYR1 Myopathy along with Malignant Hyperthermia. This past year I have seen my health deteriorate quickly. I have lost mobility, use a walker or wheelchair. I have been to Rheumotologist, and Neurologist. I have blood work done several times , the only thing that showed consistently was a high CK level. I have had an MRI of my thighs, EMG testing, a muscle biopsy and genetic testing. I have hyperlordosis, and all of my life my joints would slip out of place. It's so frustrating not knowing the progression of what I have going on. My latest things are losing my voice, this has been going on for about 2 weeks now, and muscle jerking. I like to describe it like when you are falling asleep and sometimes you have that "jerk". that happens randomly during the day. I have bitten my tongue and cheek a couple of times from my mouth doing it. But it happens in my arms and legs too. I also smell what I would say is cigarette smoke almost constantly. I do not smoke, am not around smoke. I was told that RYR1 is very rare and not much research has gone in to what path it follows. so I do not know if anything new I experience is from this, or something else going on. I would think that if it was a genetic mutation from birth, new symptoms would not keep popping up. but then again I am not the dr. I do feel crazy at times, like is this really something, or am I making it up? If there is anyone that can help, I would truly appreciate it. As you can imagine it's depressing, frustrating and scary. Losing independence and relying on others is a hard thing. Please if anyone can help, i would love it. I have been watching the show and the team of doctors are amazing. I'm just tired of feeling this way.