TheSwordandTheSpoon
"So it’s been a hot minute. I saw another neuromuscular Dr in Arizona. She was AMAZING. This was two weeks ago. She’s 95% sure this was never seeonegative mg. She thinks it’s genetic. She spent over an hour with me and by the end of it she had five genetic things she thinks it could be. And if it doesn’t pop on those, she said there’s 232 other tests she can run and a full znome work up. My list is FSHD, Pompe disease, myatonic muscular dystrophy, confenital myastic syndrom. The last two mimic mg but it’s not mg. She thinks I fall into Pompe disease more than the others. She took one look at my back and my shoulders and she knew. I left in tears of relief. I’ve been begging for six years for genetic testing. She got mad when I told her Chicago wouldn’t run it. I have an appointment tomorrow for my lab draw. I could have answers by the end of the month!! I am SO excited. She said if it’s genetic, that’s why meds don’t work. It’s why the IVIG never fully worked. It explains SOO much. I just want a name at this point. I want a proper name. She said there may not be treatments for some of these. And I can’t even get angry about it anymore. I just need some kind of relief just from knowing what it is. I’m sick of fighting for a diagnosis I’ll never get.i want to feel better. I had to file for disability. It’s gotten bad. And I can’t do it by myself anymore. I’m still fighting for a lupus diagnosis too, and I had to fire my rehumo that I thought was my saving grace but she’s not. I found another thankfully. Just. I am SO tired. I want to get back to 50%. Just 50. I’m at 5 right now and pushing on e. I am a big bag of nerves waiting for these results. I am also tired of having to make really big medical decisions that are life changing. This is now the second biggest medical draw I’ve ever had. I just need something to pop. Fingers and toes crossed for me. I need answers so I can get the right medicine. "