I’m genuinely scared I’ll die before I even get a diagnosis, I really don’t know where else to go. Posting here is the last thing I can think of. I’ve been seen by 5 neurologists, 2 genetists, a GI, a neumonologist, a cardiologist. No one is giving me answers and I’m terrified.
I’ll try to make it as brief as possible.
My first symptom was sudden shortness of breath. Heart was fine. Slightly raised troponin. A few weeks later, my back and hip muscles started shuddering everytime I leaned down. They shake, it’s like the “tremor” you get when you’re working out and your muscles are fatigued and you can’t do that one last push-up. Very quickly, it spread to all my limbs. Now everytime I lift a leg, or push hard against something, the entire limb shakes. The shortness of breath is still there and now whenever I make even the slightest breathing effort, all my costal muscles and diaphragm shake too and I run out of air immediately. My voice has issues too.
My muscles ripple all the time. Like, from the sole of my feet, my toes, my shoulders, my back, face, eyelids, even sometimes the muscles on my groin, everywhere. It’s like violent vibrations and some are so violent they generate a jerk-like movement. Not like the entire limb just kicks, but very small joint rotations, or moving my shoulder forward or stuff like that.
Neurological test revealed hyperreflexia with pyramidal signs and slight balance issues with spasticity in legs. My muscles (mostly triceps and posterior compartment of the thigh) are painful when I press on them.
Relevant info: I’m very underweight (92lbs/42kg, 5’7/170cm). I have chronic bouts of post-prandial pain and diarrhea since 2020, with intermittent constipation. I eat 2-3 times a day and very small meals to be able to live a “functional” life, otherwise the pain is too much. Back in 2020 they ran many tests and they all turned fine. They never performed a CT and colonoscopy because of the pandemic, and I just got used to living like this. I’m sedentary/no exercise.
Tests:
- Elevated Calprotectin in stool (320ug/mg), positive ASCA IgG and VCA EBV IgG. Vitamin D is low (12).
EKG and echocardiography are normal.
-All auto-antibodies are negative. ESR and CRP are normal. All blood tests normal. One instance of raised CK enzyme (700UI) but 4 other times after that it was normal.
-Spirometry showed restrictive pattern (FVC 81% and FEV1 69%). I only made it half the distance in the 6 minute walk test (480meters). Somnography showed snoring and 4 events of central sleep apnea per hour.
-MRI of brain and entire spine, normal. Slightly enlarged ventricles for my age. Two EMGs (first on all 4 limbs, second only on two limbs) 45 days apart done by two different people, show fibrillations on deltoid muscles.
My doctor mentioned juvenile ALS. It’s the only diagnosis she has talked about, but she doesn’t go further than just mentioning it. I honestly feel scared of dying before I even get a diagnosis. Of course I don’t expect someone here to just throw a diagnosis at me but literally any pointers, ideas or anything would be better than this.