20yo guy dying from a mysterious illness. Any support is appreciated.

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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.


  • 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.

1 like, 2 replies

2 Replies

  • Edited

    Hi blaine47720, you are dealing with a lot at the moment and even expert physicians seems to have a difficult time finding out what exactly is going on.

    In my opinion, you would benefit from getting in touch with a charity such as thebraincharity located in Liverpool. A charity organisation might be able to offer practical help regarding mobility and emotional support in the form of counselling. From my own experience, I know how draining it can be to live with chronic pain. Do you have any form of chronic pain therapy?

    Here are some things that have helped me:

    1. If you are in the UK, I recommend getting access to your full online medical record. My local practice uses the airmid app. It allows patients to add data to the medical record (e.g. weight, blood pressure, ...) .
    2. Keep a folder with all your test results, appointment letters, and letters from your doctors.
    3. My neurologist asked if I would like to receive a copy of the letters sent to the GP. Your doctors might be willing to do the same.
    4. Keep a diary of your symptoms, and your intake of medication, vitamins, perhaps even food as you seem to be dealing with an inflammatory bowel disorder and malnutrition. Since you mentioned pain after eating, could you try to add high energy liquid meals to your diet? You could discuss this with your GP and ask for a prescription.
    5. On a day to day basis, try to find out what is helping you, in terms of food, medication, amount of gentle activity, stretches, massage. Even small incremental improvements might be worth pursuing.
  • Edited

    dan73 gave great advice , sometimes we have to be our own self advocate to push for results .

    no one here is a doctor. please continue with a specialist until a diagnosis and prognosis is diagnosed.

    vit- D important and iron was low, take what was recommended by your doctor. they can effect the nervous system if low.

    stay with the doctors until they give you a diagnosis. I know this is a very difficult time . the unknown is tricky. it could be something simple. not always the worst thing.

    i suffered for ten years with similar pain issues i was tested for a heart attack all the blood tests nothing showed up . it was gallstone attacks. and all the doctors missed it because i was to young to have gallstones i was 24 years old. and similar issue happened a few years later when i had osteoarthritis in my hip. again i was to young , doctors did not catch it again and I was mystified and seriously suffering when all along all i needed was hip joint replacement.

    the worrying is annoying . i totally get it ...it's the not knowing when doctors have no answers that is so frustrating.

    please keep positive and never give up until you get answers .

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