[Michael]

Good Evening,

I am reaching out because I am beyond losing my mind trying to reach a diagnosis and was wondering if anyone knows some helpful questions or tests to ask doctors that might help get to a diagnosis.  I believe I have respiratory onset ALS.

A brief history:

I am a 35 year old male, in great physical shape and health until this past May when I was jogging, I felt short of breath.  I had a mild fever so I immediately thought “oh no… COVID”.  Took two COVID tests, both negative.  I went to a pulmonologist and did the spirometry test and it was abnormal, so they treated me for asthma, well asthma inhalers didn’t help… took another spirometry test with methocholine to confirm, no asthma, as well as an allergy panel, and no significant allergies either.

Meanwhile I have noticed the toes of my shoes sometimes scrape the ground while walking, as well as muscle loss/deformity, like my biceps look deformed with a dent in them, my forearms look frail, and most significantly, my legs are losing muscle as well.  And 24/7 twitching all over, chin, arms, legs (mostly in calves). (Ps, has anyone had any painful muscle atrophy during the course of their disease?)  I know they say pain isn’t usually associated with ALS, but I definitely notice painful muscles/joints, like aching.  Also, all my muscles have begun to feel like jello and lost tone, especially in my neck/back. Painful neck and back also.  I saw a general neurologist who has now referred me to a neuromuscular specialist.

While I wait for that appointment, I was wondering if anyone has any suggestions/tips on the right questions to ask to address respiratory onset ALS.  I have since been on anti anxiety meds to help, and it has helped calm me, but I still can’t get a full breath, even at rest.  Anytime I mentioned this symptom to the neurologist, I was kind of blown off saying they aren’t a pulmonologist… even when I had an EMG/nerve conduction study (both Normal), the doctors really didn’t address my concern.

Any help with how a diagnosis was reached for people with respiratory onset ALS would be extremely helpful so I don’t go to this appointment that I have been waiting so long and just blow it.  Thank you all so much.