Thank you both but that route has already been tried. The part of this that I should have mentioned but didn’t is that this situation probably began much longer ago.
* Began losing muscle in legs in 1998. No loss of strength or movement but very gradual muscle loss beginning in upper thighs. Started having twitches in calves a year or 2 later. Saw PCP and neurologist who did quick exam, EMG, and told me there was no way I had anything nefarious. I believed them and moved on.
* in 2001, I had the flu at home. I tend to vomit rather aggressively and noticed afterwards that my left foot and hand, felt off. I was preparing a bottle for my son and dropped it. The dexterity in both foot and hand felt different, but it never became a problem and I returned to normal activities. It’s worth noting that I was 30 years old, heavily muscled (255 pounds) and very active, including weight lifting and competitive softball.
* For the next 20 years, the very gradual muscle loss in legs continued, requiring the need to purchase new pants every few years. I was never sick, often going years in a row of not taking a sick day at work, and remained active. I would see my neuro every few years and he did a couple MRIs and EMGs along the way. The only finding was a tiny narrow syrinx from T2 to T9 that has never changed. Family and friends noticed the difference; my 2 sons who are professional and college athletes would constantly kid me about missing “leg day” in the gym. Legs are very thin now.
* in 2018, noticed that some of the symptoms, including twitches, brief contractions, and muscle started to move up my body. Body weight started coming down, shirts fit different, but still active and strong, especially upper body. Legs would get a little spastic if I stood for long periods of time and left foot felt unstable when bending over to tie my shoes. Saw a couple different neurologists, including MG and Tufts, both of which said, you’re a little out of proportion (big upper body and thin legs) and we see the twitches, but it’s probably BFS.
* in 2021, I felt a weird sensation across my trapezius muscles, almost like the day after a mild sunburn. Skin sensation felt different. Continued to be active and never sick. Started noticing some tremors/shakiness in left arm, especially when leaning against things, but didn’t give it much thought. At this time, on zero medication, perfect BP, and no other issues.
* in mid-2022, started taking some supplements (Magnesium and Vitamin D). Took a weekly Vitamin D daily (by mistake) for about 6 months and felt awful - heart palpitations, high BP, and no appetite. Once we figured out what was going on in early 2023, stopped taking the Vitamin D but BP never really corrected. It took 2 months for Vitamin D levels to return to normal because it’s fat soluble. Also noticed that heart rate would stay elevated for a while after doing cardio. Had an Echo Stress and wore a monitor - both of which showed heart was fine. A couple doctors downplayed Vitamin D toxicity but a couple others said it’s no joke.
* had laminectomy surgery on lower back in September 2022. Made quick recovery.
* in January 2024, started waking up at night with palpitations that wouldn’t stop for hours. Also felt like I needed to clear my throat often, minor hoarseness, limb jerking when going to sleep, gag reflex was off the charts, and constantly burping. A week or 2 later, shortness of breath started. This all persisted for a month. I could no longer sleep laying down and was up most of the night. Doctor put me on a beta blocker - palpitations stopped and shortness of breath went away. Still couldn’t sleep. Swallowing because weird - sometimes okay but always feeling like I needed to clear my throat. Developed jaw and neck soreness in February. Tongue felt thick occasionally. Tip of it has a weird sensation here and there. Speech okay but not perfect. No one has mentioned any change to it. Saw local neuro who I had seen in the past and knew well. He was concerned when I explained the symptoms. He did an exam, EMG, and ordered thoracic and neck MRI - all clean. Repeated Stress Echo - clean as well. Saw director at B&W Neuroscience who reviewed history, and did exam. He noted that left calf was smaller than right one but physical exam was excellent and said he has no idea what’s happening. Discussed long-term muscle loss and he said he doesn’t believe it or see it because I have more than “adequate” muscle mass for my age.
* in March 2024, saw ENT who detected paralyzed vocal cord despite mostly normal speech. Saw him 30 days later and it had resolved. In the meantime, he ordered brain and neck MRI and chest CT - all clean. Very stressful time - lost 10 pounds. Feeing of excess saliva in mouth, especially at corners of lips.
* saw cardiologist specialist at Tufts at end of March 2024, reviewed records and Stress Echo - said heart is great. Told me to go to JHU or Mayo because something is very wrong. He also called my home that same night, and told my wife (without my knowledge) that there’s a good chance I have ALS. This rocked my wife and children to the core.
* in May 2024, felt a bit better. Started working out again. Sleep improved. Swallowing, jaw, and tongue slightly better but still off. No problem chewing or getting food down. Felt nearly normal at times - good energy, focus at work, and able to put stuff out of my mind for a few weeks.
* in July 2024, feeling of shortness of breath returned and would come and go. Continued to workout but it became more persistent. Overall, energy better and appetite better though. EMG was repeated locally with negative results. Returned to B&W in August and explained shortness of breath. Asked if a form of JALS was possible because of muscle loss/twitches in legs in late 20s, which has moved up my body as I’ve aged - he said, “No, because you weren’t losing muscle.” I reiterated that I was and he shook his head. He said that he couldn’t explain shortness of breath, swallowing irregularities, jaw discomfort, or stretch marks near corners of my mouth. Showed him my wedding ring which now falls off my finger. Told him left forearm (same one as before) feels awkward and asked about genetic testing for JALS and he declined. Showed him pictures from 15, 10, and 5 years ago and he said “We all lose muscle as we age, even those who lift weights.”
* in August 2024, I was referred to gastroenterologist who ordered a Barium Swallow Test, which revealed delayed emptying of esophagus at primary and secondary levels and tiny hiatal hernia. He wants to do more testing. In the meantime, shortness of breath has worsened and weight loss continues. I have no mobility issues - can walk, run, sprint, and still strong.
That’s my story. Sorry it’s so long. There’s a lot to unpack. Praying for something to happen.
