Background (including two possible red herrings):

40 yo white male. Healthy and fit overall. No existing issues or diagnoses prior to this except sleep apnea. I religiously use my cpap every night since I like breathing better with it. Regularly worked out until the Oct 19 injury below, and then getting sick. No stressful extraordinary life situations that would be causing anxiety, etc other than the below issue itself.

October 2019 - injured L4/L5 doing yard work. Had to go to ER and was given toradol injection and sent home with a plan for physical therapy. Completed 12 weeks of therapy, and at this point I don’t really have pain from that injury anymore.

November 2019 - noticed a globus sensation in throat just above the sternum in that “pocket”, when swallowing. Waxes and wanes but at times was infuriating and worrisome. Saw GI and was scoped. He noted irritation and potential eosinophilic esophagitis. The biopsy came back without much eosinophil though. GI says still clinically presents as EoE and recommended no gluten, dairy, soy or egg for a while since that corrects EoE for most folks. Lately (supported by allergy testing) I have reintroduced egg and dairy but am avoiding grains. The globus still present today and waxes and wanes with not a ton of improvement overall since November.

(MAIN ISSUE)
January 2020 - first two weeks of Jan 2020 I had severe fatigue, headaches, tinnitus ripping in both ears, dizziness and nausea. Never any fever. The type of fatigue where I’d fall asleep at work talking to my boss, or fall asleep on the floor with my daughter playing in the evening, or sleep in until 10-12 on a weekend. Saturday January 18 I remember waking up at 8 am and realizing I wasn’t in any shape to get up. I fell back to sleep and then what is ruining my life now happened at noon. I woke at noon to feel a tingle and vibration sensation start at my neck and travel parallel down both arms and out my fingers. This took about 5 seconds and stopped as I woke up more and sat up. It really freaked me out and I texted my wife that the strangest thing happened.

Chalked it up to just feeling sick still and got on with the day. Well, after this, for weeks every time I would wake up (nap, normal morning, couch, bed) I would have the same vibrations shoot down my arms and out my fingers. It was scary but I almost got used to it and expected it.

Two weeks later, things progressed and I noticed this same feeling happen AS I was falling asleep. Right as my brain shifted to less conscious, the vibration down the arms happened. Then again when I woke up, like before.

Shortly after, things progressed and I began to wake up in the night with the vibration down the arms. Sometimes multiple times.

The next progression was waking up in the night to the vibrations now traveling down both legs and out my toes. I’ll never forget that first time it did that. Very scary. In all cases, as it wakes me up and I become more alert, the vibrations stopped.

Next progression was waking up to the back of my head, neck and throat/chest vibrating. I was so scared and woke my wife up and was hollering about it. At that point my voice was completely warbling and it was confirmation my vocal cords were tremoring at that same rapid high frequency.

Sadly, things have now progressed even further on two accounts. First, now my legs and trunk vibrate and internal tremor (never visibly shake, but it can be felt by others squeezing me when it happens) EVERY time I simply lay down. I don’t even have to start to fall sleep. Simply laying down or even often sitting, I’ll feel the internal rapid tremor in my legs and left arm and sometimes lips, jaw and tongue. Second, I now have cramping in my calves and weakness in my thighs during the day, along with nerve discomfort (sort of aching weakness) in my ankles, and cold feet with toes occasionally going numb. In addition, my grip is weak in both hands when I wake in the night and in the morning. As I get up and going, grip strength is fine again.

Each night is a torture from hell. I am up many hours each night upset and in discomfort. I hate even going to bed knowing what is coming. Now the days are scary and depressing too, with the cramps and weakness. Most of the time, I do not have any of the crazy fatigue, headaches, or nausea that I did in January leading up to this. The one thing that remains constant is the tinnitus. I’d classify it as mild/moderate but always there. The muscles in my forearm, thighs and calves will fire (single jolt/spasm) in the day, as well. The other thing I’ve noticed is when I wake up multiple times in the night, I very often have part of an arm, hand or fingers completely asleep. Sometimes they feel like a rubber chicken. They normalize after I wake up and move around. I’d only occasionally have an asleep limb (like any normal person) prior to this. Now something is asleep basically nightly.

Doctors/tests to date:

Primary care - ordered CBC, metabolic, ANA/auto immune and all came back fine. He ordered CT of neck, given a sore and swollen node on my neck during the start of this when I felt so fatigued and ill. CT noted nothing egregious, but one 1.5cm node on the right neck (the one that was sore). He doesn’t have any idea.

Endocrinologist - ordered vitamin levels (B, D), chromogranin A, and thyroid bloodwork. Ultrasound of thyroid. All came back fine. She doesn’t have any idea. Ultrasound did note one 1.5cm node in right neck (same as neck CT did)

Immunologist - he has no idea.

Rheumatologist - I asked about CIPD or lupus and he said no. Ordered bloodwork for iron (waiting on results). He has no idea.

Neurologist - initially suspected partial seizures given the massive “out of body” fatigue I had in January, coupled with the inner tremors. We tried Aptiom for a few days but things got worse with the cramping and tremors so we stopped and switched to Cymbalta, thinking it might be a neuropathy pain (even though I mentioned the tremoring was the root issue, in my opinion). The Cymbalta was horrible for me and I fought through taking it for a week and saw no improvement until I was switched to Gabapentin (see below).

He has ordered: brain MRI w and w/o contrast (looking for MS or tumor), short term EEG (looking for seizure), and an EMG (looking for ALS and Myasthenia Gravis). All came back fine. He then ordered a 48 hour home EEG where I pressed a button when I felt events and wrote about them. In the two days, I ended up with NINE pages of events. And that was with just giving up at night since I was so tired and couldn’t keep writing in the dark as I kept being awakened by vibration. I do not have the results back from this test yet.

At this point, the neuro mentioned maybe doing a spinal MRI and a sleep test, but he admits he is confused and out of ideas at this point. He has not mentioned a muscle biopsy or lumbar puncture.

Because he is out of ideas and he can tell how miserable I am, he supported me going to the ER when I couldn’t take it any longer. I went last week to Jefferson in philly (supposedly amongst the top neuro facilities in the country) and saw the on call neuro. He first said stop the Cymbalta since it wasn’t helping me and made me feel awful and start Gabapentin. He then said he suspects small fiber neuropathy. I asked if that would explain the laying down inner tremors and he said maybe but it didn’t seem convincing. I also have only ever had one numb toe on and off, and cold feet from time to time. Never any pain or pins and needles in the toes and fingers. This doctor suggested we do a skin punch biopsy to dig into the small fiber diagnosis more. I’m all for it but in my heart I don’t believe that’s the core issue.

In standard neurological exams, I have passed every test, with the exception of failing the cold feel (cold piece of metal) on both feet and ankles, in the ER. I admitted that, at times since three weeks ago, my feet go very cold.

I am on day 5 of gabapentin (titrating from 300mg up to 909mg daily) but no miraculous results.

My poor wife is up hours with my every night while I am in misery, and it is taking a real toll on our lives as we try to keep life moving with our child, our jobs, etc. We are basically in tears as each successive doctor has no idea and admits they can’t help me.

Hoping some folks on here might have some ideas or guidance as I keep working with neuros and follow up with the other specialists and my primary.

Thank you.