Is it Myotonic Dystrophy or MG

Thank you Chelley for your words of encouragement. I forget every now and then that I deserve to be seen and heard; your words gave me a kick in the bootie to keep at it. I'm heading to UW in Seattle to see a neurologist, et al, about dysautonomia testing, I'll talk to her/him/they about it. Have you ever heard of someone making an office appt with an MG specialist? Unless my muscle weakness comes back, I'm not passing any EMG or nerve conduction tests, instead, my time would be better spent telling my story; the story of a flare that sent me looking for answers. Telling it through my mouth that looks and works differently than it used to, that has difficulty with enunciation and sometimes can't smile. It's all documented, beginning with chronicling a day early in the flare. I began adding daily notes to an app I had about my experiences with symptoms and how I felt when I thought I was having a myasthenia crisis. How can you diagnose someone without this important data?

Virginia (lost patient)

I'm so sorry, and can I ever relate, however my time frame is much more truncated than yours. I found myself in a flare with extreme muscle weakness, shortness of breath, hot flashes/sweating, dizziness, nausea/abdominal pain) bloating and a host of other weird symptoms. After two visits to the ER four days apart, my white blood count made a huge jump between visits (I have chronic lymphocytic leukemia). Additionally my CK level jumped from 238 (high normal) to 608 (ultra high) in the four days between visits. My oncologist wanted my rheumatologist to do a muscle biopsy which never happened, in fact this huge jump was ignored going forward. (I see a rheumie because I also have Sjögren's, an autoimmune disease, similar to lupus.)

My oncologist began immunotherapy (rituxan) to help both the leukemia and my Sjögren's, which he determined were the cause for everything. The infusions brought my cancer into normal parameters and stopped the flare of muscle weakness and sob, though symptoms continued. (Over time I was able to peel a few symptoms away, like the gut issues and blame them on other things.)


My specialists gave up and told me to go to Mayo (I couldn't afford to travel so I took it on myself. My PCP had left and my next PCP appt with someone not yet hired, was over a year away.


One day I googled why my jaw got so tired when I ate and MG popped up. So I googled further discovering that the muscle strength and SOB were not only part of it, but I found a brochure the MG Foundation of America produced on MG's bulbar symptoms and I discovered I had them all. Who knew talking through your nose or lisping were serious. I had a boatload of odd symptoms on a list waiting for some future ENT appt including difficulty with choking.

I convinced my rheumatologist to run the MG labs which came back negative...he was seriously through accommodating me though. (Like you, it'd been a few years since I'd seen my neurologist and found I was a new patient, but he didn't do MG, so... I needed a referral to see someone and I didn't have a PCP...

So I kept reading I discovered that the med I took to slow the progression of Sjögren's, hydroxychloroquine, could cause or unmask MG. During this time I was given a PCP (probably because I had been a pain in the butt). She ordered two swallowing tests (done in the morning-- my symptoms worsened as the day progressed). They concluded that I am indeed choking, but it was because I have Barrett's Esophagus and my valves were affected causing my swallowing issues.

My PCP got me an appt with an MG specialist but it was 5 months out. It was during this time that I had three episodes where I awoke unable to breathe with my head congested and phlegm filling my head, mouth and throat. (I'd been having trouble coughing up phlegm for some time.) Muscle weakness gripped me making it difficult to get to the bathroom and juggling the coughing, spitting and breathing was frightening as hell. I drastically needed oxygen and the possibility of inhaling phlegm made it difficult. I got through each of the episodes but they left me spent, sitting on the toilet and fighting to breathe for what seemed like an eternity. My new PCP's response was, 'I'm sorry that happened."

It was after this that I contacted my PCP and rheumatologist suggesting I discontinue hydroxychloroquine (and gabapentin because it can exacerbate MG) fully knowing my Sjögren's flares, fatigue, joint/muscle pain and neuropathy would return. Within weeks, my muscle weakness, and SOB all but disappeared and the bulbar issues, ptosis, speech and swallowing difficulties all diminished, but did not go away. Oh yeah, my smile was returning, which was the best!

I finally got my neurology specialist appt a few weeks ago but passed the EMG and nerve conduction studies with flying colors because I was no longer having the bodily muscle issues. I didn't get my diagnosis which is hugely disappointing... He told me the gabapentin shouldn't have been a problem so I began ramping it back up as the neuropathy had returned with a vengeance.

I'm still ramping up the gabapentin, but at physical therapy two days ago I was hit with returning exercise intolerance and SOB out of the blue. My smile is gone again, ptosis and swallowing are slightly worse... I just finished documenting all of this this morning which I'm portaling to the specialist today. Is gabapentin to blame? Will I get a diagnosis now?...

It's disheartening not having a diagnosis. During my quest for it, I had pushed all my doctors hard; my rheumatologist was even hostile at our appt two weeks ago until he realized I was truly only there for my Sjögren's that day.

Yeah, I knew (know) something was wrong with me which is why I pushed so hard. And now, just over a year after the flare from hell, I don't even know if anyone believes me.

(I'm sorry for the rambling; I kinda needed to spout. I'm raw and it's been a very difficult year.)