KickerOfChairs
New member
- Joined
- Dec 24, 2019
- Messages
- 2
- Reason
- Learn about ALS
- Diagnosis
- 00/0000
- Country
- US
- State
- MI
- City
- Ann Arbor
Hello!
First, I’d like to thank all who contribute here; as an administrator of a large, online support group for those with a rare neuromuscular disease, I can (to some degree) appreciate the work you do.
That said, I also apologize for the length of this post. However, I do think background is crucial, and I wanted everything contained in a single thread. I’ve read and re-read the stickies.
I’m a 33-year-old woman with a complex medical history. In addition to hEDS, POTS, and common variable immune deficiency (CVID), I also have 5 autoimmune disorders. Of these, a few affect specific bodily regions - ulcerative colitis, ankylosing spondylitis, and bilateral panuveitis - while others are more systemic - lupus (SLE) and myasthenia gravis. As much as I’d love to scrub a few of these from the records, I do trust all of the diagnoses: all were confirmed using gold-standard testing performed by board-certified specialists at big-name research hospitals like the University of Michigan and Stanford. I’m also a real stickler for proper testing as I spent nearly 10 years as a biostatistician.
I’m sure you can already guess my primary diagnostic hiccup: myasthenia gravis (MG). I’ve had MG for 10 years (aged 23 at dx) and was reasonably well-controlled until about 2.5 years ago. Since the onset of the AS/panuveitis combo, my MG’s been almost completely non-responsive to treatment; i.e., refractory. I went from full independence to walking no further than 50-100 ft with a walker, needing help with all ADLs, and heavy NIV use (I use a Trilogy Evo 12-24 hrs/day). Still, I’m in a state of chronic neuromuscular respiratory failure and have had 7 myasthenic crises these last 2.5 years; note, a crisis is an episode of acute respiratory arrest/failure necessitating intubation with invasive/mechanical ventilation. I work with a local, general neurologist and one of the country’s top neuromuscular specialists who focuses on MG – though he’s 700 miles away – but both doctors are noticeably burnt out. MG’s rarely fatal (~5% mortality rate), largely because repeat crises are so rare, so as one of the few for which all treatments have failed and crises keep happening, I’ve essentially been branded a lost cause; an unfortunate statistic.
Now I’m having new, concerning symptoms. I fully understand that my prognosis with MG is poor, but I still deserve an objective and thorough work-up from an unbiased neurologist. [Besides, I'm not one to give up easily, and regardless of what this is, I deserve a chance at closure and/or increased quality of life.]
It’s important to note that my MG symptoms are almost exclusively limited to proximal and bulbar muscles – eyes and face (primarily right-sided), throat, neck (worse with flexion), bilateral shoulders, core, and hip flexors. My distal muscles are rarely impacted, even in crisis; I’m always conscious/unsedated on ventilator, and I've always been able to grip a pen and clipboard to write (right-handed).
About 6-7 months ago, I began getting infrequent yet severe muscle cramps in the soles of my feet and my left hand. The cramps are strong enough to create instant knots in my palm and arches, dislocate toes, etc. Even without knots/active cramps, the muscles in the arches, calves, and throughout the left hand and arm continually, gradually tense, requiring stretching just to regain normal range of motion (note: I’m naturally very hypermobile). As my husband helped me stretch one day, he commented that I’d lost mass in my left calf. I began photo-documenting. I addressed these concerns with my neuromuscular specialist in mid-Dec, but he merely joked that I “wasn’t allowed to have another disease.”
I tried to ignore the cramps and tightness (the extra chaos of COVID-19 and an MG crisis in Feb helped!), but by early May, things progressed enough to impact daily life. In a way, the changes snuck up on me, perhaps because I’ve grown so used to adapting to functional loss through the years. My left hand/arm is the primary concern, but my left leg isn’t far behind. The visual difference between my right and left hands is striking; I’ve lost a decent chunk of the exterior portion of the left thenar muscle along with muscles around the base of my thumb and around my wrist, causing the skin to appear permanently wrinkled and hollow-looking. Meanwhile, the portion of the thenar muscle the attaches into the palm (don't know names - I know the thenar's got multiple parts) has bulked up considerably - this is the part that's cramping, tensing, and "knotting." My left hand’s historically been my “work horse,” always stronger on clinical exam/in OT, but now it drops everything from coffee mugs to pill bottles. I lack the grip/pinch strength to open said pill bottles, zip (or pull apart) plastic bags, button or zip clothing, etc. I can’t fully extend the fingers or wrist anymore, the triceps are very tight, and the hand and arm want to curl in, so to speak? The way it naturally wants to rest is strange: I've been affectionately calling it my T-rex arm. But I'm doing everything in my power not to coddle it because any muscle lost is nearly impossible to regain in refractory MG.
The lower left leg’s lost enough mass that there’s subtle pitting at the top front shin above the foot, and the Achilles is exposed from ankle to base of calf both at rest and in action; may not seem important as a lot of people are “stringy” here, but this differs greatly from my right side and the cankles to which I've grown accustom.
The calf is noticeably smaller than its right counterpart, and you can pinch about 1" of soft tissue off. I can no longer stand on heels or toes at all, not that I was great at it before. I now have a mild, persistent foot drop on the left, and yesterday I had my first fall. Well, technically, it wasn’t my first: I’ve fallen from MG before, but this was very different. With MG, I have to push something to failure before it gives out. "Pushing" is a process: it feels like an intense workout, the world's hardest day at the gym. Sometimes, it only takes a few minutes or less to reach that failure point, whereas on other days it may take hours (depends on the specific muscle, how well I’m managed at the time, etc.), but it has this characteristic degradation and shake before collapse/failure. With this? Totally different. I felt fine from an MG perspective, took a small step (more like weight-shifting, actually), then…boom. I was on the floor. Same as when I drop pill bottles with my left hand: I’ll reach for a bottle out of the cabinet without paying attention and not realize I’ve dropped it until I hear it hit the counter.
That said, I’ve had no changes in sensation – no numbness, burning, tingling, etc. – no pain aside from that associated with the cramps/spasticity, and the new “weakness” (like I just described) isn’t really what I’d call weakness. But those are my main symptoms: cramps, spasticity, atrophy, and “weakness”/inability to do things. I have mild fasciculations in these same places, nowhere else in the body, but they’re nothing to write home about.
As it stands, there are no clear reasons for my symptoms. MG doesn’t cause any of this. In the last year or so while they’ve tried to discern why my MG’s deteriorated, my doctors have run a multitude of tests:
I saw my local, general neurologist last week. When I told her about my symptoms via portal to convince her to meet (their office is telemed-preferred right now, which I'd normally love), she said she was certain it’d just be steroid myopathy. But once she saw it (both hand and leg), she changed her mind, stating it was “too focal” for that. (Attaching images of some confirmed atrophy.) She conducted some basic reflex testing – elbows, knees, no Hoffman’s or Babinski’s – and found that my left patellar reflex did a total 180 from hypo- to hyperreflexive. It shook her enough that she rechecked it 4 times to be certain, comparing right and left. The only strength tests she conducted were MG-specific (neck flexion, ptosis, SBC – nothing distal); I’d recently been hospitalized, and while I’d made the appointment weeks ago to discuss these non-MG symptoms with her, it was hard to keep her focused on the topic at hand. She did strength and reflex testing before examining the atrophy; I wonder if she would’ve done things differently had it been the reverse.
I left the appointment with her agreeing to perform an EMG next week. However, she said she’d only look at the left arm and leg. I’m not sure if this is sufficient. I asked if it’d be beneficial to at least look at other limbs (e.g., right leg – no atrophy yet but am getting cramps, might be the next place this “travels”), but she insisted that “if the EMG shows anything, it’ll show it in one of those 2 [symptomatic] limbs.”
I’m nervous. I know all too well from my diagnostic journey with MG (and from professional experience) that electrodiagnostics are an imperfect science: when performed by skilled providers, they’re an amazing tool, but they’re only as good as the doctor performing them. My doctor isn’t certified in neuromuscular medicine. I’m the only MG patient on her roster, and I’d be shocked if she had any MND patients (hence why we utilize a consulting specialist). I just don’t want her to do a mediocre job on the test like she did on my clinical exam, declare me “okay…enough? maybe?,” and sweep the whole thing under the rug because of my likely-terminal MG. I tried circling back with my consulting specialist, and while he agrees this requires an EMG, he didn’t give details on how it should be performed, nor is he necessarily an ALS/MND specialist (he’s squarely focused on MG and admitted in our last appointment that he hadn’t seen/treated an ALS case since residency).
I fully understand that you aren’t able to provide true clinical advice (we issue the same warnings in our group), but I wondered:
Thanks again for bearing with me. You’re superheroes.
First, I’d like to thank all who contribute here; as an administrator of a large, online support group for those with a rare neuromuscular disease, I can (to some degree) appreciate the work you do.
That said, I also apologize for the length of this post. However, I do think background is crucial, and I wanted everything contained in a single thread. I’ve read and re-read the stickies.
I’m a 33-year-old woman with a complex medical history. In addition to hEDS, POTS, and common variable immune deficiency (CVID), I also have 5 autoimmune disorders. Of these, a few affect specific bodily regions - ulcerative colitis, ankylosing spondylitis, and bilateral panuveitis - while others are more systemic - lupus (SLE) and myasthenia gravis. As much as I’d love to scrub a few of these from the records, I do trust all of the diagnoses: all were confirmed using gold-standard testing performed by board-certified specialists at big-name research hospitals like the University of Michigan and Stanford. I’m also a real stickler for proper testing as I spent nearly 10 years as a biostatistician.
I’m sure you can already guess my primary diagnostic hiccup: myasthenia gravis (MG). I’ve had MG for 10 years (aged 23 at dx) and was reasonably well-controlled until about 2.5 years ago. Since the onset of the AS/panuveitis combo, my MG’s been almost completely non-responsive to treatment; i.e., refractory. I went from full independence to walking no further than 50-100 ft with a walker, needing help with all ADLs, and heavy NIV use (I use a Trilogy Evo 12-24 hrs/day). Still, I’m in a state of chronic neuromuscular respiratory failure and have had 7 myasthenic crises these last 2.5 years; note, a crisis is an episode of acute respiratory arrest/failure necessitating intubation with invasive/mechanical ventilation. I work with a local, general neurologist and one of the country’s top neuromuscular specialists who focuses on MG – though he’s 700 miles away – but both doctors are noticeably burnt out. MG’s rarely fatal (~5% mortality rate), largely because repeat crises are so rare, so as one of the few for which all treatments have failed and crises keep happening, I’ve essentially been branded a lost cause; an unfortunate statistic.
Now I’m having new, concerning symptoms. I fully understand that my prognosis with MG is poor, but I still deserve an objective and thorough work-up from an unbiased neurologist. [Besides, I'm not one to give up easily, and regardless of what this is, I deserve a chance at closure and/or increased quality of life.]
It’s important to note that my MG symptoms are almost exclusively limited to proximal and bulbar muscles – eyes and face (primarily right-sided), throat, neck (worse with flexion), bilateral shoulders, core, and hip flexors. My distal muscles are rarely impacted, even in crisis; I’m always conscious/unsedated on ventilator, and I've always been able to grip a pen and clipboard to write (right-handed).
About 6-7 months ago, I began getting infrequent yet severe muscle cramps in the soles of my feet and my left hand. The cramps are strong enough to create instant knots in my palm and arches, dislocate toes, etc. Even without knots/active cramps, the muscles in the arches, calves, and throughout the left hand and arm continually, gradually tense, requiring stretching just to regain normal range of motion (note: I’m naturally very hypermobile). As my husband helped me stretch one day, he commented that I’d lost mass in my left calf. I began photo-documenting. I addressed these concerns with my neuromuscular specialist in mid-Dec, but he merely joked that I “wasn’t allowed to have another disease.”
I tried to ignore the cramps and tightness (the extra chaos of COVID-19 and an MG crisis in Feb helped!), but by early May, things progressed enough to impact daily life. In a way, the changes snuck up on me, perhaps because I’ve grown so used to adapting to functional loss through the years. My left hand/arm is the primary concern, but my left leg isn’t far behind. The visual difference between my right and left hands is striking; I’ve lost a decent chunk of the exterior portion of the left thenar muscle along with muscles around the base of my thumb and around my wrist, causing the skin to appear permanently wrinkled and hollow-looking. Meanwhile, the portion of the thenar muscle the attaches into the palm (don't know names - I know the thenar's got multiple parts) has bulked up considerably - this is the part that's cramping, tensing, and "knotting." My left hand’s historically been my “work horse,” always stronger on clinical exam/in OT, but now it drops everything from coffee mugs to pill bottles. I lack the grip/pinch strength to open said pill bottles, zip (or pull apart) plastic bags, button or zip clothing, etc. I can’t fully extend the fingers or wrist anymore, the triceps are very tight, and the hand and arm want to curl in, so to speak? The way it naturally wants to rest is strange: I've been affectionately calling it my T-rex arm. But I'm doing everything in my power not to coddle it because any muscle lost is nearly impossible to regain in refractory MG.
The lower left leg’s lost enough mass that there’s subtle pitting at the top front shin above the foot, and the Achilles is exposed from ankle to base of calf both at rest and in action; may not seem important as a lot of people are “stringy” here, but this differs greatly from my right side and the cankles to which I've grown accustom.
The calf is noticeably smaller than its right counterpart, and you can pinch about 1" of soft tissue off. I can no longer stand on heels or toes at all, not that I was great at it before. I now have a mild, persistent foot drop on the left, and yesterday I had my first fall. Well, technically, it wasn’t my first: I’ve fallen from MG before, but this was very different. With MG, I have to push something to failure before it gives out. "Pushing" is a process: it feels like an intense workout, the world's hardest day at the gym. Sometimes, it only takes a few minutes or less to reach that failure point, whereas on other days it may take hours (depends on the specific muscle, how well I’m managed at the time, etc.), but it has this characteristic degradation and shake before collapse/failure. With this? Totally different. I felt fine from an MG perspective, took a small step (more like weight-shifting, actually), then…boom. I was on the floor. Same as when I drop pill bottles with my left hand: I’ll reach for a bottle out of the cabinet without paying attention and not realize I’ve dropped it until I hear it hit the counter.That said, I’ve had no changes in sensation – no numbness, burning, tingling, etc. – no pain aside from that associated with the cramps/spasticity, and the new “weakness” (like I just described) isn’t really what I’d call weakness. But those are my main symptoms: cramps, spasticity, atrophy, and “weakness”/inability to do things. I have mild fasciculations in these same places, nowhere else in the body, but they’re nothing to write home about.
As it stands, there are no clear reasons for my symptoms. MG doesn’t cause any of this. In the last year or so while they’ve tried to discern why my MG’s deteriorated, my doctors have run a multitude of tests:
- Full brain and spinal MRIs with contrast (clean of demyelinating processes, nerve root impingements, injuries, etc.)
- Full repeat testing for all forms of MG – autoimmune, congenital, and LEMS (same results as before: no indication of LEMS (negative paraneoplastic panel) or congenital MG; anti-AChR modulating-ab positive, no other antibodies; previous positive SFMEG and thymoma)
- Tests for mitochondrial myopathies (all negative)
- Inflammatory blood markers – e.g., CK, aldolase, sed rate – much of which I have tested every 2-3 months for other conditions (all normal, as these conditions are well managed)
- And a host of “routine” blood work – e.g., CMPs, CBCs w/diff, etc. – which I get tested every 2 weeks (all normal, except for the occasional high WBC during an active infection).
I saw my local, general neurologist last week. When I told her about my symptoms via portal to convince her to meet (their office is telemed-preferred right now, which I'd normally love), she said she was certain it’d just be steroid myopathy. But once she saw it (both hand and leg), she changed her mind, stating it was “too focal” for that. (Attaching images of some confirmed atrophy.) She conducted some basic reflex testing – elbows, knees, no Hoffman’s or Babinski’s – and found that my left patellar reflex did a total 180 from hypo- to hyperreflexive. It shook her enough that she rechecked it 4 times to be certain, comparing right and left. The only strength tests she conducted were MG-specific (neck flexion, ptosis, SBC – nothing distal); I’d recently been hospitalized, and while I’d made the appointment weeks ago to discuss these non-MG symptoms with her, it was hard to keep her focused on the topic at hand. She did strength and reflex testing before examining the atrophy; I wonder if she would’ve done things differently had it been the reverse.
I left the appointment with her agreeing to perform an EMG next week. However, she said she’d only look at the left arm and leg. I’m not sure if this is sufficient. I asked if it’d be beneficial to at least look at other limbs (e.g., right leg – no atrophy yet but am getting cramps, might be the next place this “travels”), but she insisted that “if the EMG shows anything, it’ll show it in one of those 2 [symptomatic] limbs.”
I’m nervous. I know all too well from my diagnostic journey with MG (and from professional experience) that electrodiagnostics are an imperfect science: when performed by skilled providers, they’re an amazing tool, but they’re only as good as the doctor performing them. My doctor isn’t certified in neuromuscular medicine. I’m the only MG patient on her roster, and I’d be shocked if she had any MND patients (hence why we utilize a consulting specialist). I just don’t want her to do a mediocre job on the test like she did on my clinical exam, declare me “okay…enough? maybe?,” and sweep the whole thing under the rug because of my likely-terminal MG. I tried circling back with my consulting specialist, and while he agrees this requires an EMG, he didn’t give details on how it should be performed, nor is he necessarily an ALS/MND specialist (he’s squarely focused on MG and admitted in our last appointment that he hadn’t seen/treated an ALS case since residency).
I fully understand that you aren’t able to provide true clinical advice (we issue the same warnings in our group), but I wondered:
- Do these symptoms sound enough like ALS/MND that I should keep this diagnosis on my radar?
- Do you think the 2 sites (left arm and left leg) will provide sufficient EMG testing?
Thanks again for bearing with me. You’re superheroes.
