I have a new diagnosis: Congenital Myasthenic Syndrome.

If you've never dealt with a rare disease workup, the basic shape is this:

You do not usually begin with the answer.

You begin with whatever part of the problem is loudest, or most measurable, or most dangerous that year.

Then you accumulate tests, labels, specialists, medications, partial explanations and an increasingly baroque understanding of your own body until eventually some poor doctor or genetic report stumbles into the piece that makes the prior decade read like a coherent paragraph instead of a filing cabinet that was dropped down some stairs.

That is more or less what happened here.

If you want the previous context, the relevant things are:

Contents

Short version

For years I had a story that looked something like this:

  • I fainted and developed obvious autonomic nervous system problems.
  • I collected a variety of positive tests for neuropathic disease.
  • I accumulated more weakness, more falls, more hand problems, more breathing weirdness, more foot drop, more fatigue and more "what exactly is that?" type symptoms.
  • I received diagnoses that explained parts of the problem, but did not quite explain the whole shape of the thing.

Now I have a diagnosis that makes a great deal more sense of the weakness and fatigability side of my life:

The journey

The thing that I think healthy people, and frankly a lot of doctors, underestimate is how normal it is for rare disease discovery to look messy in retrospect.

The tests are not necessarily wrong.

The doctors are not necessarily missing something obvious.

The symptoms are not necessarily unrelated.

What happens instead is that you find the parts of the elephant that available tools can currently detect, and then you name those parts. If this sounds like the blind men and the elephant, that is because it pretty much is. If the trunk is what you can feel first, congratulations, you now have a trunk diagnosis. If the tail shows up three years later, you get a tail diagnosis. Eventually someone has to stand back and admit that perhaps an elephant has been ruining your life.

Back in 2009, I had the fainting episode that kicked off the long medical saga. I passed out, smashed my face, was initially misread in the ER, passed out again during orthostatic testing, and eventually got moved through the conveyor belt of doctors and tests. At the time, the working explanation that rose to the top was Pure Autonomic Failure.

That was not an insane conclusion given what was visible then:

  • low blood pressure
  • orthostatic hypotension - blood pressure dropping when I stood up
  • bradycardia - heart rate that likes to idle suspiciously low
  • fainting
  • fatigue
  • panic-like autonomic events

As I wrote later on the Health page, the autonomic symptoms were real and objective. Tilt-table testing was positive. Years later QSART was positive. The autonomic progression was real and documented over time.

That is, in retrospect, exactly the sort of thing that can happen in a rare disease journey.

You catch a real part of the problem first.

You name it correctly enough to be useful.

Then the rest of the body keeps misbehaving.

Then the neuropathies showed up on paper

As I wrote in More Health and then in much more detail on Health, I eventually got the sort of objective results that I had wanted for years:

That part is still true.

I still have neuropathies.

The skin biopsy was positive. The autonomic testing was positive. The later NCS/EMG was positive. The symptoms attached to those findings were not subtle:

  • weird sensations
  • burning pain
  • reduced sensation
  • dropping things
  • balance problems
  • gait problems
  • foot drop
  • falls
  • increasingly obvious hand dysfunction

That part of the story also fits the rare disease pattern depressingly well.

An early NCS/EMG was inconclusive. A later one was also not definitive enough. Then later still it became clearly abnormal. That is not especially shocking when the disease process is progressive, patchy, or simply not pronounced enough in the right place at the right time to satisfy the test.

People often imagine tests as magical truth machines. In reality, they are more like awkward interviews with a witness who only saw the side of the car.

The skin biopsy saw something. Autonomic testing saw something. Later electrodiagnostics saw something.

All of those somethings were real.

So what was wrong then?

I think the best way to put it is:

The previous diagnoses explained slices of the problem, but not the whole shape, and some of the slices naturally pulled attention away from the layer that was harder to see.

The one that I have distrusted the most for years is Fibromyalgia. I said so rather directly in Let's Talk About Me and My Future and even more directly in More Health.

Fibro always felt like a bucket that symptoms were dropped into because no one yet had the right bucket in the room.

It may have been a reasonable attempt to classify the pain experience at the time, but it did not feel like a satisfying explanation to me then, and it feels even less satisfying now.

Pure Autonomic Failure is trickier.

I do not think that was necessarily an absurd diagnosis. It fit a huge amount of what was visible early on. But as the years rolled on, it increasingly looked like an incomplete diagnosis rather than a complete one. It told part of the story and then stood there awkwardly while the rest of the story wandered in carrying foot drop, ptosis, breathing weirdness and muscle fatigability.

This is another very normal rare-disease problem: once you have a diagnosis that explains the major early findings, there is a natural tendency to route future weirdness through that diagnosis until the weirdness becomes too weird even for that.

Panic Disorder is also a funny one.

I still think the events I described are real. I also still think many of them were not "classic panic disorder" in the way people usually mean it. I wrote before that they felt more like autonomic attacks than fear-driven episodes. I still think that was basically right.

What I suspect now is that some things that looked psychiatric, or looked "autonomic and weird", were actually downstream of a neuromuscular problem that had not yet been properly named.

Why CMS makes sense

The part of my health story that never felt elegantly explained was the fatigable weakness.

Not pain.

Not sensory weirdness.

Not blood pressure doing a little vaudeville routine every time I stood up.

The weakness.

The "I can do this until suddenly I can't" part.

The "my hands stop being useful", "my feet don't do what I intend", "my eyelid is doing a bad impression of gravity", "breathing feels mechanically stupid", "everything works until use enters the chat" part.

Looking back through what I wrote on Health, those pieces were sitting there the whole time:

  • ptosis
  • weakness
  • foot drop
  • falls
  • hand fatigue
  • dropping objects
  • reduced tolerance for drumming / bass / guitar
  • typing failure
  • movement stuttering
  • breathing that feels like it is happening in the wrong direction

That cluster of problems reads differently now.

It reads much more like a neuromuscular junction or neuromuscular transmission problem than a vague byproduct of pain, stress, or me having the sort of luck that would make a statistician sit down quietly.

For readers who are unfamiliar: CMS is not the same thing as myasthenia gravis, though the two can look similar from the outside. CMS is a group of inherited disorders that affect how nerve signals get translated into muscle action. In plain English: the message gets sent, but the muscle does not receive or respond to it normally.

That also helps explain how the process can be misleading.

If you do the wrong test at the wrong time, or test the wrong muscle group, or catch me on the wrong day, you may see nothing impressive.

If you focus on the sensory findings, you will build a sensory story.

If you focus on the autonomic findings, you will build an autonomic story.

If you focus on the pain, you may build a fibro story.

If you step back and look at the long arc of fluctuating weakness, ptosis, breathing oddities, hand failure, foot drop, falls and task-related exhaustion, then CMS starts to look less like a surprise and more like the thing that was patiently waiting for the rest of the paperwork to stop talking.

How CMS gets diagnosed

One of the annoying things about CMS is that there is not just one neat little conveyor belt into the diagnosis.

There are a few common paths.

The "this looks like myasthenia" path

Some people get to CMS because they look like they have myasthenia gravis, especially if there is:

Then the workup starts going in that direction:

If the clinical picture looks myasthenic, but the usual autoimmune story does not quite fit, CMS starts to become more interesting.

The "seronegative and confusing" path

Some people get there because they spend a long time living in the land of "probably but not quite".

The symptoms look neuromuscular. The standard explanation does not hold together. The antibodies are negative. The test results are suggestive, partial, inconsistent, or only abnormal in the right muscles on the right day.

That is where a lot of rare disease workups live for a while.

Not wrong enough to be dismissed. Not clean enough to be satisfying.

The "it has been there forever" path

Some people get diagnosed because the history itself is loud:

  • symptoms from childhood
  • unusual motor development
  • lifelong fatigability
  • family history
  • a pattern that very clearly predates adult illness or injury

In those cases the question becomes less "what new thing happened?" and more "what old thing finally got named properly?"

I had some of that as well.

Not in the cinematic epiphany sense.

More in the dull bureaucratic sense.

Things like abnormal gait, hand weakness, especially during handwriting classes, and frequent tripping were noted when I was young in the sort of administrative places that adults tend to bury meaningful observations, such as report cards. The gait differences were noticeable enough that I was occasionally made fun of for them.

That is another way rare diseases slide by for years. The symptoms are there, but they are interpreted as awkwardness, poor coordination, lack of stamina, or just "one of those things". Then decades later you look back and realize that a bunch of ordinary school paperwork was quietly documenting the early shape of the disease.

The genetics path

Ultimately CMS is usually confirmed through genetic testing.

How you get to the genetic test varies:

Sometimes the diagnosis is suspected first and then confirmed genetically. Sometimes the genetics are what drag the diagnosis into the room by the collar.

In my case, it was a nerve panel genetics test.

And because apparently the universe prefers farce to efficiency, the positive result effectively sat in limbo for about 2 years.

My neurologist had medical issues of his own and was out for a long period. In the interim, another neurologist saw me and somehow missed that the panel had already come back positive.

So the answer was, in a very literal sense, already in the chart while everyone continued acting like the chart might someday become useful.

After that result was actually recognized, I had another EMG and that test was positive as well.

More specifically, I had presynaptic results on the repetitive EMG testing.

In plain English: the problem pattern looked like the nerve ending was not handling transmission to the muscle normally. That does not mean "the nerve is dead" or "the muscle is dead". It means the signaling across the junction is impaired in a way that fits a presynaptic neuromuscular transmission defect.

That matters because it lines up much better with the CMS story than a vague "well, something is off I guess" sort of result.

That sequence is irritating, but it is also a good example of how rare disease diagnosis can fail for very ordinary reasons:

  • the right test was ordered
  • the test actually found something
  • the result did not get integrated into the active story quickly enough
  • more time passed
  • then the next layer of testing finally lined up with the thing that had already been sitting there

The "other tests were real, but not final" path

This is the one that feels relevant to my story.

You can have other real abnormalities.

You can have autonomic abnormalities. You can have neuropathic abnormalities. You can have abnormal electrodiagnostics. You can have years of specialists all identifying real things.

And yet still not have the central diagnosis.

That is part of why rare diseases are such a nuisance. You do not always get one elegant false lead and then one elegant correct answer. Sometimes you get several true things, one missing thing, and a great deal of confusion created by the order in which they were discovered.

What is still true

I still have:

This is not one of those tidy stories where a doctor arrives with perfect timing and says:

"Actually, good news, all prior suffering was administrative."

No.

It is more like:

"You had multiple real findings, some early labels that were reasonable for the evidence available at the time, a handful of misleading dead ends, and one central explanatory piece that took far too long to identify."

That missing piece appears to have been CMS.

Treatment now

Currently I am taking:

  • Firdapse - helps improve neuromuscular transmission
  • Mestinon - also intended to improve signal transmission at the neuromuscular junction
  • Albuterol - yes, the asthma medication; some CMS subtypes benefit from it

I am also still taking:

And I still rely on the non-drug things I've written about on Health:

The broad shape of my life has not changed.

The explanatory model has changed.

And frankly, after years of this, that matters a lot.

The process

It is difficult to explain how annoying a long diagnostic journey is without sounding melodramatic.

You begin with optimism.

Then you become "well-informed".

Then "well-informed" turns into "annoying".

Then "annoying" turns into someone who can smell an exclusionary diagnosis before the clipboard even hits the exam room door.

Then you accumulate binders, scans, studies, failed medications, positive tests, negative tests, and doctors who are either helpful, incurious, overworked, brilliant, dismissive, unlucky, or all six in a single appointment.

Somewhere in there your life keeps happening.

Bills still exist. Gravity still exists. Shoelaces still exist. Computers still need to be operated. You still have to figure out how to not eat the wrong thing, not fall down the stairs, not trigger a migraine, not have a panic-like event in public, not miskey every third word, and not drop a glass because your hand has decided that ownership is a fluid concept.

That is the part that medical timelines usually leave out.

The timeline is not:

  • symptom
  • doctor
  • answer

The real timeline is:

  • symptom
  • symptom
  • weird symptom
  • funny symptom that becomes unfunny
  • doctor
  • test
  • bad explanation
  • work around it
  • more symptoms
  • another test
  • some hope
  • no, not that
  • another medication
  • side effects
  • another year
  • another adaptation
  • another explanation that is almost right
  • and then, eventually, something that seems to fit the actual shape of your life

Meta

This post took:

  • many years to earn
  • 2 hours to write
  • significantly longer to live through