Almost Alike: A Medical Cautionary Tale

Medical bracelet that says “Adrenal Insufficiency”.

I’ve been thinking about medical stuff a lot lately, so apologies if my posts tend towards the medical for a little while.  It’s what happens when you suddenly realize how lucky you are to be alive, and how close you came to death.  My father’s cancer has me thinking about life and death and medical care a lot, too.

In my dealings with doctors, I have found that they like the solutions to their problems to be neat and tidy.  In particular, they want there to be one diagnosis that explains all the symptoms they’re observing.  They want their patient to have that one diagnosis, and if their patient shows signs of more than one thing, it fouls up everything the doctor wants.

Case in point:  I had this neurologist at the headache clinic.  I told him that they strongly suspected my mother of having myasthenia gravis, or hereditary myasthenia.  Both are neuromuscular junction diseases that cause specific muscles to wear out quickly as you use them.  So for instance my eyes start out tracking the same object fairly well, but as time goes on, they drift outwards leaving me seeing double.  I had told my neurologist all about this, and about other muscular problems I’d been having.

I don’t remember why myasthenia came up, but I told him I was going to start on Mestinon, a medication that treats myasthenia.  His response was swift and a little annoyed:  “It’s not going to do anything.  I don’t think you have myasthenia.” 

“Why not?”

“Because people with myasthenia have trouble with specific muscle weakness. You have generalized weakness.  It’s not the same thing.”

He explained it as if I didn’t know this.  But he also explained it as if I hadn’t told him time and time again about the specific weakness, that was separate from the generalized weakness.  As if I hadn’t told him things were more complicated than he was expecting.

He offered to run an EMG but told me the results would be negative because “You just don’t have myasthenia gravis.”  I declined the testing.  I don’t like to be tested under circumstances where the doctor has already determined what the results are going to be.  Plus, I’d just been through an invasive procedure that left me in horrible pain for weeks, and I didn’t feel like being poked and prodded again.

But I did try the Mestinon, and it did make a difference.  It was subtle at first.  I could walk around my apartment without falling.  My eyes tracked things better, and for longer, before the double vision kicked in.  It was things like that.  The more Mestinon we added, the better those things got.  So it seemed my headache doctor was wrong, and there was something real about the effects of the Mestinon.

But in other areas, I was getting weaker.  In fact, as far as I could tell, I was dying.  I was hesitant to tell anyone this fact, because it felt like a fairly dramatic thing to announce.  But I’d known terminally ill people who had more energy than I had at times.  And I have instincts that tell me when something is going badly wrong.  Something was going badly wrong, and it went along with that more generalized muscle weakness.

I’ve already told the story of how I got diagnosed with severe secondary adrenal insufficiency.  And that’s what happened.  They found no measurable evidence of cortisol or ACTH in my blood.  When they flooded me with ACTH, I made cortisol, but not as much as expected.  Meaning my pituitary gland is not making enough ACTH to tell my adrenal glands to make cortisol.  And this was the reason for, among many, many other symptoms, my severe muscle weakness that affected my entire body.

I went into treatment for adrenal insufficiency and everything seemed to be looking up.  No longer bedridden.  No longer required to use a wheelchair for anything.  Not that I minded these things so much when they were happening, but it’s nice to be able to get up and walk up and down a flight of stairs when you want to.  It feels good to be able to exercise, after six years of bedrest.  Dexamethasone makes me feel alive again, instead of waiting for the next infection to kill me.   I feel strong, and sturdy, and robust, in a way I haven’t in years, and my friends sense the same thing about me.

The only problem?  Not everything went away.  I still had weakness in specific muscles.  I’d been referred to a new neurologist at the same time they were testing my cortisol.  This neurologist never pretended he had any answers.  He was simple and methodical in the way he worked.  He would come up with a list of every possibility, no matter how remote, and then he would run tests for every possibility.  This made me trust him in a way that I didn’t trust my migraine neurologist.  So I let him do any test he wanted to do.

Many of the tests, he came in and did them himself, which is unusual for a doctor.  Usually they delegate that stuff.  He did a regular EMG that turned up nothing, and I thought “See, my mother didn’t have an abnormal EMG either, so whatever we have isn’t going to show up on tests.”  Neither of us showed up as having the antibodies, either.  I began to think this was going to be one of those things that we never solved.

Then he called me in for something he called a single fiber EMG.  He was going to stick a wire into my forehead and measure something about the muscles.  I remember that on that day I had a lot of trouble even holding my head up on one side, and that I was seeing double.  He stuck the wires in, made me raise my eyebrows and move my eyes around.  There were a lot of electrical noises.

At the end of the test, he told me he wanted to see me as soon as possible because the result was abnormal.  The muscles were firing asynchronously. 

I didn’t know what that meant, but a week later I was in his office being told that I probably did have a neuromuscular junction disease after all.  Probably myasthenia gravis, possibly a much rarer hereditary form of myasthenia.

And to think that literally a couple weeks before I got the single-fiber EMG, my regular doctor and I had been discussing whether I really needed to be on Mestinon anymore.  We thought maybe my only real problem had been the adrenal insufficiency all along, and that my response to Mestinon might have been some kind of placebo effect (even though I don’t seem very prone to that effect even when I want to be).  Even I was starting to fall prey to that idea that a diagnosis is just one thing.

Right now, we don’t really know what exactly my diagnosis is.  We know for certain that I have secondary adrenal insufficiency.  And we are pretty certain that I have a neuromuscular junction disorder, and the most common one of those is myasthenia gravis.  (I’m just going to refer to it as myasthenia gravis for the rest of this.  Because it’s shorter than saying “the thing we think is myasthenia gravis maybe”.)

But the important thing — the thing a lot of doctors miss — is that there is not one diagnosis here.  There are at least two diagnoses, possibly more.  This is not the first time, and it won’t be the last time, that I’ve had doctors miss something fairly obvious because they thought that the simplest explanation is always a single diagnosis. 

I still remember back when I was dealing with three different diagnoses that affected movement in different ways:  Adrenal insufficiency, myasthenia gravis, and autistic catatonia.  And any time we’d try to bring up a symptom of one of them with a doctor, they’d bring up a “contradictory” symptom from a different one of them, and that would mean that… it couldn’t be myasthenia gravis, because sometimes I froze stiff instead of limp, because I also had autistic catatonia.   And it went on like that for years, where every condition I had was ‘contradicted’ by some other condition, so many of the doctors refused to see the complexity of the situation.

Sometimes that resulted in situations that were almost funny, but other times it could turn deadly.  There was a time I was hospitalized for aspiration pneumonia connected to gastroparesis, and my doctor refused to treat me for anything other than the pneumonia.  So I had collapsed in my bed after vomiting so much that all the muscles involved had gone limp and I was starting to have trouble breathing.  In retrospect we think it was the start of an adrenal or myasthenia crisis, and that I belonged in the ICU.  But at the time, the hospitalist simply refused to treat anything that wasn’t pneumonia.  So I had to lie there totally immobilized, delirious, and hallucinating, wondering whether I was going to survive, for days on end.  All because a doctor was only willing to think about one condition at a time.

Over the years, I’ve picked up an impressive collection of diagnoses.  Many of them are based on symptoms and my response to treatments.  But some of them are based on hard-core medical tests like high-resolution CT scans — things you can’t confuse for anything other than what they are.  I’m going to list the ones that  were diagnosed by those hard-core medical tests, and understand I’m listing them here for a reason:

• Bronchiectasis (high-resolution CT scan)
• Frequent bowel obstructions (x-ray)
• Central sleep apnea (sleep study)
• Obstructive sleep apnea (sleep study)
• Early-onset gallbladder disease (ultrasound)
• Exotropia (eye exam)
• Gastroparesis (gastric emptying scan)
• GERD – reflux (barium swallow)
• Esophageal motility problems (barium swallow)
• Dysphagia (barium swallow)
• High cholesterol (blood test)
• Hypermobility syndrome (Brighton criteria)
• Myasthenia gravis or related condition (single fiber EMG)
• Secondary adrenal insufficiency (cortisol test, ACTH test, ACTH stimulation test)
• Urinary retention with spastic urethra (urodynamic testing)

So this is fifteen different conditions right here, that there is no possible way that I don’t have them.  They’ve been tested for, the tests are valid, there’s nothing unusual about the tests I was given, they exist.  I’m diagnosed with a lot of other conditions, but even if we pretended that those conditions turned out to be misdiagnosed because some of the diagnosis was subjective… I’m still left with fifteen conditions here that are very much real.  Some of them are more serious than others.  But many of them are difficult and complex both on their own and in combination with each other.  (Also, many of them went years misdiagnosed because doctors refused to even test me for them, believing that a person with a developmental disability or a psych history couldn’t possibly be telling the truth about their own symptoms.)

Now imagine you’re a doctor, and I’ve walked in your door, off the street, with no medical history.  And I’ve got the symptoms of all of these fifteen conditions.  Some of the symptoms are severe enough to be life-threatening.  And your very first instinct is to try to find one condition that accounts for all of these symptoms.  You’re going to be looking for a very long time, and you’re going to be lucky if I don’t die before you figure it out.

Of course, it’s still possible that there really is one condition that explains all this.  Or at least, a small handful of conditions.  There are many genetic conditions that can cause problems all over your body, and they can be notoriously difficult to pin down.  But for the moment, we’ve had to diagnose all of these things separately in order to get a handle on how to treat them. 

It may be there’s some genetic condition that causes neuropathy (my mother and I both have symptoms of autonomic and sensory neuropathy), which could in turn cause the gastroparesis and esophageal motility problems (and dysphagia, and other things that aren’t listed above), just as one example.  But right now we don’t have that information.  Right now we just know I have gastroparesis, and that it doesn’t play well with reflux and bronchiectasis, and that if I hadn’t gotten a feeding tube in time it probably would’ve killed me.  There could also be something behind the adrenal insufficiency, but that damn near did kill me a number of times before we even knew enough about it to put me on dexamethasone. 

And that’s why it’s important that medical professionals not restrict themselves to a single diagnosis when they’re looking at what’s going wrong with someone.  If you see symptoms that look contradictory, then you ought to be wondering if you’re looking at more than one condition at once.

If there’s one thing I have noticed, having been in and out of hospitals for a long, long time… it’s that my roommates are usually people like me.  They’re people with multiple medical conditions all at once.  They’re not textbook illustrations of a single condition in all its pristine glory.  They’re a mess, just like me.  Like my roommate who had both Lesch-Nyhan and myasthenia gravis (and was a woman, which is rare for someone with Lesch-Nyhan in the first place).  They really treated her like crap, too — they wouldn’t believe a word she said about herself, unless they could verify it from some outside source, which they always did, but still never trusted her.  Sometimes I heard her crying after they left.  At any rate, I can’t remember a single hospital roommate who had only one condition, unless they were in there for a routine surgery.

Which tells me that those of us who end up in hospitals on a regular basis, at least, are people with complicated medical histories.  Not people who just have one simple thing that can be figured out.  Which means that no hospitalist should ever do what one of mine did and say “I’m only treating the pneumonia, nothing else matters, no matter how bad things get.”  I’m really passionate about this issue because I’ve seen how close to death I’ve come, how many times, just because everyone wanted my body to be simpler than it was.

Maybe the problem is that we train doctors too much on textbooks, and on the people who most resemble textbooks.  We don’t want to confuse them with too much, all at once.  So they grow to look for the one explanation that will explain it all, instead of the fifteen or more explanations that will explain it all.  And in the meantime, their patient could die while they’re waiting to get properly diagnosed.

And that’s the part that worries me.  I’m very lucky to be alive.  My doctors know I’m very lucky to be alive.  And I have a pretty amazing team of doctors.  I have a great GP, a great pulmonologist, a great neurologist, and a great endocrinologist.  These are doctors who are willing to listen to me when I know more than they do, but also willing to argue with me when they know more than I do, it’s the perfect combination. 

My GP has been here since I moved to Vermont, and he is known in the area as one of the best doctors around.  We have our disagreements, but he always explains his decisions to me, and I always explain my decisions to him.  We respect each other and that makes everything work.  He has done his best to stand up for me in situations where my social skills have caused problems with other doctors.

My pulmonologist is amazing.  She always anticipates situations where I’m going to face discrimination, and she’s always ready.  When she knew I was heading for a really bad pneumonia, she had my lungs CAT scanned to prove the pneumonia was there, because she knew nothing less than that would get me admitted to the hospital.  And even then it took all she and my GP could do to get me into the hospital and keep me there long enough to get me a feeding tube.

I’m new to my endocrinologist, but he’s clearly really good too.  He’s been helping me through the first stages of being diagnosed with adrenal insufficiency, including things as difficult as when to stress-dose and how much.  He’s given me the confidence to figure out on my own the amount of steroids I need to give myself in physically or emotionally stressful situations.  That’s a key skill you have to have to avoid adrenal crisis, and I think I’ve finally got the hang of it.

My neurologist is also new, but he’s clearly highly competent.  There’s nothing flashy about him or anything.  It’s not like he has some kind of flashy swagger like you see on TV shows.  He’s very quiet.  What he has is the ability to be mind-bogglingly thorough.  He listens to everything you have to say, he asks very careful questions, and he takes very careful notes.  Then he thinks up every possible condition that could result in the symptoms you have, no matter how rare or improbable it seems.  Then he figures out which ones are the most important to test for first.  And then he pretty much tests you for everything.  If there were two words for him, it would be methodical and thorough.  And it’s paid off — we now know I have something similar to myasthenia gravis, even though all the signs were pointing away from it for awhile.  Like my GP, he’s one of those doctors that other doctors hold in very high regard.  I can tell by the way they talk about him.

I wanted to make a point of talking about these doctors, because the point of this post is not to bash the medical profession.  These are people who have saved my life.  These are people I have built a relationship with over the years, or am in the course of building a relationship with now.  I’ve had plenty of truly awful doctors, but I’ve had a surprising number of truly great ones as well.  Most are somewhere in the middle.  But the great ones are the ones I owe my life to, many times over.  They have done things for me that, I am sure, they have never even told me about, and probably never will.

But all doctors, no matter how great, need a reminder that medical conditions don’t come in neat, orderly packages the way the textbooks make them sound.  Most disabled people and people with chronic illnesses have multiple conditions, not just one.  Often, these conditions have symptoms that can seem to contradict each other.  And even when there’s one overarching condition that causes all of them, there’s a good chance you’re going to need to find all the smaller conditions before you can put the puzzle together.  Many times, finding all the smaller conditions is a matter of life and death.  People simply can’t wait around to find the perfect most elegant answer when we’re going into adrenal crisis or myasthenia crisis on a regular basis.  Maybe there’s a reason I have adrenal insufficiency, and maybe one day they’ll find it, but for now I need to be on dexamethasone so I don’t die in the meantime.

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Backwardsness

I remember this happening with several people I spoke to about the machine I tried at MIT: When I explained that it showed physiological stress whenever I moved (that is not remotely present in other people), they said something to the effect of, “Oh, so stress causes movement difficulties, and if you weren’t stressed out you wouldn’t have as much trouble.”

Well, yes, stress can add to movement difficulties. That’s discussed in an interesting way in Interactions of Task Demands, Performance, and Neurology. But I doubt that’s what the machine was measuring.

Imagine, for a moment, that you are running a great distance. By the time you get to the finish, you find yourself sweating and gasping for air.

Imagine further, that someone notices this. They then say, “Oh, you could move much greater distances, I bet, if we found something to suppress your sweating and panting.”

This would sound ridiculous, and be very dangerous for your body. Not being able to sweat is serious: I had that problem on some medications, and it greatly reduced my tolerance for heat (lower than it was already) and exercise. Panting is an attempt to get more air into your body more quickly, and trying to run on less air would not be useful.

But nonetheless, we have situations where they say “Your brain functions certain ways when you are depressed. Therefore these brain functions cause depression!” We don’t even know whether it’s the chicken or the egg, but they think they have the answer.

For another example, I saw an autism “expert” at a time in my life when I alternated between superficially good speech and either inability to speak or really bad speech, usually several times a day by that point. She told me that if she reduced anxiety, then I would not need to use a keyboard. While she picked up the fact that I was really stressed out around speaking, she didn’t pick up the fact that it was the act of speech that stressed me out, and that had stressed me out for my entire life, because of how difficult it was. She didn’t realize that a lot of the stress she saw was an attempt to use sheer momentum to keep speech going (or that this was a reason I talked so much when I did talk — if I stopped, I wasn’t always able to start easily again). Nor did she realize that a keyboard reduced my stress levels immensely in its own right. She just saw two things she thought were associated with each other, defined the causality on her own, and insisted she knew what to do about it and what the results would be.

Reducing stress is usually a good thing in its own right. (I say “usually” because sometimes, stress is a motivator that is indispensable to some people when doing certain things: there are times when if I don’t get enough adrenaline going into doing something, I’m not going to be able to do it. But I have to pay a price for that and so do most people, I have just paid a more obvious price than most, because losing speech is a tad more conspicuous than losing the ability to run really far for awhile.) But my strong suspicion is that this measured stress, for me, is a consequence of the effort of trying to move, not the cause of the difficulty moving.

I wonder why people so often get causality backwards on these things, and then seek to alleviate the result of a problem rather than the cause of it.

Necessities.

Since I’m upright (for the moment), I want to talk about some necessities in the world.

In order to survive, people have to eat and drink. There is no way of getting around it. There has to be some way of getting nutrients and fluids. Yet people don’t generally consider food a horrible and shameful signifier of our bodies’ dependence on the world around us for survival. In just about every culture in the world, everyone who can manage even a little bit to do so will try to make their food taste good. There are entire cultural rituals around food. Food is not just about eating, it is often a social thing. It is also a integral part of many religious and ceremonial occasions. Those of us who eat through our mouths generally like our food to taste good, and there are thousands of recipes out there attesting to this.

People also have to sleep. Another biological necessity. And most people who can afford to do so find ways of making their beds comfortable and sometimes also pretty and good-smelling. People whose dreams consist of something other than constant nightmares tend to look forward to going to bed and sleeping after a long, hard day, because it feels good and they wake up rested and ready for another day. Even people who don’t have a comfortable place to sleep tend to look forward to the act of sleep itself. People talk about how much they look forward to bed, and also wish each other things like “sweet dreams”. People like to have good dreams when they sleep.

While individual people do not absolutely have to have sex (and not all individual people like to have sex), some members of the species do if we want people to keep being born. I don’t think I have to go into graphic detail to explain why most people consider this pleasant and a lot of people devote a lot of time to thinking about it. And people do and enjoy a whole lot of things that, while not being sex itself, still have to do with courtship and meeting (or being assigned) a romantic partner or future spouse. And this bond is usually considered a bond of love of one sort or another.

People in most places need some sort of protection from the elements. And in most places, people don’t stop at building or finding places to live in. If there is any way possible to do so, people tend to try to decorate their dwelling places and make them comfortable for themselves and their families or other people who live with them. And we also decorate our clothing and wear it in a variety of styles that reflect everything from what we think is pretty to assorted social and cultural markers.

If you’ve read this far you probably think I’m stating the obvious. (At least, I think I’m stating the obvious.) Which is that even when it comes to things that are universal or near-universal absolute physical necessities for the survival of human beings, we do not tend to believe that these things must be, because of this, somber, shameful, and impossible to enjoy, decorate, or embellish. (Yes, because I read up on the history of Quakerism before formal conversion, I know that we are one of the religions that has headed toward the extreme end of ascetic at times, and even condemned outward religious symbols that just about all of the rest of Christianity uses. I heard people joke at my meeting about how incredibly indulgent we were for having padding on our chairs. But while I’m definitely not a hedonist, I’m not an ascetic either.)

Anyway, there is a point in here. I’ve noticed that a lot of people, including people I know, have taken many of the statements I’ve made as meaning that ‘stimming’ (whether the word is being used to refer to unusual physical movements or to concentrating on unusual aspects of my environment) is sort of an idle pastime that I don’t have to do, I just like to do it, and that this is very different from situations where someone has to do them (at which point one can expect, apparently, the person to be very somber and/or frustrated about that fact).

I just want to make something clear here. Unusual mannerisms, paying attention to unusual things (or to the usual things in unusual ways), and all manner of other unusual things I do, are things I’ve had to do in one form or another my entire life. And a lot of people have tried very hard for the entire remembered part of my life to make me ashamed of these things, whether by calling me playground sorts of names, professional sorts of names, beating me up, commenting loudly on me in public even when I’m not hurting anyone, you get the picture. (Despite the things I am talking about being things that harm nobody, whereas many of the people I am talking about here have caused enormous degrees of harm to other people yet never been subject to any degree of shaming for it.) I have worked very hard not to feel awful about doing these things, particularly at times in my life when I haven’t been able to hide these things. I have also worked very hard not to do these things at all and only had it come back in my face ten times more forcefully. People should not have to feel what I felt or do what I did just because they also have to do these things.

Why do I need to do things this way? There’s a whole lot of answers to that.

Moving in certain ways often helps me understand what’s going on around me better than forcing myself to sit still does (and sitting still, even “unnaturally still”, when my body is not trying to move, can also be vital for this at times).

And moving in certain ways is just what my body does, and I imagine it has its reasons even if it’s not telling me.

Doing certain repetitive things helps me avoid doing much louder, more violent, and more conspicuous things in response to way the heck too much information at once. And actually staying somewhere when I want to stay there but doing these things, certainly beats running and hiding somewhere to do assorted repetitive things to calm myself down. Especially given that I often don’t have the capacity anymore to spend much time at all in certain settings without doing that stuff, whereas I used to get away with running and hiding more often.

Paying attention to unusual aspects of my environment is not only easier than forcing myself to pay attention to aspects of the environment that I’ve been trained by people with different neurologies than mine to believe are more important, and not only sometimes the only possible way to pay attention to anything, but it yields better and more accurate results for me, even if it doesn’t generally yield the results that people who’re into rapid identical plug-and-play responses are looking for.

And spending a good chunk of my time not straining myself into a foreign mindset is as necessary to me as sleep is to other people. And I need both that and sleep (which is one reason probably why I’ve often sacrificed sleep in order to have enough time where I could relax my brain). If it doesn’t happen, what will happen eventually is not only overload, but a very painful thing where a huge backlog of sensory information tries to flood my entire system at once. Unlike a lot of people, the standard mode of processing isn’t a relaxed and easy thing that automatically pre-filters all that stuff, it’s just something that shoves all that stuff aside and uses a clumsy imitation of standard ways of doing things, but all the stuff that’s shoved aside has to pop out somewhere and eventually it will.

At any rate, my take on all this is actually fairly simple: People do not generally question the necessity of food, water, sleep, sex, and protection from the elements. And people do generally enjoy those things quite a lot and even go out of their way to make them pleasant experiences. People even go to great lengths to make their eyeglasses pretty. In addition to the usual necessities, I also experience all the things I have described above as necessities, some of them even more urgent necessities now (with more input and responsibilities to sift through) than they used to be, and some of them completely unavoidable no matter what I do. I also see them as having the potential to be some combination of pleasant, enjoyable, useful, and beautiful, and have worked hard to see them this way despite many people telling me in one way or another that I am bad and shameful for having to do these things. I see no contradiction here, and I refuse to be all somber and distressed about doing these things just to make it clear that they’re more than pointless frivolities.