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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They should do all assistive technology this way.

I just finally got my resized ring splints (finger splints), and they don’t look like splints at all. Several people online have asked me to show them and talk about what they’re like in case they or their kids need them, so I’m including pictures and discussing them and their use here.

Here’s the view from the back of my hands, where they look like rings:

And here’s the view from the palms of my hands, where you can see how they connect together:

What’s the point of this?

Among other things, handwriting can often be difficult for people who have joint hypermobility. (Here’s the webpage of the hypermobility syndrome association.) That’s when joints bend further than they normally do. The most common cause is benign joint hypermobility syndrome (my diagnosis) which is extremely common, especially among women, and it runs in my family. But there are also several rarer syndromes like Marfan’s and Ehlers-Danlos that have it as one of their traits (and there’s some debate as to whether BJHS is a very mild version of one of those or something separate). A lot of people don’t know they have it unless they have an extremely severe form, although even some people with the rarer and more severe problems don’t get diagnosed easily. There’s a fairly easy way to test yourself to see if you should get checked out for it, which is this test (in which I get either a 7 or 8 out of 9 — but be aware it’s possible to do it wrong if you have perceptual problems, the first time I saw such a test I thought I scored lower than a doctor and PT scored me as; also be aware that if you have various other symptoms (especially widespread joint pain or dislocations), or if a close relative does, you can still sometimes be diagnosed with BJHS with a score between 1 and 3, so best to check with someone who knows what they’re doing.

I don’t know if it’s true or not that autistic people are more likely to have loose joints like this. Tony Attwood claims it is (note that when he says “Asperger’s” he’s often including examples of other autistic people without that label):

One of the movement disturbances associated with Asperger’s syndrome is lax joints (Tantam, Evered and Hersov 1990). We do not know if this is a structural abnormality or due to low muscle tone, but the autobiography of David Miedzianik describes how:

At infant school I can seem to remember playing a lot of games and them learning us to write. They used to tell me off a lot for holding my pen wrong at infant and primary school. I still don’t hold my pen very good to this day, so my handwriting has never been good. I think a lot of the reason why I hold my pen badly is that the joints of my finger tips are double jointed and I can bend my fingers right back. (Miedzianik 1986, p. 4)

Should problems occur from lax joints or immature or unusual grasp, then the child may be referred to an occupational therapist or physiotherapist for assessment and remedial activities. This should be a priority with a young child, since so much school work requires the use of a pencil or pen.

(That’s from page 263 of The Complete Guide to Asperger’s Syndrome by Tony Attwood.)

So, I’d always thought I was “just” dysgraphic in school. I was always having my grip corrected and my only way to produce neat handwriting was to eventually learn to ignore severe pain in my hand. I had one set of people try to help me grip it better in elementary school, and another set of people while I was in college, but nobody did an assessment of my flexibility levels. Then after diagnosis with hypermobility last year, all this stuff started to make sense.

So, what these splints do, is they make it impossible for joints to hyperextend (extend beyond their normal limits), or at least to do so very much. Here’s my finger being bent without a splint:

And here’s the same finger being bent with the same amount of force, but with a splint:

You can see that in one picture the joint bends backwards a lot and in the other one it doesn’t.

This also makes a difference in handwriting. Here’s one of my versions of a grip on a pen without a splint (sometimes I use 3 fingers to stabilize things, sometimes 2, but same result):

It hurts just to hold a pen like that for less than a minute.

And here’s my grip on a pen with the splint:

So there’s a big difference there.

And the difference it’s making for me is less pain while handwriting, less pain while typing, less pain in general. The actual bending itself doesn’t directly cause the pain. What does cause pain is the constantly having to press harder and further on everything because if I press more lightly my fingers just bend back instead of accomplishing whatever they’re supposed to accomplish. (This is why people with hypermobile fingers are usually slower at playing certain musical instruments, there’s a finite rate at which we can press because it takes us longer.) And having them bent backwards like that in the long term doesn’t do any favors to my joints either.

Which is why I’d say, if your kid is having trouble with handwriting, please get them checked for this. I’ve talked to way too many people who are parents, or who know parents, with kids with handwriting problems, and I ask if the kids are super-flexible, and they say yes. But they rarely connect the two on their own, and neither do the schools.

I wish I’d had them when I was seven years old and struggling to handwrite only to be accused of not trying when my hand gave out, and having even my odd (they called it ‘immature’) grip seen as a behavioral problem rather than a physical one. I really believed that ‘not trying’ thing, too, since I had no sense of what was and wasn’t normal pain-wise. So I eventually learned to ‘try’, which meant, mask pain to the best of my ability and keep writing, and I finally got neat handwriting five or six years later (and in fact got so skilled I could write in several different handwritings, forwards and backwards, because of how hard I was working). But that hasn’t entirely lasted as I’ve gotten more body awareness than I used to have, as well as more of a sense of how much pain is too much to ignore.

When I tried handwriting in the occupational therapist’s office today, I kept waiting for the pain and it didn’t happen. I’m not sure thumb-related pain will fully go away (see below), but I didn’t experience it today. And I certainly didn’t experience the general hand pain I normally do that probably comes from stress on the things that do all the moving things in the joints (I don’t know all the words for these things).

Here are the splints off my fingers by the way:

The big one with the chain attached is a thumb splint. The other two are two kinds of finger splints: One to prevent mild-moderate hyperextension and the other — the one with the little round spacer thing in between the two rings — to prevent severe hyperextension. I’ve got the mild-moderate ones on my pinkies and middle fingers, and the severe ones on my pointer and ring fingers.

The one thing the occupational therapist said these things could not do, is fully stabilize the base of my thumbs, or stabilize at all the base of my pointer fingers, which are my two loosest sets of fingers. She said it’s just not capable of that level of support and I’ll have to try something else if I want more support than I’ve got on those.

I’ve also got less pain typing. Normally there’s a sort of sharp pain that starts in my wrists or hands and shoots into my fingers, very similar to what walking without ankle braces does to my legs. And that’s gone as well as far as I can tell.

Anyway, what I was thinking when I got these, is they should do all assistive technology this way. These aren’t just functional, they’re also pretty. (And for people who can afford it, they even make versions with stones set in them and stuff.) A lot of assistive technology gets hung up on looking like it crawled out of a hospital or something. These splints are taken by most people as just jewelry. (I’ve been wearing the pinky ones for a month now while waiting for the rest to be resized.) My mom said when I got these I’d end up looking like a hippie, but oh well, it wouldn’t be the first time. :)

I know there’s been some progress in making other assistive technology attractive, but it hasn’t come as far as these splints have for the most part.

(To find people who make splints like these, there’s Silver Ring Splints in America and Silver Splints in Scandinavia, the Netherlands, and apparently the rest of Europe too. There’s also a plastic kind that are cheaper but also less comfortable and don’t fit as well, and then another plastic kind that’s custom-made that I saw on a mother’s blog for a hypermobile kid who had cute little multicolored and obviously customized plastic ones. I’ve also heard that you can replace the bracelets that hold the thumb splints on with your own custom ones, so I’m thinking about doing that. Also, many of these companies will also make them in gold if you’re allergic to silver.)

The interesting thing to me, also, is that assistive technology likely to be used by non-disabled people (which is to say, most assistive technology, of the sort that isn’t normally singled out as assistive even though it is) is often already made with aesthetic considerations in mind, whereas assistive technology for disabled people (the kind that is normally singled out as assistive) generally isn’t. Since, of course, assistive technology primarily used by non-disabled people isn’t singled out as medical, and since, of course, medical seems to mean uncomfortable and ugly a lot of the time when it comes to equipment.

And, basically, if you have the means to get any splint that works this way for you or someone you know who needs it, you should try. It has been worth both the wait (since February, and a longer wait than usual because I had to send most of them back to the company for resizing) and the hassle. I’ve been letting anyone know who seems to have hypermobile joints (which is a lot of women I run into and a few guys, including a staff person who described getting out of class in high school by popping his thumb out and claiming it was broken), almost all have been interested, and almost none have ever heard of this as a potential cause for their joint problems or handwriting problems. Same with parents I talk to whose kids have this problem, they’ve often never heard of it (or of any solutions for it) even if the school is kicking up a major fuss over things like handwriting and even if the kid is really obviously flexible. So anyone who might run into someone in this situation, keep that in the back of your head, because doing something about it can save a lot of headaches (or, I guess, hand-aches).