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.”
“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.
You convey a lot of info with plain language, and it’s always a treat to read your work.
I’m so sorry you’ve had to gain all this knowledge, and I want to stuff it right into the middle of every med school curriculum ever.
Would you be willing to share the name of your neurologist? I live in New England and I have been having a difficult time finding a doctor as good as the one you are describing. If you feel that this question is too invasive and may result in a breech of your privacy, I understand.
Would you be willing to share the name of your neurologist? I lIve within the New England area and the current doctor I have now is not so great. I’m looking to find one as thorough as the one you describe. If you feel as if this question is too invasive and may impose upon your privacy I do understand and thank you for your consideration. Well wishes.
I’ m sorry, there’s no way I could share that information online. All I can say is that he’s very good at what he does, and I trust him. He’s also apparently handled a lot of cases where people were thought to have a psychiatric problem (but kept insisting there was something else wrong, and getting rebuffed by most doctors) and he found a neurologic problem instead. That’s why I was sent to him, because they knew he’d be thorough and wouldn’t be prejudiced by my psych history.
Oops, I didn’t mean to post that question twice. Thank you for taking the time to reply to me and again for sharing your experience with finding a good doctor. I’ve spent great deal of time and money trying to find a doctor that will truly listen. Your post has given me a new surge of optimism. I’m glad I stumbled upon your blog. I’d also like to I apologize for requesting that information from you. In retrospect it was incredibly inappropriate. I’m deeply embarrassed for even asking something like that. (I’d be grateful if you would delete them.)
I’m coming to this post very, very late because I found your blog and LOVED IT and I’ve been reading everything on it. So let me start with saying that I have a profound level of respect for you.
When I read this, I was taken aback by the lack of awareness your doctors seem to be showing about hypermobility syndrome though… have you gotten more answers about this yet?
The reason I’m asking is because when hypermobility syndrome (diagnosed with Beighton score) is combined with the appearance of any of the other symptoms you’re listing, that *is* the clinical definition of Ehlers Danlos Syndrome, Hypermobility Type. There are literally no other tests for it–that is the test. If you’ve passed the Beighton score and you have muscular weakness and gastroparesis (among other things), you should have been diagnosed with Ehlers Danlos Syndrome. Period. Like… it’s like you posted an X-ray of a broken bone and your doctors were saying “I don’t know what’s wrong–what does it mean when there appears to be a crack in your bone?”
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)
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)
<– every single thing on here is a common/possible symptom of Ehlers Danlos Syndrome (EDS). There's even an unknown link between Autistic Spectrum and EDS (but they have no idea WHY that is — but there are papers on it and people studying it).
EDS is when the body makes defective connective tissues. So all the organs that are made of connective tissue, and all the joints and so forth, are prone to failure, and the muscles get increasingly weak because they're doing the job of the connective tissue. Almost no one without EDS can pass the Beighton score test… and the majority of people with EDS have the issues you're describing with both poorly localized and also specific muscle failure. Trouble eye tracking is common, as is slow progression from needing a cane to needing a wheelchair.
The big problem is that doctors are dramatically under-educated about this. So the average time for diagnosis from onset of seeking help for physical symptoms is 23 years. The majority of people I've seen in my EDS groups found their diagnosis after meeting other people with EDS who recognized the symptoms.
Anyway, I know it's maybe not appropriate to go on someone's blog and say "I may know what you have, have you talked to your doctor about…." But someone changed my/our life by doing that, and after diagnosis my treatment was so much better.
Feel free to write to me if you have questions, or to take this post down if it's inappropriate.
Yeah, I’ve been diagnosed with hypermobility syndrome, it seems to run in my family, along with other parts of things that could be EDS (various prolapses, aortic aneurysm, etc). But since they’re still arguing over definitions and it hasn’t been the biggest part of my medical history, it’s sort of noted by my doctors that they don’t yet know whether HMS is just a form of EDS or not, nor whether I qualify for EDS diagnosis. I think the diagnosis may actually be more important for the sake of relatives than for me myself. But yes I’m aware it can cause a lot of these things. (But the congenital myasthenic syndrome — what we currently think the myasthenia gravis actually was, after doing genetic testing — would be separate from all that, I think. My genes show a specific protein that’s made differently in my body than in most people’s bodies. And other symptoms and responses to treatment match CMS (which is genetic) closer than they match MG (which is only rarely genetic). I have to say that was a surprise to some extent, just because CMS isn’t very common and they haven’t even studied enough families with my mutation to really know everything about how it works.)
But I’ve long suspected — as have doctors — that many of these things that seem like maybe six different diagnoses each, are actually one overarching condition causing the six sub-diagnoses. Sort of like if someone were diagnosed with hypermobility syndrome, skin problems, vascular problems, frequent dislocations, and prolapsed bladder, but nobody mentioned EDS or tied all of these things together. Which happens more than you’d think. I’ve also known a surprisingly large number of autistic people with diagnoses of hypermobility, EDS, or Marfan’s. Not sure what that means. (Tony Attwood uses hypermobility as one thing to screen for in figuring out whether to search further into an autism diagnosis for someone. I don’t like everything the guy says, but he has experience with such a large number of us that I wouldn’t be surprised if he was picking up on patterns there.)
I was personally only diagnosed with hypermobility when I saw a jaw specialist. He gave me a questionnaire. I skipped the part about long-term widespread joint pain — I was afraid once he learned it wasn’t arthritis I’d get the same crap I always had before. But when I got to his office, he asked me repeatedly orally, telling me it was very important that I answer that question. When he got a very meek “yes” out of me, he said “Okay, bend your thumb like this as far as you can… now bend your elbows backwards… etc.” And then, as I did all these things, he just said “You’re hypermobile!” He also discovered a birth defect in my jaw on a panoramic x-ray, and said my TMJ pain was from a combination of the socket (not the right word) of my skull being formed wrong so the ball (also not the right word) of my jaw couldn’t fully rest in it properly, her, and then hypermobility. But he did nothing to educate me about HMS or EDS, I had to do that on my own. (At the time, I just learned about HMS, thinking EDS would be more severe. But I eventually learned that there’s debate about whether or not HMS is a form of hypermobility-type EDS, and that even those who differentiated between the two, did so in ways that often had me falling on the EDS side of things (such as my frequent insensitivity to local anesthetics).)
So I don’t know — it’s just… complicated, and also I feel like EDS vs. HMS, there may be really important medical reasons to know whether HMS is EDS or not, but it also seems like it’s just words in a way, people have undoubtedly been misdiagnosed frequently in both directions.