8:36am June 22, 2015

Has this, or a similar study, ever been done?

I know that vaguely similar studies have been done with psychiatric conditions. But this would be specifically for physical conditions that can be easily confirmed if you do the right laboratory testing. The conditions may range from rare to common, but should not be, in and of themselves, highly controversial. (1) If they were highly controversial (whether real or quack-created, since both can be controversial for different reasons) that would mess up the experiment. If they were not able to be confirmed by laboratory testing, then that would mess up the experiment too.

So you’d have a bunch of patients go to a doctor’s office. The group you’re actually studying, would be patients who already have a legit diagnosis, through a combination of laboratory testing and symptom history, of at least one medical condition. I’m not sure how the control groups would be worked out, but someone with more brain than me could put this together.

Anyway, they would go in and tell their symptoms, and their histories, to these doctors. The doctors would of course not know whether the patient has been diagnosed, or with what. Then we’d see how many doctors dismissed the patients out of hand, and in what circumstances.

Circumstances I can think of that would be relevant: Being other-than-male, being a person of color, having an obvious developmental or psychiatric disability (or appearing as if you do), mentioning (or having it in a chart written up specifically for the purposes of the experiments) not being believed by other doctors, being poor, not speaking English well or speaking with a thick accent, being unable to speak at all.

And that’s just off the top of my head. Specific variants of the experiment could be created to test those things out. And I know that many of those things have been tested. The thing that’s especially relevant about this particular experiment, however, is restricting it to people who could be easily diagnosed on the basis of a blood test, a brain scan, or something along those lines. Because that makes it especially appalling when you see that a doctor has not bothered to even think in the general direction of said tests. Or has refused to do any testing at all. (Maybe there could even be a variant where, if a doctor doesn’t mention wanting to do any testing, the patient could say “an old doctor had suggested I get Test X done, what do you think?” and see what happens.)

At any rate, I’d love to see a truly complex set of experiments designed to show under what circumstances doctors are and are not willing to:

1. Test patients for conditions that fit the symptoms they are describing.

2. Acknowledge that a patient may have two or more (still easily testable) conditions causing their symptoms, rather than one condition that explains everything.

3. Run more than one test for a condition if one of the tests comes back negative. (2)

4. Delegate diagnosis, or parts of diagnosis, to competent specialists where necessary.

5. Continue to take patients seriously even if they haven’t guessed at the right diagnosis yet. (As in, not write off patients as “hysterical” the moment they can’t figure it out.)

All of these are things doctors should be doing with any of their patients, but my own experiences and the experiences of many other people with long-term chronic illness, especially relatively rare (or simply not well-known) diagnoses, do not bear out that these things are consistently happening for us, even when the stakes are life and death. It pissed me off enough that it was happening to me, but watching it happen to family members and friends pissed me off even more. And I’d love to see what circumstances make doctors take us more and less seriously when showing the exact same damn symptoms. (And I’d love to see the study done on people who are already known to have the conditions, and the laboratory testing that goes with them, so that when a doctor orders tests, they’re getting back genuine results that they then have to think over and make decisions about.)

Oh and all links to medical information in this post are at the Mayo Clinic website, because while I don’t think they’re infallible (and I know in certain areas they can be just as messed up as other medical establishments), they’re generally consistently better at understanding complex, not-well-known, and rare disorders than the average website is. I was very happy when I found out my mom was going there, because I knew that even if they couldn’t find anything or treated her badly, at least they wouldn’t be leading her in the direction of quackery. And also I knew that any results she got from there, would be taken way more seriously by my own doctors treating me for similar symptoms, than if she were just going to her random local doctor.

She and I have, despite having diseases that turned out to be very easily testable when the right tests were done, been put through an unimaginable array of bullshit by the medical profession (as well as by laypeople who Don’t Get It in a huge way) before finally getting diagnosed (and sometimes after as well… she wouldn’t have coded in the ICU last year if they’d listened to her about needing a bipap in order to breathe).

Things are even worse for people with diseases that don’t have names yet, or aren’t yet separated out from generic garbage-pail diagnoses, or don’t have lab tests yet that can confirm or deny the presence of any particular disease.

And believe me they’re bad enough even if you have things that can be tested easily once you know the right test to do. (And wow are tests nervewracking under these circumstances… you don’t want the test to show that you have something awful that’s going to kill you before your time, and yet you don’t want the test to come up totally negative and leave you back at square one with some really bad doctor saying “See, that one test came back negative so you can’t possibly have anything related to Disease X.”) I also notice that things get complicated when you have more than one disease that cause overlapping symptoms (or symptoms that seem to overlap if you don’t understand you’re looking at two or more diseases with slightly different symptoms). Because doctors like things neat and tidy, so they like to have one disease they can trace back other diseases to.

I’ve taken to answering “What is your primary medical condition?” with “Are you actually serious?”

TL;DR: I’d like to see a study that studies how doctors decide what testing to do, and how much testing to do, and what to do with the results of testing, on people who have a seemingly undiagnosed condition – but one that (unbeknownst to the doctors in question) is already diagnosed and can be diagnosed easily using laboratory testing if they only guess the right tests to do, and when to give up a line of inquiry, and when not to give up, and etc. I’d like to see who gets discriminated against the worst in these scenarios, I have my guesses but I’d like to see.

(1) When I say highly controversial, I mean diagnoses like adrenal fatigue, which was literally made up so that quacks could give people a fancy-sounding diagnosis that sounds legit without being legit. Note that I’m not one of those people who is saying “People who’re diagnosed with adrenal fatigue are hysterical and should go home and stop paying attention to their bodies so much.” Far from it: My biggest fear in diagnoses like adrenal fatigue is that people could have a serious problem, even a life-threatening one – maybe even actual adrenal insufficiency – and they’re being led up the garden path by someone who is making no effort to find out what they really have. Meanwhile a false diagnosis with a name so similar to a real diagnosis makes it hard for those of us with the real diagnosis to be believed when we say we have it.

Some people have tried to tell me that adrenal insufficiency is a “controversial diagnosis” because of its mis-association with adrenal fatigue by quacks who know exactly what they’re doing by muddying the waters.

But adrenal insufficiency is actually a solid, well-known diagnosis, easily tested for in most cases, that isn’t in the least bit controversial when diagnosis follows the standard diagnostic protocol. I was for instance diagnosed by a combination of blood cortisol tests, blood ACTH tests, and an ACTH stimulation test. That last test is known as the gold standard for testing for adrenal insufficiency. I was diagnosed with severe secondary adrenal insufficiency.

So adrenal fatigue is controversial, and adrenal insufficiency generally isn’t. Except when deliberately misdiagnosed by quacks who have learned that because it is not controversial then saying “adrenal insufficiency” or “mild adrenal insufficiency” is a good way for them to sound more credible with their patients than “adrenal fatigue” does. Quacks also do tests – often tying up hospital labs who have other tests they need to be doing – that can turn up artificially abnormal-looking results because they simply aren’t tests that apply to adrenal insufficiency, but they look like they could, if you don’t know what you’re looking at.

I’d also like to say that just because a diagnosis is controversial doesn’t mean it’s not legit. Adrenal fatigue is both controversial and not legit at all. But there are other diagnoses that are, as far as anyone knows, quite real, but are controversial because they are new and biological markers have not been found (or not been fully accepted and replicated scientifically) yet.

The reason I would say this study shouldn’t involve truly controversial diagnoses of either kind is because including such diagnoses would potentially screw up the results. In order for such a study to work, the diagnosis in question, in the person in question, has to be something that can be easily confirmed with diagnostic testing, in a way that leaves no doubt as to what the condition actually is. Hence, it has to be both non-controversial and testable.

(2) This is also taken from my personal experience. We suspected myasthenia gravis as a factor, very early on in my health collapse six or seven odd years ago. However, I was given one antibody test and when that was negative, it was not revisited until years later. The only reason it was revisited at all was because my mom was being seen at the Mayo Clinic for similar symptoms, and had done exceptonally well on Mestinon, a drug that pretty much only treats myasthenia. I still tested negative on just about every test in the book. They finally pulled out their most sensitive test for it, a single-fiber EMG, and lo and behold I tested positive. Moreover, so did my mother, finally, on the same exact test. So generations after my grandmother was diagnosed as having a nervous breakdown for what was probably an episode of myasthenia gravis in her twenties (but she was poor and female and stressed due to her husband being off to war, so, “nervous breakdown”), we finally got an answer as to the causes of muscle weakness in our family.

But I would still lack a formal diagnosis, and in lacking one be at risk of dying, if it weren’t for the fact that my neurologist was thorough enough to do every single test in existence for myasthenia. Rather than stopping at the first negative test. There are many conditions like this, where a person may test negative on some tests for the condition and positive on others. In my case, one possible reason for testing negative on antibodies is that they’re pretty sure that the antibodies they know about for MG are only the tip of the iceberg. Another reason for testing negative is that often when myasthenia is hereditary, there are no antibodies to test for in the first place.

(It used to be they thought there were two types of myasthenia – myasthenia gravis (autoimmune) and hereditary myasthenia (congenital). Now it’s gotten even more confusing because they’ve found autoimmune forms that run in families. Which makes sense to me, since other autoimmune diseases such as Hashimoto’s Disease run in my family.)