Rare Disease Day: on having something most doctors are unaware of

It's rare disease day (haaaa aren't they funny, putting it on leap day?) so today I'm going to talk about getting diagnosed with what is probably my rarest cootie.

I write a lot about autism & epilepsy. I have other stuff too because fuck me that's why. The hardest one to get diagnosed is also the most quickly life threatening (though the easiest to treat, for me): tertiary adrenal insufficiency.

What that means? Is that my hypothalamus does not send the signal to my pituitary to send the signal to my adrenal glands to release cortisol. The body does not release cortisol, which is necessary to maintaining homeostasis, without ACTH, released from the pituitary. The pituitary does not release ACTH without being told to via a burst of CRH from the hypothalamus. Make sense?

Here's the thing: it is also really fucking uncommon (especially without lesions in the brain. I have zero explanatory lesions in my brain) and has nonspecific symptoms. This made a diagnosis extremely hard to get.

Let us flash back to 2005. I competed my last trampoline & tumbling meet in March of 2005, because of the onset of some frightening symptoms. Everything (literally everything) hurt. I was running out of energy. Sleeping a lot, but my sleep schedule was backwards. Tired. Dropping massive amounts of weight. Did I mention I hurt everywhere? Very pale, by my standards. Fainting. An uptick in seizure activity. At one point, the world's actual worst headache (and this is coming from someone with cluster headaches; it is still the worst headache I have ever experienced). So, nonspecific signs of 90% of illnesses everywhere, right?

First they decided I was sick.  They gave me a strong antibiotic for an infection that I think I did actually have. But people with Ehlers-Danlos Syndrome should not take ciprofloxin. That was a mess. Everything hurt even more. More seizures. I could not stand up because of the joint pain, which did not relent for almost a year.

Then they tested me for autoimmune diseases. Everything came back within normal limits except the inflammation marker, which was lower than expected (which actually isn't consistent with not making cortisol but whatever, bodies gunna body) and anti double stranded DNA. The rheumatoid factor and the ANA were both normal, & that's what they were really looking at. I did not appear to have an autoimmune disease.

I had to move because I was going to literally die living alone, and moving meant different doctors. While waiting the several months for a general practitioner, I ended up in the emergency room several times with severe unrelenting pain in my middle and my joints, as well as seizure injuries--rather than my usual partial complex seizures, I was also having atonic and tonic clonic seizures. Falls are dangerous. Consistently my vital signs were low, my electrolytes were a bit off, and they decided that it was a side effect of my medication or that I was full of shit. Because I was young, female presenting, on meds, and having a blood work profile they'd never seen that must be the issue.

As my body continued to be deprived of cortisol, and its homeostasis regulating effects, I got sicker. I was barely more than half my current weight at one point--I am pretty healthy looking now. Everything hurt. I was throwing up. I was not digesting the food I kept down. I'd only get out of bed to pee for weeks at a time, & most clothing hurt. I was able to bathe maybe once a week, & I had anxiety and was both always tired & never sleepy.

When I finally got in with the general practitioner I thought she might be useful. She...was the opposite of useful. First she suggested I had a virus; I had not left my place to be exposed to anything in literally 6 months, though I had been possibly exposed to West Nile (that world's worst headache? A more competent doctor who did antibody tests suggested that it was West Nile Encephalitis. And possibly causal of the AI but possibly not). She "does not want to hear that" and told me I was just depressed. I am no fan of minimizing depression. I am also not a fan of telling someone that they dropped 50 pounds and hurt everywhere and everything they love is gone because of it. Other way around, Doctor Useless. I'm depressed because my body has betrayed me and I can do nothing I love.

Doctor Useless talked about scheduling me for a colonoscopy because of the weight loss. Okay whatever. In the meantime I found self pay specialists (did I mention? I live in the US. I was uninsured as shit because Medicaid was only for people actually on SSI, children, & pregnant people. I was none of these things; getting on SSI takes forever).

When your doctor is this useless, and you are going to go over their head and go to specialists, you are required to self diagnose basically. Since the GP in my hometown had been exploring autoimmune options, I presented myself to a rheumatologist first. My main symptoms were still pain and fatigue (pain everywhere. My ribs hurt too much to breathe if I laid down) and the hometown doctor had waffled about with how the blood work might not have changed enough for diagnosis yet since I had been in good shape when I got sick. I also had persistent skin photosensitivity, which was a marked change from my baseline and is a symptom of lupus. So I went to the rheumatologist.

This was my first experience with going into honest to goddess shock. They confirmed that I am hyper mobile (as though that was ever in doubt) and did a bunch of blood draws. Almost 20 vials. They did the regular stuff, every autoimmune panel known to man, heavy metals & a couple other toxins, and nutrient profiles. Rather than my usual light headedness with the blood draw, I hit the floor, had a seizure, couldn't stop shivering. They had to keep me for observation for several hours.

The only suspicious things on that whole panel were slightly elevated metals, of all things, and reduced levels of several nutrients. They said my body would clear itself out on its own (accurate. I had been living in a condemnable place with metals in the paint & pipes less than a year before) and that I needed to take dietary supplements or eat better. The rheumatologist did not think either of these things was actually causal for my symptoms but did not know where to send me.

Here's the thing about having nonspecific but severe symptoms that no one can explain: it's real easy to fall down the quackery rabbit hole. Everywhere I turned, someone wanted to sell me detoxes or supplements or super foods or fancy diets. Since I actually knew what my numbers were for "toxins" (elevated but not going to kill me, nor enough to explain the duration & severity of symptoms, also the timing was wrong), and for reasons of other people in the household I was eating a diet clear of the popular dietary "toxins" anyway, I did not fall prey to these as easily as many people can. But the desperation makes sense. All you want is an answer & to feel better.

While searching for the next specialist I had another appointment with Doctor Useless. I had lost more weight, though really I was at the point where that should be impossible. I also had an extended EEG, where they caught a bunch of weird but nothing that was explicitly "we can cut this out". I threw up every day that I was in the hospital and had no blood pressure and didn't sleep and it was miserable. Never again. Doctor Useless again expressed her opinion that I had a virus or depression or yes, and tried again with the colonoscopy. That the clinic is slow is what kept me from dying on a colonoscopy table--that is a procedure that people with all the adrenal insufficiency diagnoses need stress dose steroids for.

In February of 2006, almost a year exactly after my sudden downward spiral, I got in to see an endocrinologist. He took one look at me, literally one look, and asked if I had ever been on prednisone? Did it make you feel better? I had not at that time. I did not have an answer. He sent me immediately for an ACTH stim test and blood draws on all hormones, especially ACTH and cortisol.

For an ACTH stim test, they take blood to measure your baseline level of cortisol. Then they inject you with synthetic ACTH. At 30 and 60 minute intervals they measure your cortisol again. About 15 minutes after the injection was the best I had felt in an entire year. I could skip, a short distance (muscle atrophy is a thing). I was awake. I was hungry. The perpetual nausea was gone. Everything I had read said that adrenal insufficiency was rare, but it seemed that it might be my answer, or the most disappointing placebo effect on earth.

The next morning I got a call from the endocrinologist with the good news: I had central adrenal insufficiency. Not Addison's, I would make cortisol just fine if the signal was sent, but it is not. He asked for my pharmacy information so I could start prednisone right away (now I take hydrocortisone, which is bioidentical with cortisol, but prednisone has a longer half-life and I was really sick so once a day dosing made sense. I think that was the rationale). I was also prescribed an injectable steroid that I would have to use if I couldn't keep pills down or got an acute significant injury.

Starting steroids was sort of a miracle, except the part where I will now spend the rest of my life explaining why I am on steroids. I take a physiologic dose of a stigmatized class of medications. It is exactly the same amount a person of my size and activity level would release. And yet I constantly have to explain that. Since I switched from prednisone to hydrocortisone, I am no longer immunosuppressed--my pred dose was just high enough to dampen things a bit. I am not on anywhere near enough for any of the rage or depression or other side effects like that, because I am on the same amount most people just produce on their own. No, I do not want to stop taking it, I like being able to live my life. The bruising is not because of steroid toxicity, it is because I am an extremely active person with a connective tissue disease. Yes, I have put on a buttload of weight since starting the steroids. Because I was substantially underweight and run mesomorphic. It's a good thing, really it is.

I'm no longer photosensitive, and I am Hapa, so my skin tone does run on the darker side of pale or the lighter side of medium and with very warm undertones, so at least once a year I get asked if I am sure it isn't Addison's (yes. Stop being racist. My skin has always looked like that except when I was too sick to move). No one was using my emergency injectable steroid, so they discontinued it. The pharmacy didn't know how to use the new one, so some day that's going to be exciting. Everywhere I look people are talking about the evils of cortisol. Which, like, fuck you. I almost died because I don't release that. But you people don't even know that's a possibility or what it actually does.

I've had a number of surgeries and had to explain to them patiently that they need to give me extra steroids or I will go from just fine to flatline the moment I feel anything. They almost didn't with my last surgery, but damn were they glad they did because upon awakening my body did some wild stuff. I've had some very scary times in emergency rooms with my heart rate below 50 and my blood pressure too low to accurately measure, where doctors just kind of unplug the yelling machine because they don't really care that someone multiply disabled & being very passive is going into quiet cardiovascular collapse in their hospital. They have never seen adrenal crisis so the obvious solution is to pretend it doesn't exist. It's a very quiet crisis.

I also deal with doctors who mishear that I said I have "tertiary adrenal insufficiency" as "I am a vaguely tired conventionally attractive woman who thinks I have adrenal fatigue". This is on the list of possible causes of death. Adrenal fatigue is not real but it is a trendy naturopathic diagnosis, and I live where naturopaths are taken a bit too seriously. Adrenal insufficiency is real. And it can be fatal. But they have heard more of the former than the latter, so they use their "hysterical woman" voice rather than their "I don't know what that is, we talked about it for 90 seconds in med school if that" voice. So that's exciting, ones rare disease being co opted as an explanation for why people feel crap. I'm not ok with that.

So. That's being diagnosed with a rare disease. It isn't like House at all. They look for other reasons even if they don't fit. They are uncomfortable with your treatment. You have to basically diagnose yourself first. You spend the rest of your damn life explaining it. And your meds get discontinued for lack of popularity.

Happy rare disease day?