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?

Things at Autism Events that Make Me Uncomfortable

This post is inspired by an Autism Speaks walk & an Autism Society of Oregon "adult" conference several years ago).

-Parents with adult offspring talking for and about them while they stand right there mortified.

-Obviously sensory unfriendly surroundings (loud thuddy music? really?)

-Cognitive dissonance on full display--Lee Grossman & other CEOs who talk about 'these kids' at events ostensibly about adults? I'm looking at you.

-Being the only person to call people on their bullshit.

-Being scolded for this.

-Being thanked privately for this. What the fuck.

-The double standard for autistics & allistics.

-Grossly inappropriate cure the kids! talks at 'adult' conferences.

-Erasing of adults who are likely to be pushed into the cracks (you know, those of us who speak & can make you think we know things).

-Assumption that we have Ability A because we can do Task X.

-Being expected to be a universal translator.

-Being erased because I'm cute, female, and athletic.

-Parent-centered everything.

-Being hit on. A lot. Persistently. When I say not interested. Ad nauseum.

-Scaremongering, from anyone.

-The looks I get for taking care of my sensory needs.

-Being talked to like a toddler.

-Allistic professionals' continued insistence that their Unethical Treatment is ok & browbeating me to try to get me to agree.

-The continued pressure to cede my voice in autism issues because as an autistic person I clearly don't know what I need or want.

This was initially written in 2010. The only thing that has changed is Lee Grossman isn't still the CEO of Autism Society.

"You're a skilled archer. Why do you have a stalker?"

Content notes: this discusses stalking & other boundary violations. It also discusses systemic issues that allow that. There are pictures, including a picture of a vaguely torso shaped thing with arrows in. 

This week has been weird and basically the last semi-normal thing I remember from this weekend is being asked the title question on Saturday morning, so I am going to give context. And then I am going to answer said question.

Context the first:

I brought this target to archery, like one does, because I'd just heard from a long time very unwanted internet harasser. Again.

It's the initials of said long time very unwanted internet harasser, with my editorial comments, including the words "creepy sad little stalker".

So. Then the question was asked: "you're a skilled archer. Why do you have a stalker?"

This is my blog! Let me tell you why! (general you. You, the reader. Assuming you don't already know why).

The flip answer is "because I live in Oregon. Stalker lives in Florida. No one is that skilled" but there's also actual a lot of systemic junk that matters in a serious conversation about such things.

This is going to need to start, again, with context, going back to when I was an unjaded, barely cynical little baby K just jumping into the world of advocacy. Back when I didn't think self advocate was patronizing and silencing. Back when I thought if I was smiley and adorable enough, people would suddenly see the humanity in me and in their kids.

Yes, really, this was an era that existed.

So. To understand why I have someone persistently contacting me even though I told him to fuck off, you need to know why he fucked on. Back in the early AOL days, when we were just kids--there's an 14 month age difference or so, and all the safety stuff back in the day was "make sure you aren't actually talking to a creepy adult who preys on kids." It was not "some of the boys you are friends with who are your age will grow up to be scary when you diverge in fundamental views." No one told me that. People to this day actively avoid telling girls that.

Way way back in the day, creepy sad little stalker and I were friends. He is autistic. I am autistic. We were exploring this whole world of autistic community and autism community. But our views started diverging pretty drastically; I grew into a hardline neurodiversity activist. He grew into someone who whines about how autism ruined his life and he wants a cure.

This is mutually incompatible, no? So I started withdrawing contact because I do not need in my life supposed friends who think that people like me are lesser. I don't really need friends who think they are lesser either. I didn't have the terms "spoons" or "emotional labor" then. I did have words for things like "I know you think we're destined to be together even though I don't understand your logic, but no we aren't not even a little" and "leave me alone" and "I'm not having this conversation" and "go away." I started pulling away, saying "leave me alone", at the turn of the century.

In 2005 creepy sad stalker crashed an actual line. While before that it had been a lot of "he makes me uncomfortable", for reasons I will get into later in this post that didn't really matter to anyone. Him showing up at the ASA 2005 conference with the stated goal of getting in my pants did. That is a line that most people will acknowledge is a line. Following me around trying to get me isolated? A line that more people notice.

(not entirely relevant but also not entirely irrelevant is that ASA 2005 was right at the beginning of my span of time spent very critically ill. So he was creeping on a tired, sick, dropping weight very fast K. That's relevant in the nuances, but not the big picture maybe?)

After that it was a big hard nope we cannot at all be even vaguely friendly. I spent an entire conference clinging to safe people because creepy sad stalker was making me feel unsafe. A couple times a year he still sends me an email that's a mix of "I'm sorry but here let me give you excuses and also say things that are meant to sound intimidating".

"You're a skilled archer. Why do you have a stalker?"

I think that about covers the how I picked up a stalker. As for the skilled archer part? I've known how to shoot forever, but in the late 90s and early 2000s that barely registered on "important parts of my identity". So even if my ability to hit things with projectiles was going to be a factor--and it probably wasn't--other things were much more prominent in the list of things that make me, me.

Skilled gymnast? Yes. Fearless advocate? Yep. Funny in the words? Yeah. Made of eyes and Princess Leia buns? Uhhuh. Great with kids? Sure. Weirdly flexible? Actually not so much because I didn't realize what normal was at the time. On the internet, the aspects of you that you find salient are how you are known, and "oh, I did horseback archery and stationary archery for a few summers" weren't ever part of the conversation. I was too busy flying, or telling people that no really your kid is fine, I promise, you better believe I'll babysit, behold, your kid adores me.

...some things never change. A lot of those things, really.

So now the question becomes "why do you still have a stalker?"

There's a lot of answers to that question.

First, because of the distance. Sad creep and I are on different coasts. Police forces have not heard of airplanes apparently. Indeed, their go to suggestion when people are being scary on the internet is "hang up your computer". Not to suggest that the offender should maybe leave people the fuck alone. No one wants to handle it. I have called this guy's parents--he's 30 and a bit--because of how many fucks police don't give. Not like his parents cared either, because he is made of excuses.

Second, let's be real here: there are gender issues (and race issues, though in my case they're largely intertwined--people expect super compliant lady stuff from me because of my race. That is not and has never been me). He sends me whiny pants messages about how his disabilities mean he can't not be a douche and wraps them around "and let me tell you how much I can bench or whatever because I decided to try to do a sport and oh let me say again that I can lift way however much". That's an intimidation tactic. It's also so accepted for men to do that no one cares. They tell me that maybe he's trying to impress me.

Whereas when I post a picture of the destroyed target, I have to be careful to not use one that could be taken as a threat. Men try to impress women, but women who can take care of themselves are threatening and scary, I guess? The natural order of things is that I'm scared of him? Turning it around by actually having skills, and advertising them, is not. If I was a dude, advertising would be fair warning, but since I am not, it's being threatening. Nevermind that he's the one sending me things that sound like intimidation. Not being intimidated is a bigger issue.

And then there's the thing no one wants to talk about:

We're both autistic. Now, people are quick to tell me that he can't be held to any standards at all because he's autistic. That he cannot understand that a very clear "fuck off, never talk to me again, I mean never, let me call your dad to explain it to you what 'never' means" message means exactly that. He has poor social skills, because autism. He's a lonely sad self pitying sack of crap because autism. He has fixated on me because autism. No expectations of decency or fucking right off allowed.

However, I am autistic too. And people expect me to coddle him because I should know what it's like. Because apparently I have magic angel powers or something. Because by not telling him to fuck off when I was 16 somehow I gave him an in to fixate on me until the end of time. Because he can be a creep, but defending myself is kicking a puppy. A puppy with adult skills I do not have, no less. But gender roles dictate that I should nurture him or be gentle or whatever. Then his not understanding gentle (or rude. Or ignoring. Or anything) is still my fault, because autistic women can't win.

So that's why I'm a skilled archer with a stalker. The archery is largely irrelevant except where using it could get me in big, terrible trouble. Society is set up to coddle his wee little feelings, to encourage him to be creepy and scary, particularly at people like me.