What it’s like living with a rare illness

It’s rare disease day on the 28th February. My rare disease is adrenal insufficiency, where my body doesn’t make enough of the hormone, cortisol, which everyone needs to keep alive. It’s more common now, but when I first got diagnosed I was kind of left to my own devices and got told the wrong name for it for a while (!)

I’ve been thinking about what it’s like having a rare disease. I’ve been trying to work out what the worst thing about having a rare disease is. For me, I think it’s the pressure of it. The mental load.

Chronic illness burnout is a thing. Some chronic illnesses like mine or diabetes require constant monitoring, adjusting and treatment. Your entire life revolves around it because it has to- if you don’t pay attention properly, you could die. But unlike diabetes which is well known among healthcare professionals (or it should be), when your condition is rare, *you* are responsible for keeping yourself alive. It’s a lot of pressure.

You work this out really early on after diagnosis, usually after someone has almost killed you. Not necessarily because they weren’t trying to be a decent medic, but because they just didn’t know what they were doing. You can’t blame them though, because doctors can’t possibly know everything about every illness. But it means you have to become your own expect quickly.

I’ve been trying to think about how to explain the exact feeling this pressure is for a few days now, and the best way I can think of is a term I’ve come across in training my dog to be an assistance dog- “intelligent disobedience”. Assistance dogs have to be super disciplined, but they have to have skills of intelligent disobedience. They have to follow the rules *except* when doing so would cause harm for their handler. Eg a blind person teaches their dog to always take them on the pavement. But if there’s an obstacle, they might have to guide them on the road. They have to use their intelligent disobedience skills to decide what’s best for their handler at the time, whether they should break the rules or not.

It’s like that with me. I have to follow rules to survive. Good patients take their meds, eat their prescribed diet, do exercise, follow what their doctors say. Except rare disease patients have to have intelligent disobedience- if I’d done all that the way my doctors told me to, I’d have died. Fact. There have been way too many times where doing what a doctor said would have meant I would have died. One of my stock phrases that I use quite a lot is “if we do it your way, I might die. If we do it my way, I’ll definitely survive. How confident are you?” I have to show intelligent disobedience and decide which doctors to ignore and which ones to agree with.

*That’s* the stressful thing. Knowing when to fight, how to fight and why to fight. You’ve got to know how to approach different people in different ways in order to get what you need. You’ve got to keep constantly up to date with the current research and have encyclopaedic knowledge of your symptoms, test results, and any patterns you’ve noticed so you know why to argue or ask questions. It’s constant. And on top of that, if it does go wrong, it’s pretty much all your fault, even though you have zero medical training.

So what’s good about having a rare illness rather than a “boring normal” one? People might not remember you, but they remember your illness. Every time you walk into a hospital, you’re trail blazing. You can have a huge impact on treatment of other illnesses. Did you know that endocrinologists and their knowledge of how steroids and cortisol work in the body were crucial in the development of treatment protocols for covid? Patients with adrenal insufficiency helped with that.

The mental load of having a rare illness is huge. It’s all consuming and massively time consuming. But with that burden comes a power to have some kind of influence on future generations. I figure if I have to have a life threatening, debilitating condition, I may as well have a rare one one where I can have a positive impact somehow 🙂