Tomorrow is International Rare Disease Day. Practically everything has a ‘day’ designed to promote awareness about illnesses or to generate fundraising, but Rare Disease Day is a bit different. Individually, people who have a rare disease are unlikely to come across another person who has the same illness as them unless they’re actively seeking them out. But collectively, there are hundreds of thousands of people who have hundreds of rare diseases. So it means that we get the chance to feel like we’re not like a human living with a pack of wolves and feel some kind of unity (I’ve been reading the Jungle Book- can you tell?!).
I actually have the more common version of a rare illness. Primary Adrenal Insufficiency/Addison’s Disease tends to be autoimmune and is very rare. Secondary Adrenal Insufficiency, which I have, is far more common. However my presentation of Adrenal Insufficiency doesn’t technically fit into the primary or secondary box neatly, basically because no one has come up with a term properly, despite the fact that it’s quite common (in comparison to Addison’s).
I read an article recently which talked about the importance of having peer support for people with cancer and how lots of cancer patients feel isolated and depressed and feel like their illness is unmanageable. But by reaching out to strangers on the internet, they found they were able to cope better and had a more positive outlook. Makes sense, doesn’t it? No one likes feeling like they’re doing something alone. But imagine typing your illness into Google in your language and not finding much support at all. Or being the one of ten people in the country who has your illness. Thankfully, I don’t have that experience, as there are other people like me in the UK and thousands of people who have it and speak English, but I read on a forum that one woman in Portugal with my illness has to go to Spain to see an endocrinologist because there isn’t anyone in Portugal who can treat her.
Rare Disease Day is not just about probability or statistics though. You hear people being told that they’ve got a 1% chance or one in a thousand chance (or whatever) of developing X condition. While that’s terrifying to be that one-in-a-Y person, it’s sometimes a small chance of developing a well known condition. The more well known the condition, the more treatment options, information and understanding are available to you. Rare disease patients are usually met with a blank look from doctors, either that or mass excitement that they’ve found someone who has that ‘thing’ they’ve only seen in their textbook so far! You get used to being a training tool for junior doctors.
Take asthma for example, which I also have. Asthma can kill, it can impact your daily life and when you get a normal illness it can flare up and cause further problems. The same for my SAI. But unlike my SAI, I can go to my doctor and say X,Y, Z are happening with my asthma, what are my options. In plural. There are usually a few choices. The doctor can do checks in the surgery. If one treatment plan doesn’t work, I can try a couple of others to find one that suits me. I don’t often go to my GP for my SAI because they don’t fully know what to do with me, and usually end up either ringing the hospital or sending me up there. So I manage it myself until I hit hospital stage. And my endo is the one who gives me my treatment plan, my GP can’t and won’t change it without his say so. But my SAI has a bigger impact on my daily life than my asthma does and it can kill me a lot easier than my asthma can. But because asthma is to do with airways and is common, it gets the red carpet treatment.
A lot of it is to do with money. Adrenal glands aren’t particularly cool and you can’t jazz them up. We get a lot of charity cold callers where we live and they’re usually cancer and heart related ones- most people will at least know someone with cancer or a heart condition if they don’t have it themselves. The last one I turned down subscribing to said to me ‘do you not want to help babies overcome their heart problems early and stand a chance at a better life?‘. Yes, of course I do, but if I paid everyone who guilted me I’d be really poor! Can you imagine me knocking on someone’s door and trying to put a one line guilt inducing sentence together? Everyone knows that heart equals serious medical condition, but most people can’t even point to where their adrenal gland is (me included)! It doesn’t mean I don’t have a serious medical condition though. I asked one volunteer to donate to my illness’s charity if i donated to theirs and they said ‘no because I’ve never heard of it’. That said, there are pretty common cancers which still don’t have much funding allocated to them, so rare diseases really don’t stand a chance!
Money means research. Research means better knowledge. Knowledge and awareness mean better treatment pathways and protocols. Awareness means doctors thinking creatively to come up with different treatment options. Different treatment options lead to a better quality of life. Right now I have the option between hydrocortisone and pred, both of which are steroid, and that’s pretty much it. My emergency injection requires assembling and measuring it out, whereas epipens, used by many, are far more simple to use. Treatments haven’t developed since the illness was discovered really. Whereas diabetic treatments have improved dramatically over a similar period of time.
However, Rare Disease Day isn’t all about banging our drums and making a noise about how we need more help. It’s actually something to be celebrated. Most people who have rare diseases spend years trying to get diagnosed and will usually get told their problems are all psychological at some point. So the fact that we got a diagnosis is something to be celebrated- we didn’t just die like we would have done in the past. Our bodies are clever things because despite the randomness of our illnesses, they still kept us alive. It means that one of our doctors didn’t give up on us and was determined to help us and did a great job. You have to have a pretty good sense of humour and a lot of resilience while having a rare disease because you come across a lot more obstacles in healthcare than for common illnesses. Every time we see new medics, we have the opportunity to educate someone about our illness. We’re not passive patients because we can’t afford to be, which means we learn to advocate for ourselves. I’ve made relationships with some people I’ve never met before online which I wouldn’t have done otherwise.
Rare Disease Day is about spreading awareness and trying to promote change but it’s also a chance for patients to feel a sense of community, even if we don’t all share the same rare disease.