There are lots of these special ‘days’ – Talk Like a Pirate Day (19th Sept), Hairstyle Appreciation Day (30th April) and National Sandwich Day (3rd Nov) but a really important day for me is Rare Disease Day, which is today.
A disease is defined as a condition that’s abnormal, and affects the body of a living being.
Here are some facts about rare diseases:
- There are over 6000 rare diseases
- A disease is classed as rare if it impacts fewer than 1 in 2000 people
- 30 million people live with a rare disease in Europe
- 80% of rare conditions have a genetic origin
I have Ehlers-Danlos Syndrome, a genetic connective tissue disorder.
There are various types of the condition and the most common type is estimated to impact anywhere from 1 in 5000 to 1 in 10,000 and the least common types have only been diagnosed with a small handful of people.
Rare diseases are neglected – in research, care, NHS services and provision of medical expertise. There is a lack of understanding and awareness in every part of the medical community. But rare doesn’t mean we don’t matter.
While I had mild symptoms from birth, the real trouble started when I was 15 – and it took me another eight and a half years to be able to put a name to my pain, fatigue and countless other symptoms. I’m lucky – many others don’t get diagnosed at all. That’s why recognition is vitally important.
Many seeking answers are instead labelled incorrectly. The word hypochondriac sneaks into their medical notes. They’re told their attitude is too negative, or point-blank informed it’s all in their heads. People with the condition usually look perfectly healthy, which makes it even easier to get dismissed.
Some people don’t live long enough to have the reassurance of knowing they were completely right, and there was a reason they felt the way they do like in this awful story.
Once I knew what was wrong with me, it changed everything. I was able to look for the national charities, find other sufferers and do copious amounts of research. Everyone should be able to do that – and from as near to birth as possible. Simple changes like strengthening your muscles before they become locked in a cycle of spasms, wearing orthotics to protect flat feet and looking out for the myriad of complications that can arise from the condition can make a big difference.
Awareness for rare conditions isn’t the same as for many other conditions. To me it can be summed up in the conversation that usually goes,
“So what’s wrong with you?”
And the response is a blank face.
I don’t expect people to know specifics – but if you said to someone you had MS, they’d probably at least gather it’s quite debilitating without having to try to explain further.
While that may not feel so bad – imagine that lack of recognition continues with your GP, your rheumatologist, physiotherapist – the people meant to be supporting your care, as well as everyone else. You have to spell the words out to them carefully, and they promise they’ll look it up – but yet the next time you see them they’re none the wiser, and you know they forgot to pop it into google. We deserve better, and it makes you feel very alone.
When I was diagnosed I spent an hour with the specialist consultant. He was the first person who nodded when I mentioned symptoms, and pointed out a lot I hadn’t even realised were significant. He literally started from when I was born onwards, and put together a pattern that led to my diagnosis.
However, an hour isn’t enough -not when you’ve just been diagnosed with a condition that impacts 95% of your entire body. Every organ, every joint. No one talked me through the heart issues, the gastrointestinal problems, bladder, muscle tone, nervous system, eye sight, breathing issues , and the terrible sleeping problems. No one told me that while you’re given a ‘type’ within the condition – there’s lots of overlap, and it’s mostly just guess work.
To this day I’m still finding new information, and putting facts together – and I usually find that out from other people with the condition, not a medical professional.
So this is what I want from Rare Disease Day…
I want every medical professional to have a brief understanding of the condition, and realise it’s only rare because they aren’t spotting all the undiagnosed people with it. Professor Grahame, a Ehlers-Danlos Syndrome specialist consultant carried out research that suggested “for every one person in England who is diagnosed by a rheumatologist as having hypermobility syndrome, there are probably 19 that aren’t yet diagnosed.” That’s around 85% of cases that are going untreated, being told it’s in their head, or being misdiagnosed. This has to change.
The most common sign of Ehlers-Danlos Syndrome is hypermobile joints – something that should be second nature for GPs/physiotherapists to have a quick look for if someone is presenting with wide-spread pain. I first heard the word hypermobilty from a physiotherapist I was lucky enough to come across. She asked me if I knew I was hypermobile, and I said I didn’t know what she meant. She explained it was also known as being double-jointed, but the only time I’d ever seen people mention that was when people did funny tricks with their hands. My hands looked normal. “Of course you’re hypermobile,” the physiotherapist said to me. “Just look at you, look at your toes, you just are!”
That’s all it takes. One person to have the knowledge. To be able to spot hypermobile joints, to notice the person with pain in every joint that is getting negative results to every test, to the person gesticulating with their hands as they speak, with bruises or injuries they don’t remember getting, that might be a bit clumsy. If you spot just one of those things, just have a think about mentioning Ehlers-Danlos Syndrome and you might change someone’s life.