We Need to Care More About Rare

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The 28th February is Rare Disease Day. It is expected that at least 1 in 17 people will be affected by a rare disease at some point in their lives and there are between 6000 and 8000 diseases which are categorised as rare. So, without realising it, the chances are that you will probably know someone who has or has had a rare disease.

Ehlers Danlos Syndrome is classed as a rare disease, although under the EDS umbrella, there are different EDS sub-types which are more well known than others. I talk about EDS a lot, it’s a huge part of my life and it impacts on my life every single day. But what actually is EDS? EDS is a genetic condition which affects the connective tissues in the body. Connective tissue lies between other tissues and organs, keeping these separate whilst connecting them, holding everything in place and providing support, a bit like the mortar between bricks, which hold a house together. Without the mortar, the bricks still stand, but are likely to have problems and won’t be structurally sound.

I have hypermobility Ehlers-Danlos Syndrome (hEDS). Unlike the other 12 types of EDS, the specific gene mutation responsible for hEDS hasn’t been found. I don’t know if EDS is something that I have inherited or if my genes just went a bit funky when I was still in foetus. What I do know is that I have super stretchy collagen and because of this, I can extend my joints further than deemed normal. As my physio has put it, my joints are “free spirited”. Diplomatic.

Because collagen is present throughout the body, people who have EDS tend to experience a broad range of symptoms, however most of them less visible than the joint differences. This means that for the most part, EDS is deemed as an invisible illness. So I’m rare and invisible: imagine if I was a superhero? The other symptoms of EDS commonly include long-term pain, chronic fatigue, dizziness, palpitations and digestive disorders. These problems and their severity vary considerably from person to person, so one person with EDS may suffer with numerous dislocations a day, whereas another person might suffer more with digestive problems. Some people with EDS need a wheelchair, other people don’t. Some people aren’t able to tolerate any oral nutrition, other people don’t have any issues in gaining adequate nutrition. Some people will have stretchy skin and bruise easily, other people won’t.

Very little is known about EDS, although that is slowly changing, with more and more research being done. That said it takes the average person over four years to receive a formal diagnosis of a condition that is known as rare. In the case of EDS, it can take over a decade to get a diagnosis, from the first onset of symptoms. I was around 13 when I first started displaying EDS symptoms, although as I have mentioned before, those symptoms were dismissed as me being clumsy. I was officially diagnosed in May 2015, at the age of 22. At that point, I had already had two major hip operations, elbow surgery and surgery on both of my eyes, numerous broken bones and dislocations, snapped tendons, unexplained fainting episodes and illnesses that resulted in hospitalisation due to being immunocompromised. That’s the thing about EDS, because it’s rare, no one was looking for it, hence going so long without a diagnosis.

EDS is not just being double jointed, please don’t mistake the two. EDS does not just impact the body’s muscles and joints. Connective tissues make up around 21% of the body – you do the maths, that’s a lot of body which can be affected, including organs. It is a multi system disorder. You also don’t have to look a certain way to have EDS: the beast does not discriminate. You don’t have to be tall (at 5ft, I’m definitely not tall) or have a specific skin colour. Those people who have been diagnosed with EDS can vary in height, weight and ethnic backgrounds. We are a diverse bunch.

My hope for the future is that EDS will not be classed as a rare disease. That is not me saying that I want more people to be diagnosed – I would’t wish this on my worst enemy. I want more people to know about it. I want more medical professionals to be EDS aware; walking into a hospital and not having to spend 10 minutes explaining about EDS would be amazing. I want there to be more media coverage, less stigma and more understanding. Ask questions, don’t make assumptions: we are more than happy to education you.

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