Being Mutant

In October 2014 I was diagnosed with Ehlers Danlos Syndrome (EDS), a connective tissue disorder caused by a mutation in one or several of the genes responsible for collagen production. There are seven different recognised forms of EDS at the moment, the variations in which are down to which aspect of collagen is disrupted. EDS can’t be cured, or treated as such, only managed. EDS is considered a rare disease although experts (and many people with EDS, myself included) believe it is nothing like as rare as supposed, but rather massively under-diagnosed. As detailed in this webcast, American EDS specialist Dr. Derek Neilson suggests that rather than the assumed figure of 1 in 15,000 – 20,000 people, the incidence of Hypermobility-type EDS might be 1 in 500, or even higher.

Unless you’re reading this because you or a friend or family member have EDS, it’s likely that you’ve never heard of it before. You’re not alone. The only people I talk to who know about it are those who know someone else with it. This is a problem for day to day management for people with EDS – it is largely an invisible illness or invisible disability – so although we may be in crushing pain, and feel terrible, and need a lot of help to get around, and need extra care from those around us and accommodations just to do simple everyday tasks – we look ‘normal’ to most people. I say ‘most people’ for two reasons – firstly because once you are alert to ‘invisible’ pain and illness of any kind you are more able to see it in other people. Secondly, because EDS does have visible signs, although they might not be apparent to the uninitiated. This is one of the things that has made me most angry since my diagnosis – to anyone who knows enough about it, my body is screaming ‘I have EDS’ at the top of its over-stretchy lungs – yet I’ve spent half my life being told there’s nothing wrong with me by doctors who refused to listen to it.

So I was 34 when I was finally diagnosed with a systemic condition which has defined and directed my whole life. I’m still undergoing more tests to find out more about how it is affecting different parts of me. My parents and I have been seeking answers to my body’s strange behaviour since I was a toddler. The problems I had with my joints were never put together with my other problems, and my diagnosis only came when the physiotherapist I was sent to about various different problems asked which specialist I saw about my hypermobile joints. I didn’t know I could see anyone about them. Luckily, my GP supported me in seeking diagnosis, although I did have to pay to get it privately, because there is no expert I could see on the NHS without already having a diagnosis. I’m going to leave you to think about that by yourselves. This lengthy struggle for diagnosis is a common narrative with EDS, and it shouldn’t be. EDS UK have been collecting life stories from people with EDS and these same problems crop up again and again.

The poor understanding of EDS by medical professionals is one of the major obstacles anyone with EDS faces. The medical literature on EDS is often out-dated and focuses on the most extreme examples, so that many doctors still believe that many people who present with it ‘only’ have ‘benign joint hypermobility’ and a different illness (or none) causing their non-joint EDS symptoms.  Many doctors don’t seem to realise joint hypermobility can be a symptom of a wider condition at all, and don’t put two and two together. Others seem to know, but not realise the significance of correct diagnosis and correct treatment, baffling as that may be. Just prior to my diagnosis, the pain consultant at my local hospital told me that he never tells patients with what he called ‘hyperflexile joints’ that they can be part of a larger condition because they would just worry about it. Needless to say, he didn’t help me at all.

Worse than the basic ignorance of ‘I don’t know what is wrong with you’ is the propensity by doctors to turn this into the false logic of ‘I can’t see anything wrong with you, therefore there is nothing wrong with you’. This kind of attitude means that by the time they reach diagnosis, many people with EDS are deeply mistrustful of doctors, who their whole lives have either

  1. been telling them there is nothing wrong with you
  2. been telling them their problems are psychological not physical, or
  3. been treating them for entirely different conditions they don’t actually have, often in ways which are directly damaging them.

Like many people with EDS I have been gas-lighted, dismissed, misdiagnosed and medically mismanaged my whole life. When I have become very ill it has been, in almost all cases, directly because of mismanagement of this undiagnosed condition. When I have become very ill, and they couldn’t work out why, I have been told I was creating my illness – either through self-harm or starvation, through displacement of mental trauma, or in order to seek attention. I have a rolling Arya-Stark-like list in my head of Doctors Who Were Wrong going back to my pre-teens, but unlike Arya, I don’t really know what to do with it. In recent years, with decades of frustration already behind me, I have made official complaints about this kind of dismissal from consultants, and received responses blaming me for being a ‘difficult patient’ – read time-waster, read hysterical, read not-ill-at-all.

Thankfully, my parents weren’t accused of abuse because of my many childhood injuries, like some parents of children with undiagnosed EDS are. Thankfully, I didn’t have surgeries that made my condition worse, or die or almost die due to mistreatment or no-treatment, as many people with undiagnosed EDS do. Thankfully, I have found some medical professionals to be caring and humane and well-meaning, even when they haven’t been able to help me, which has given me enough faith to keep trying to find someone who could. But I have spent years of my life suffering unnecessarily because of mismanagement and mistreatment. As Professor Grahame said to me during my diagnosis – no one should have to suffer in ignorance like this, but too many do.

So I’ve started this new strand on my website to share some of my experiences and knowledge of EDS, in the hope of chipping away – in my tiny way – at this vast damaging ignorance.

I’m not sure how good I’ll be at this. I have EDS. I have dysautonomia. Sometimes I am too mentally and physically exhausted and broken from doing the basic things I need to do for work or self-care to think about anything extra.

It’s also a bit gross and embarrassing. We’re taught not to be open about our bodies, and to hide their functions out of politeness. I certainly feel less awkward talking about heart palpitations and blood-pooling than about my gastro-intestinal symptoms, or hormonal fluctuations. Even to doctors. I’m working on this, and hope that the more any of us are open about such things, the easier it gets for all of us.

One of the problems with decreasing ignorance about misunderstood diseases is that the people in the best position to tell you about what they’re really like – the people with them – are usually too busy being ill to expend precious time and energy on telling you about it. Chronic illness is a full time job. The kind of job that leaves you so tired at the end of the day that you don’t know your name any more.

It is too much to expect people with chronic illnesses to spend the rest of their time explaining their existence to the rest of the world. This is a running (joke? complaint?) in chronic illness communities. If you want to find out more about a friend or relation or colleague’s condition, think about what the most helpful way of doing that is. In making them explain their condition to you, you might effectively be asking them to prioritise informing you as the only thing they can manage to do that day (see Spoon Theory if this seems difficult to grasp). Maybe instead of expecting them to explain it to you – which can be awkward, anxiety-inducing and particularly exhausting for that already exhausted person, especially if they have to do it for hundreds of people – you could try looking it up. It might be that they would like to talk to you about it, but give them the option.

The internet – and social media in particular – has changed the lives of people with chronic illnesses. We can be physically isolated but still have a sense of community. We can never have met anyone with the same condition, but have hundreds of confidantes with shared symptoms. We can share experiences with people with the same conditions as us on the other side of the world. We don’t have to suffer alone anymore.

This is great. But we also need people outside our communities to listen to us. I hope the internet can help with this too. I recommend My Stripy Life, Natasha Lipman, and Life with EDS for some different perspectives on EDS.

My life revolves around writing and teaching and performance – around communication, basically. It strikes me that the most useful thing I can do with this new knowledge I have is to use the platforms I already have to tell people about it. Hopefully now at least some of you will recognise the name Ehlers Danlos Syndrome next time you meet someone with it, if you didn’t already, and know a little about how they might be feeling. It’s a small thing, but it’s a start.