Time To Diagnosis - EDS Awareness Month

This month is EDS Awareness Month and although I like to raise awareness of EDS throughout the year on my blog and YouTube channel, May is particularly important when it comes to talking about Ehlers-Danlos Syndrome (EDS). Over the years I’ve posted a range of things on my blog about my health, including writing about my Invisible Illness Story, how I got my EDS diagnosis and about Week One, Week Two and Week Three on the Stanmore Rehabilitation Programme. It can sometimes be a challenge to think of something different to do each year to help raise awareness, but this year I’m taking the lead of EDS UK and am going to talk about the time it took for me to get a diagnosis.

Getting a diagnosis of EDS is rarely easy, and after speaking to friends and those in support groups I’ve realised I’m far from alone in waiting years to receive the correct diagnosis. As well as feeling comforted that I’m not alone in my experiences, I also feel massively sad that so many people have to go through the damaging journey that I’ve been on. As I’ve already spoken in a previous post about the logistics of how I got my diagnosis, I want to use this post to talk about why EDS isn’t being diagnosed more quickly, the affect this length of time has on people and what we can be doing to improve this situation.

So, why are patients waiting so long for a diagnosis?

Ehlers-Danlos Syndrome is classified as a rare disease, although it’s thought that the Hypermobility type is most common and affects more people than are documented. I’m obviously no expert when it comes to the training doctors receive and what happens when they qualify, so I can only comment on this from my perspective, after discussing the issue with medical professionals I’ve seen. 

Very early on in my diagnosis journey, I heard people with EDS being referred to as (medical) zebras. I didn’t really understand why and for a while I assumed it had something to do with their stripes. But then I was made aware of a saying that doctors are generally taught in medical school:

“When you hear hoof beats in the hallway, think horses, not zebras.”

This probably sounds like a bit of a random saying, but it’s an analogy that tells doctors that when presented with a symptom/set of symptoms, they should use their common sense and look for a simple or more expected cause first, rather than searching for something unusual. This probably works fine in the majority of medical cases, with a lot of people finding that their symptoms are caused by something fairly straightforward or at least something expected. However, this isn’t the case for everyone, and this is where doctors need to start looking for the zebras (i.e. rarer causes) instead of horses.

Now this would be fine if medical intervention always worked in this way. But unfortunately it doesn’t seem to happen. I’ve lost count of the number of people with EDS I have spoken to who had their symptoms misdiagnosed as conditions such as M.E/CFS, Fibromyalgia, Depression, Anxiety, Psychosomatic Disorders…despite the symptoms not actually fitting with that diagnosis. I know for me, I received an M.E. diagnosis at the age of 15, and was told by the doctor that diagnosed me that she didn’t really think it was the right diagnosis but she didn’t know what else it could be, so we would just call it M.E. for ease. It still surprises me to this day that this kind of attitude is encountered so often by patients who are then found to have a rare disease. 

What this doctor should have done, if she had reached the ends of her expertise, was to refer me on to a higher specialist who could look in to more rare (zebra) causes for my symptoms. But this didn’t happen for me, and it doesn’t happen for so many other people with EDS too. Instead, you get stuck with a diagnosis that is, at best, incorrect, but also more often than not, hugely damaging in that it stops you being listened to, taken seriously and from receiving any kind of treatment or support. 

So how does waiting all this time for a diagnosis affect someone with EDS?

I can’t speak for every single person with Ehlers-Danlos Syndrome because everyone will have their own journey to diagnosis and will be affected by this in different ways. But I can tell you how waiting 25 years to receive an EDS diagnosis affected me. Throughout my childhood, even though my symptoms weren’t too bad, I still had various issues that I needed to see a doctor for. At that point, I just tended to be labelled as clumsy or as an anxious child. But at the age of 15, when everything started to spiral, the reality of fighting for a diagnosis became more and more clear. 

To begin with, when you’re going back and forward to the doctor and having various tests, you feel like things are at least moving forward towards a diagnosis. But with every test that comes back negative, things start to get harder. Soon, you’re at a point where your doctor doesn’t know what else to do – you may have had a couple of referrals and an array of tests, but they’ve reached a point where they can’t do any more. This was when I was incorrectly diagnosed, and because of the complete lack of serious research into M.E., it was an ‘easy’ diagnosis to give me because it basically meant they could stop trying to offer any kind of treatment, answers or support because there were none. 

Having that wrong diagnosis and coupled with my mental health problems, I had got to a point where no one would listen to mine or my family’s concerns any more. Any new or different symptom was just put down to the M.E. or I was accused of being a hypochondriac/attention seeker/making it up. Just imagine being really quite unwell – having your body fail on you time and time again – and simply being told to go away and get on with it. Every time I questioned my diagnosis I was shot down and no matter how hard I tried, I just couldn’t get someone to take me seriously and understand that they should be looking at more unusual causes for my symptoms.

As the years go past and you’re in this continual state of being chronically ill, not listened to, dismissed and using every last ounce of energy you have to try and fight to be heard, your body and mind continue to break. For me, things went on for so long, and got so bad, that I ended up in a psychiatric hospital twice, once under section. And, of course, as soon as anything like that happens, you immediately get stigmatised and anything you say or do is put down to mental illness. I was (and still am) mentally ill and I’m not ashamed to admit that. But one of the biggest contributors to my mental ill health was the fact I did not receive the correct physical diagnosis for 25 years. The constant fight with medical professionals, hours of tears over failed appointments and unhelpful test results, the never-ending pain and fatigue plus the fact my life was passing me by while I was stuck in this permanent hole of despair all just got too much for me. Going through that for 25 long years and facing constant stigma, comments and judgements is enough to make anyone break.

I’m just so thankful that, after 25 years, I somehow managed to find a brilliant GP who made the right referrals and spotted what was going on. If my GP hadn’t made that first referral to my local Rheumatology service, I honestly don’t know where I would be now. I was so close to giving up on life back then, that I’m not even sure I would still be alive. 

I remember a comment I received from a locum gastroenterologist at my local hospital before I was diagnosed, and every time I think of that comment, it just completely floors me. As we spoke about the fact there was a possibility that I might have EDS and that this could be affecting my digestive system, he simply said:

“Well, you can’t possibly have EDS because I’ve seen another patient with it and they have (these) symptoms. And you don’t. And even if you did have EDS, there’s no point in getting a diagnosis for you because no one will be able to do anything about it. You should just go away and get on with your life.”

This, to me, just demonstrates the naivety of this doctor, and I know it’s not just this person that thinks these things. Firstly, just because EDS patient one has certain symptoms, it doesn’t mean that EDS patient two will have exactly the same type and severity of those symptoms. Yes, we may have the same diagnosis, but we are also all individuals and the same condition can affect people in many different ways. And secondly, thinking that there is no point in giving someone a diagnosis because there’s no cure is ludicrous. I believe, certainly for me; that knowing what is wrong and what I am dealing with is massively important for my mental and physical wellbeing. I know there is no cure for EDS. But I also know there are things I can do to try and help myself. If a symptom flares up, I generally know why and know when to start worrying about it. And when I’m referred to a new specialist for a certain problem, they know I have EDS and so have a better understanding of what the problem could be caused by. I know some people don’t like labels, but I cannot comprehend how withholding a diagnosis like EDS would ever be helpful to someone. 

So, how can we improve the time it takes to get a diagnosis?

I guess this is the million-dollar question we’re all asking! And I don’t think there’s an easy answer or a quick fix. One of the biggest things that we can do is to raise awareness, which is where EDS Awareness Month comes in. The more we talk about EDS – whether that’s to our doctors, to friends and family or more widely on social media and beyond – the more people will start to understand. They will know some of the signs and symptoms to look out for. They will feel empowered by knowledge when they go to their doctor, knowing that an EDS diagnosis is a possibility. And with the help of EDS UK, medical professionals will also learn more about Ehlers-Danlos Syndrome and the signs and symptoms to look out for in their patients. They will know that, although they should usually look out for horses, sometimes they need to look a little further in case there’s a zebra instead. 

If you want to help raise awareness this EDS Awareness Month, you can join in with EDS UK’s 'Time To Diagnosis' initiative. They are looking for people with EDS to tell them, through a video or photo, how long it took them to receive a diagnosis. You can either do this by submitting your contribution here or by posting a photo on social media using the hashtag #timetodiagnosis and also tagging @ehlersdanlosuk

How long have you waited for a diagnosis? Will you be sharing your photo on social media too?

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