Tuesday, 26 February 2019

Rare Disease Day - Living with Ehlers-Danlos Syndrome

The 28th of February 2019 marks the twelfth international Rare Disease Day coordinated by EURORDIS. It’s a day when hundreds of patient organisations from all over the world hold activities to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. 1 in 20 people will live with a rare disease at some point in their life, but despite this, there is no cure for the majority of rare diseases and many go undiagnosed for years or even a lifetime.

So what is a rare disease?

In Europe, a disease or disorder is defined as rare when it affects less than 1 in 2000 people. There are over 6000 rare diseases, which cause patients a huge range of symptoms. These can vary between disorders, but symptoms can also differ between those suffering from the same disease. Misdiagnosis in rare diseases is, unfortunately, common, and this can lead to a delay in treatment and therefore affect a person’s quality of life. And with so few cures available, patients with rare diseases often endure high levels of pain and suffering, alongside their families. This is why awareness and research is so important.

I was born with a rare disease (Hypermobile Ehlers-Danlos Syndrome), but didn’t receive a diagnosis until I was 25. That wait for answers isn’t uncommon and it left me struggling with my mental health as well as my physical health. So today, I thought I would use this opportunity to talk about what it’s like to live with Ehlers-Danlos Syndrome (EDS) in the hope it will help people to understand, to recognise the symptoms and to invest in further research towards treatment and ultimately a cure.

The symptoms of Hypermobile EDS

Hypermobile EDS is thought to be the most common genetic connective tissue disorder, although at the moment there is no up-to-date research that reveals how frequently it occurs. You can either inherit the disease from a parent who has the same faulty gene, or it can be caused by a mutation during conception, meaning no one else in the family has it.

There are a whole host of symptoms and associated conditions that come with Hypermobile EDS, including, but not limited to:
·     Joint Hypermobility
·     Chronic Pain
·     Joint dislocations and subluxations
·     Smooth, stretchy skin
·     Fragile skin that bruises easily
·     Fatigue
·     Digestive problems such as Gastroparesis and Intestinal Dysmotility
·     Postural Orthostatic Tachycardia Syndrome (POTS) – dizziness, fainting, increased heart rate (especially on standing up)
·     Problems with internal organs such as mitral valve prolapse or organ prolapses
·     Problems with the bladder e.g. incontinence or retention
·     Mast Cell Activation Disorder

What’s it like to live with Ehlers-Danlos Syndrome?

I sometimes find it quite difficult to describe what life is like with EDS because I’ve never known any different! I can often forget that some of the things I experience aren’t ‘normal’ – for example, I sometimes forget that it’s not usual to be in constant pain or to spend half your life at hospital appointments!

Growing up, I didn’t know I had Ehlers-Danlos Syndrome, but looking back I can see constant signs of it. As a baby, I needed to be fitted with a Pavlik Harness to stop my hips from dislocating. Thankfully, it’s not something I remember, but I know it made life more difficult for my parents, especially when it came to nappy changes and the fact I couldn’t have a proper bath! As I got older, I was always injuring myself and spent many an evening in A&E with sprains and strains (probably caused by partial dislocations, but I didn’t know that at the time).

It was only when I was 15 though, that my EDS started to have a noticeable affect on my life. And, as I mentioned, it took until I was 25, another ten years, to be given the correct diagnosis. It probably sounds obvious, but life with Ehlers-Danlos Syndrome is hard. I’ll often try to play it down to friends and family because I don’t want to worry them or be known as the person who is always complaining, but having a rare disease (or several!) is incredibly difficult and scary. 

The constant widespread pain and debilitating fatigue is completely draining, and some days I will wake up and wonder how on earth I’m going to make it through another day. Although I now know what is wrong with me, it doesn’t take away how frightening it can be when your body is malfunctioning and there’s very little anyone can do about it. A relatively new symptom to crop up is that I’ve been finding it difficult to swallow. Such a basic function that most people take for granted, but at the moment every mouthful brings with it gagging, coughing and food getting stuck in my throat. And it’s massively anxiety provoking; not quite understanding why something else is going wrong and wondering whether there will be a solution or whether it will be something else that I just need to ‘live with’.

Yes, the actual physical symptoms are tough to live with, especially when there’s no treatment, but it’s the anxiety that comes alongside living with a rare disease that can often go unappreciated by others. People (friends, acquaintances and even medical professionals) often expect me to be used to spending time at medical appointments, in hospital and having tests, so it can be hard for them to understand that, just because I’ve been doing those things for a long time, it doesn’t make them any less scary! I’ve had people say to me, “Oh, I thought you’d be used to having blood tests by now?!” And yes, I am ‘used’ to it in the sense that I’ve lost count of the amount I’ve had. But being used to having to do something regularly doesn’t mean I don’t still get anxious about it! And it doesn’t stop these tests and procedures from hurting and making me feel unwell.

Living with a rare disease like Ehlers-Danlos Syndrome is also incredibly frustrating for a number of reasons. For example, I have a brain that doesn’t quite realise that my body doesn’t work properly! So I have all these thoughts, hopes and dreams of doing all sorts of amazing things, but my body just won’t keep up! I try not to discount things that I want to do straight away, because with a lot of things there is a way around my disabilities. But there are dreams I’ve had to give up on, such as becoming a Doctor, simply because my health isn’t good enough. And that really sucks! 

It’s also incredibly frustrating to have a disease that has very little treatment and no cure. I’ve had to lower my expectations dramatically from when I first got really unwell. At the age of 15, when my health began to fail, I would go to the doctors with the expectation of getting a diagnosis and some treatment to eventually feel better. But over the years, and since getting my EDS diagnosis, I’ve had to adjust my expectations of what the medical profession can do for me. I now know that I have a condition (and associated conditions) that are not well understood and have very few treatment options. I know that generally, when I go and see a doctor for a specific set of symptoms, the response is more than likely going to be that it’s something I will have to learn to live with and manage. I’m very much the kind of person who likes to fix something if it’s not working, so having a body that doesn’t work in that way is challenging to say the least!

Alongside this, living with a rare disease can feel incredibly lonely. If you have a fairly common chronic condition, the likelihood is that there will be a specific department at your local hospital that treats/manages this condition. There will be consultants who specialise in it, specialist nurses that you can contact if you need advice and possibly a local support group so you can talk to others going through similar problems. But for rare diseases, most of these things just don’t exist. I’ve been passed from pillar to post around my local hospital as doctors have tried to work out who would be best to look after me. These days, I usually end up being referred to specialists up in London (which is exhausting in it’s own right, although I am grateful to have their input) but even they don’t usually specialise in my particular disease – they tend to focus on a specific symptom/set of symptoms but not necessarily related to Ehlers-Danlos Syndrome. I don’t have any kind of specialist nurse as my first point of contact if things get worse or I need some help. And if I try to ring my local surgery or a secretary of one of my consultants, they are often at a loss of what to do with me because they don’t have knowledge of my rare disease. 

Thankfully there is a charity, EDS UK, who do all that they can for people with EDS – without them, it would be an even lonelier existence. I’ve reached out to them before when I’ve needed support or advice and I often read their latest research and attempts to make life better for people with EDS. They also run local support groups both on Facebook and in person, and so this does help to break to isolation that a rare disease can bring. I’ve lost a lot of friends over the years because of my illnesses – either they’ve drifted away because I can’t do the things they want to do or they haven’t understood my conditions – and it’s heart breaking. And it’s not that easy to make new friends because my poor health makes it difficult to get out and about as much as I’d like. I’m a naturally sociable person, so to be in a position where I have so little social contact has a massive affect on my mental health.

So as you can probably see, life with a rare disease is complicated. I did consider basing this post around the individual symptoms that I experience as part of my EDS and how they affect my daily life, but decided I wanted to speak about life with EDS more generally. However, if you would be interested to hear more about the symptoms I experience and ways I try and manage them, I would be happy to do another post around those issues, so do let me know.

My hope is that, with this post, I will help to raise awareness of rare diseases, Ehlers-Danlos Syndrome and what life is like when you have something ‘different’. In the future I would love to see more being done for the 1 in 20 of us who will have a rare disease at some point in our life. Whether that’s research into treatments and cures or just more support on offer to help people live with these often-incurable conditions. I hope that one day, having a rare disease won’t be such a lonely experience and that, one day, people won’t have to fight for years just to be listened to and to receive a diagnosis.

Do you have a rare disease? Or can you relate to anything I’ve spoken about in this post?


  1. You are not alone and even though I am a little bit far from you, I am your friend forever!♡♡♡