EDS Awareness Month: listening to personal experience

In May, as part of EDS Awareness Month, we took time to have conversations with two team members about what it really means to live with Ehlers–Danlos syndromes (EDS).

‘A’ and ‘J’ chose to remain anonymous because of the discrimination that can come with living with a long-term chronic condition. However, they were keen to share their experiences in the hope of increasing awareness and understanding of EDS, prompting earlier diagnosis, and ensuring that people with EDS are not overlooked or dismissed.

EDS is a group of genetic connective tissue disorders where production or processing of collagen is impacted affecting multiple systems throughout the body, often resulting in chronic pain, fatigue and joint instability. For many people, the journey to diagnosis is long, with symptoms often dismissed, misunderstood or treated in isolation.

What ‘A’ and ‘J’ shared offered insight into the realities of living with EDS. They spoke about navigating a condition that is often invisible to others, the unpredictability of symptoms, and the need for constant planning, as well as the physical and emotional effort required to manage day-to-day life. They also highlighted the importance of being believed, the emotional impact when they are not, and the ongoing challenge of accessing consistent, joined-up care and support after diagnosis while balancing work and personal commitments.

With an extensive track record and deep interest in rare diseases, at Amiculum we are increasingly focused on understanding the realities behind the science. That means moving beyond data and developing a patient-centred view of the rare disease journey. We can then use this to supplement data with real-life stories to drive greater awareness of the personal experience and elevate the unmet need to be addressed by medical therapies.

Perspectives on living with EDS

Why would you like to raise awareness of EDS?

A: Increased awareness could help people recognise their symptoms sooner, find answers faster, and access the support they need, both personally and professionally.

J: Raising awareness of EDS can drive earlier diagnosis, improve understanding and support, and ensure people with EDS aren’t overlooked or dismissed.

In simple terms, what is EDS?

J: EDS is a group of 13 genetic connective tissue disorders that cause widespread symptoms such as chronic pain, fatigue, joint instability, dysautonomia [nervous system disorder impacting heart rate, blood pressure and digestion], gastrointestinal issues and a whole list of other things that are seemingly unconnected. As collagen is the most abundant protein in the human body and is present in most human tissues, a problem with collagen generally equals a problem with everything!

How has EDS impacted your life and day-to-day activities?

A: I feel like life takes more effort than it otherwise would, partly because things physically take more effort and partly because you have to put more effort into planning life.

J: I changed career a few times before I was diagnosed as I thought I couldn’t manage in the jobs that I was doing when, in fact, I was pushing through symptoms that I didn’t understand or have a name for. I’ve had to stop doing activities that I enjoyed but were too risky for someone with EDS, such as weightlifting. I’ve had to find alternatives such as Pilates or using resistance bands rather than lifting heavy weights.

What do a ‘good day’ and a ‘bad day’ look like for you?

A: A good day looks similar to a normal day for someone without EDS; a bad day looks like being stuck in bed or on the sofa or spending the day in a hospital waiting room.

J: On a good day, I can just get on with things without too much fuss or planning. I still have to be mindful to take breaks and listen to what my body is telling me, but it’s very low level. On a bad day, I have to really limit activity, so I might have to stay in bed or collapse on the sofa. I’ve had days where the pain and fatigue were so bad, I had to crawl around the house because walking was too much to bear.

What do you wish clinicians, friends or employers understood earlier?

A: For clinicians, that EDS is a systemic disease and that my wide variety of symptoms are all connected.

J: For clinicians, that my symptoms are real and connected, even though test results and imaging appear to be ‘normal’. For friends and employers, that EDS is unpredictable, and even though I work hard to manage my symptoms, sometimes plans have to change at the last minute. It’s a last resort, and I always feel terrible when I have to cancel or reschedule something because of my EDS.

What was most challenging about your diagnostic journey?

A: Not being believed and experiencing medical misogyny and gaslighting first-hand. It takes on average 10–15 years from symptom onset to get a diagnosis, and my experience was longer than that.

J: Exactly this! I was dismissed, belittled and ignored by so many practitioners for years before I figured out for myself that I probably had EDS. One rheumatologist told me that my clicky, hypermobile joints were ‘a great party trick’, completely ignoring the fact that I was in crippling pain and completely exhausted. I eventually found a specialist who was empathetic and actually listened, which was such a relief! I had a 19-year wait for a diagnosis, which is unacceptable.

What support did you expect after diagnosis, and what did you actually get?

A: There is very little in the way of support; it is mostly about self-management, which I was expecting, but that also comes at your personal financial expense.

J: There’s a real unmet need for holistic, multidisciplinary support. Having EDS is like playing whack-a-mole, every time a symptom appears or flares up, you have to go see the GP and get a referral for that specific thing, when actually a lot of symptoms are linked. It must waste so much NHS time and resources, not to mention the impact it has on the lives of people with EDS. One thing that I found really useful though was a residential pain management clinic at the Royal National Orthopaedic Hospital Stanmore. I was referred to the programme by the specialist who diagnosed me, and it was genuinely life changing. I went from thinking I would have to give up work completely in my early 30s to returning to university, completing a Bachelor’s and a Master’s degree, and finding a career in healthcare communications.

Why do they call it a ‘zebra’ disease?

A: Medical students are taught to expect horses, not zebras, when they hear hoofbeats, meaning that they should look for a common explanation for symptoms. However, sometimes the cause may actually be a zebra (or rare disease). The EDS Society also says that no two zebras have the same stripe pattern, and similarly, people with EDS have different symptoms and experiences.

Spoon theory is talked about when it comes to managing EDS, can you explain what this is?

A: Spoon theory is that each day, you have an allotment of spoons to spend with each activity, which costs a certain number of spoons. You must choose and balance your activities wisely so as not to run out of spoons before bedtime. In practice, this may look like, “If I go out for a walk, will I be able to do the dishes tonight?”

J: You’re always trying to get the spoon balance right; ending up in spoon ‘debt’ is a fast-track to a flare-up, so it’s best avoided!

How does EDS affect decisions you make day to day (including work and social life)?

A: You have to think ahead all the time. If I know I’m going to be out of the house for a while, I have to pack my collapsible stick on the off chance that I need it, which is one more thing to carry around.

J: Making contingency plans is so necessary and so frustrating at the same time! Doing something fun (a concert, a mini-break, a day out) is so important, but it also comes at a cost that you then have to account for later on. That might be booking additional time off work, getting behind on housework and life admin, or just feeling exhausted and rubbish for a few days. Sometimes you avoid doing the fun things because the aftermath isn’t worth it.

What common challenges do you see between EDS and other rare diseases you’ve worked on?

A: There are very dedicated people who have developed great resources for clinicians and patients; one of the big challenges is getting that information to non-specialists so that they can recognize the disease. With the number of rare diseases, it’s also unrealistic to expect GPs to recognize every rare disease they see.

J: Recognition, awareness, understanding... these same issues come up time and again in rare disease. Medical gaslighting, dismissal and ignorance are not unique to EDS, especially when it comes to invisible illness. Most people don’t want to spend their lives at hospital appointments and chasing diagnoses, they just want to understand what is happening in their body so that they can figure out a way to live as fully as possible without damaging their health.

What more needs to be done to better support people with EDS?

A: Better emotional support; you spend years knowing that something is wrong and being told that nothing is wrong, then suddenly it’s confirmed that something is wrong, and it feels like emotional whiplash. There’s also limited physical support available for people, and realistically, you need to pay for private physiotherapy and activities that are good for EDS, which are often not cheap!

J: A formally recognized patient pathway and specialized NHS services would be so beneficial. EDS UK is currently running its ‘Enough Is Enough’ campaign to help improve NHS services for people with EDS and hypermobility spectrum disorders, but so far, little progress has been made. In fact, services are becoming more limited and have been pushed back to primary care practitioners, who are currently poorly equipped to perform this role.

How has your experience shaped the way you think about healthcare communication?

A: I think it makes it easier to centre the patient experience and to remember that there are real patients at the heart of the work we do. I think it’s also a helpful reminder that education is ongoing for HCPs and that projects we work on may help people struggling with a rare disease to get a diagnosis or treatment thanks to increased HCP awareness.

J: I like to keep patient outcomes at the forefront of my mind when I’m developing materials. As medical writers, I think we’re fortunate that we have quite a broad overview of the treatment landscape, and it’s interesting to see that what patients want is different to what clinicians want and different to what regulators or payers want. I think we have a responsibility to communicate that effectively so that all these different points of view are understood and hopefully to help better align these groups to ensure that patients get the best possible outcome.

What do communications teams need to do more of in rare disease?

J: I think integrating the patient voice is especially important. It’s human nature to make assumptions about what a particular experience is like; we view the world in the context of our own experiences after all! It’s therefore really valuable to hear directly from patients, and their families and caregivers, about the realities of living with a disease – the challenges, the worries, the practicalities – especially in rare disease. I think that then needs to filter into all those other materials so that patient experience stays central to the conversation; that might help to address some of those disparities that I mentioned above.

If these conversations have highlighted anything, it’s the importance of listening consistently.

Understanding personal experience is essential to moving beyond the science and towards truly patient-centred communication.

The more we listen, the better we can reflect real-world experiences in our strategic planning, trial design, educational materials and more. Getting this right will provide the tools to support meaningful dialogue and help ensure that people living with rare diseases are seen, heard, and supported.