Living with Ehlers-Danlos Syndrome and why better data is so important

Rare diseases affect 3.5 million people in the UK and approximately 350-400 million globally. One in 17 people will have a rare disease at some point in their lives. The scale of these figures means rare diseases are increasingly being described as ‘individually rare, collectively common’.

I am one of those statistics. I have a condition called Ehlers-Danlos Syndrome (EDS). As May is EDS awareness month, I want to take this opportunity to reflect on what it means to have a rare disease, both for patients and the NHS, and why better data is so important.

What is EDS?

EDS is a group of 13 individual genetic conditions, all of which affect the body’s connective tissue. In EDS, a gene mutation causes a certain kind of connective tissue – the kind depends on the type of EDS but usually a form of collagen – to be fragile and stretchy. These are complex syndromes affecting many systems of the body at once, despite the symptoms of EDS often not being apparent to others.

EDS is rare, and prevalence is not well understood. There is no genetic test for the most common type (known as hypermobility type), and other types are much rarer still. Prevalence is estimated to be between one in 5,000 and one in 100,000 depending on the sub-type, although hypermobility type is thought to be significantly under-diagnosed.

I have a rarer form of EDS. I was diagnosed when I was two years old by a paediatrician, although I never had a genetic test. My Mum found a few leaflets produced by a small support group (run single-handedly from a village hall) and we muddled through. But it wasn’t easy. Growing up with an acute sense that no one really understands your health condition can be fairly terrifying, especially during those semi-frequent A&E visits.

In some ways, however, I was very lucky to receive a diagnosis so early on in my life. Many people with EDS do not receive a diagnosis until they are well into adulthood and have suffered for many years with ill health, often undergoing increasingly invasive tests. That’s why investing efforts in better understanding rare diseases is so important not only for improving patient care but also for realising efficiencies in the system.

What’s the cost?

Recent research by Imperial College Health Partners found that the lengthy process of diagnosing rare diseases cost the NHS £3.4 billion over 10 years (excluding GP visits or drug costs). The analysis was based on a cohort of 258,235 patients diagnosed with a rare disease during a 12-month period (2017/18). Patients with a rare disease made up just 0.94% of the reported hospital population during that year, but over the preceding 10 years they cost twice more per patient compared with other patients who had a hospital visit during the 12-month study period – indicating an average individual difference of over £7,000.

This is perhaps not surprising given the diagnosis journey many patients go through. A survey of 1,203 UK patients with a rare disease found that 71% had to see over three doctors and one in 10 had to see more than 10 doctors, before getting a final diagnosis – with the average rare disease patient seeing five doctors. Over half (52%) said they had been given an incorrect diagnosis before receiving their final diagnosis. The average number of misdiagnoses was three.

And the cost to the NHS does not take into account the need for private health care. A further survey of 487 UK patients with a rare disease found that 18% incurred direct medical expenses not covered by insurance or the NHS. I too have had to seek costly private treatment to ensure appropriate care.

Of course all of this takes a significant emotional toll on patients. Another survey of 1,350 UK patients with a rare disease found that 95% have felt worried or anxious, 93% have felt stressed, 90% have felt low, 88% have felt emotionally exhausted and 70% have felt at breaking point due to their rare disease.

Taken together, this paints a picture of a system that is failing rare disease patients.

What can we do?

There is already a lot of work at the national level to better cater for patients with rare diseases. The NHS Long Term Plan sets out plans to build on the 100,000 genomes programme and sequence 500,000 whole genomes by 2023/24 – helping those with a rare disease receive a diagnosis that otherwise would not have been possible.

In 2019, seriously ill children who are likely to have a rare genetic disorder, children with cancer, and adults suffering from certain rare conditions or specific cancers will all begin to be offered whole genome sequencing. The government has also produced a rare disease strategy that NHS England has followed up with an implementation plan with three key objectives – one of which is to facilitate earlier diagnosis and intervention.

In the case of EDS, we need as much data as possible to better understand the different sub-types and their varying, multi-systemic impact on patients. That’s why the Ehlers-Danlos Society, a global EDS charity, has launched a global registry to collect a wide range of data from EDS patients.

Given the rarity of many EDS sub-types, it is important that everyone with an EDS diagnosis fills in the register. Having a better understanding of prevalence, as well as how the condition affects people differently, will enable health service planners and commissioners to provide appropriate health services. Given the different ways in which the condition can present, it will also help the EDS society to raise awareness and support clinicians to recognise signs and symptoms more effectively. Finally, it will provide new opportunities for research – including identifying links between EDS and other conditions.

Without this understanding, patients will continue to be mis- or undiagnosed, causing significant costs to both patients and the health system.

So, to end with a plea: if you are a patient with EDS or a health professional treating a patient with EDS, please remember the EDS registry. Completing it could lead to a better future for everyone.

*Sophie Castle-Clarke is a Senior Fellow in Health Policy at the Nuffield Trust and also holds a voluntary position at the Ehlers-Danlos Society.