By Will Trinkwon
EDS sufferers produce faulty connective tissue, but despite causing serious health problems, the condition is often overlooked by doctors.
It took Rebecca de Coverly Veale, a 28-year-old trainee opera singer from Cardiff, ten years of chronic pain, constant dislocations and overly flexible joints to be diagnosed with EDS.
EDS stands for Ehlers-Danlos Syndromes, a group of rare genetic disorders that cause sufferers to have faulty connective tissue, and a lot about the treatment of the condition can be gleaned from the fact that, in getting a diagnosis in that time span, Rebecca counts herself “very lucky”. A condition still unknown to and dismissed by many doctors, getting diagnosed with EDS can be almost as challenging as having the disorder in the first place. Rare Disease UK puts the average length of time between first showing symptoms and being diagnosed with EDS at nearly 20 years.
Rebecca first started showing symptoms when she was little. Because connective tissue comprises about 40% of the body’s protein, and is present in pretty much every organ, these are diverse and vary between the different EDS types.
Rebecca has the hypermobility type and her first symptom was clumsiness: “I was super clumsy as a kid,” Rebecca says, “and I injured myself a lot. In my teens I was falling over and falling over, but doctors kept on putting this down to ‘oh, she just has a dodgy ankle’, ‘she has a dodgy knee’. During my A levels I was in crutches for most of the year because my knee kept on dislocating.”
At that point, Rebecca’s symptoms were manageable, but, as often with EDS, things got worse. A “straight A student”, Rebecca earned a coveted place studying Engineering at Cardiff University. What should have been the time of her life instead became a time that Rebecca describes as “peak awful”, however, as commuting from halls to lecture halls and the stress of studying, difficult enough for healthy students, proved impossible for Rebecca with her EDS.
“It got to the point where I couldn’t really get out of bed. I was in so much pain and I was exhausted all the time. I was dislocating a lot, three to five times a week. I hit rock bottom.”
After dropping out of Cardiff, Rebecca was finally taken seriously. Her mum, who has since also been diagnosed with EDS, spotted that Rebecca was “knock-kneed,” and after seeing several GPs, a sympathetic doctor referred her to the Royal National Orthopaedic Hospital. There she was diagnosed “within 15 minutes with EDS.”
Why does it take so long for EDS sufferers like Rebecca to be diagnosed? The issue is at the heart of The Ehlers-Danlos Society, which raises awareness of the disorder, promotes EDS research and supports sufferers. “The story is the same globally,” says the President and CEO of the Society, Lara Bloom. EDS patients are constantly left waiting huge amounts of time for a diagnosis “during which they became sicker, waiting for long term care.”
“The problem in EDS, and everywhere in chronic and rare disease help,” Lara says, “is that the system is set up to deal with the acute and not the chronic.” Awareness of the disease, although much better than it was, is still relatively low. And while more doctors now acknowledge EDS sufferers’ symptoms, they commonly misunderstand them.
In April 2019, The Ehlers-Danlos Society launched EDS ECHO, a network of knowledge-sharing hubs, to raise awareness and teach more doctors about the disorder. Lara aims to have 1000 EDS-ECHO-mentored experts by 2021.
Jane Gregory has two children with hypermobile EDS and has also had poor experiences with GPs especially. “Awareness is probably better than it was, but I wouldn’t say there’s masses. It’s very difficult to get diagnosed, because nobody’s ever heard of it.” And that is within the medical community. Public response to EDS is much worse, in part because of ignorance, Jane says, and in part because many of the symptoms of EDS, such as chronic pain and fatigue, are invisible.
“If you have a broken arm, or you have cancer, or another illness that’s recognisable, people are much more sympathetic.” Taking her children, now 19 and 25, to parties when they were younger was very difficult. “If they get tired and you say ‘they have to sleep for three hours’, people are looking at you like ‘why are you letting them sleep here? They should be enjoying themselves’.” I was dismissed as “a fussy mother,” Jane says.
What does the future hold for people with EDS?
A combination of the complexity of hypermobile EDS, for which the genetic cause has yet to be identified, and low funding means that the outlook for medical treatments for this strain of the disorder is worse than it should be, although progress is being made. Help for the other types is also distant. However, physical therapy, if done correctly, can help in some cases. Rebecca is again one of the “lucky” ones. Since being diagnosed, a combination of careful management and exercise means that she now lives a “relatively normal life”. She earned a BA in Mathematics from the Open University and is currently studying for a PG diploma in Vocal from the Royal Welsh College of Music & Drama, with an eye on a career as an opera singer. She has worked as a hostess and cook.
But her EDS will be with her for life. “[I often] worry that the choreography of an opera rehearsal is going to make me bed-bound or get me kicked out of the job,” she says. “I’m lucky,” Rebecca says. “But I would love that peace of mind.”