Millions have the same ‘bendy body’ disease as my daughter. Why isn’t the medical profession paying more attention?
One day in July 2021, my then 15-year-old daughter Poppy stumbled and fell while walking down some stairs, grazing her knee. It wasn’t a serious wound, but over the weeks it didn’t heal.
Around the same time, her wrists and knees became sore; her ankles started rolling when she walked; her hands began shaking; her headaches and stomach aches became more frequent and intensely painful. She was always exhausted.
Before her health declined, Poppy had enjoyed horse riding and gymnastics, she’d competed in cross country races and been a fearless goalkeeper for the school hockey team.
But within a couple of months, as walking became increasingly difficult, she asked me for a walking stick. We found one that folds up and fits neatly in her school bag.
I took Poppy to doctors who conducted tests, but they couldn’t find out what was wrong with her. Then, in October, a breakthrough.
A podiatrist who was measuring Poppy for insoles to support her aching feet asked if Poppy could bend her thumb to reach her forearm. She could. Could she pull her little finger back to form a 90-degree angle with the back of her hand? She could do that, too.
“Have you heard of Ehlers-Danlos syndrome?” the podiatrist asked me. I hadn’t — so as soon as I got home, I went looking on the internet.
There are 13 types of Ehlers-Danlos syndrome (EDS), according to research and advocacy organization The Ehlers-Danlos Society. Most types are very rare, and can be diagnosed using genetic tests. However, the genes that cause hypermobile EDS (hEDS) — the most common form, accounting for about 90% of cases — are unknown, so diagnosis is based on a checklist of symptoms. The list includes a hypermobility rating, known as the Beighton Score.
Poppy had enough symptoms to qualify for hEDS, and the diagnosis was confirmed by a doctor one year ago, on Christmas Eve. He told us that although we can do our best to alleviate some symptoms, there is no cure.
Poppy reacted to the news better than I did. She had known for some time that something was fundamentally wrong. The diagnosis was upsetting but identifying her illness also gave her a sense of relief. I felt shocked and overwhelmed, and I cried for weeks.
Reading about EDS was like a dreadful slow reveal.
I learned that it’s a genetic disorder that causes the body to make faulty connective tissue, and connective tissue is everywhere — in the tendons, ligaments, skin, heart, digestive system, eyes and gums.
Weak connective tissue leads to hypermobility, which may sound like a good thing, but some people with bendy bodies suffer a mind-boggling array of symptoms, including joint dislocations and subluxations (like a mini dislocation, when the joint partially slips out of place), soft stretchy skin, abnormal scarring, poor wound healing, gastrointestinal disorders, chronic pain and fatigue.
The severity of symptoms varies wildly. Patients with milder cases can lead relatively normal lives, while others become housebound, and some can’t digest food and must be fed through tubes.
What’s more, people with hEDS are prone to other conditions, including POTS (postural orthostatic tachycardia syndrome, which makes you dizzy when you stand up) and MCAS (mast cell activation syndrome, which gives you allergy-type symptoms).
I learned a lot of new acronyms and they all spelled bad news.
Zebras or horses?
I initially thought hEDS was rare, because all forms of EDS are commonly referred to as rare. But within a few weeks, I felt like I was seeing references to hEDS everywhere. Actor, writer and director Lena Dunham; actor and presenter Jameela Jamil; and drag queen Yvie Oddly live with it. I deep dived into EDS Twitter and EDS Instagram, while Poppy found it comforting to watch TikTok videos made by teenagers with the condition.
I discovered multiple patient groups on Facebook, each with tens of thousands of members, which turned out to be great sources of support. I asked questions (what kind of shoes are best for weak ankles? Which knee braces are easiest to pull on and off?) and kind strangers sent helpful advice. At the same time, scrolling through countless personal stories of pain, despair and shattered dreams made me feel terrified about what might lie ahead.
I noticed common themes. Many EDS patients had spent years seeking the correct diagnosis; others felt they’d been neglected and gaslit by doctors.
There was also a lot of talk of zebras.
Linda Bluestein, a Colorado-based physician who specializes in EDS and other hypermobility conditions, and has hEDS herself, explains why.
“I was told in medical school, ‘when you hear hoofbeats think horses, not zebras,'” she says. Many trainee doctors receive the same advice — when a patient presents with symptoms, “look for the common thing.” That’s why EDS patients commonly refer to themselves as zebras — and also use the fabulous collective noun “dazzle.” The name represents rarity and evokes the stripy stretch marks that are a common feature on EDS skin.
But if people with hEDS are medical zebras, why am I encountering so many of them?
Bluestein says that for many years it was thought that one in 5,000 people had Ehlers-Danlos syndrome. But she says the limited research that’s been carried out into the prevalence of hEDS suggests the true number of cases is “much, much higher” than that.
Bluestein points me to a 2019 study carried out in Wales — a country of 3.1 million people. An examination of primary care and hospital records from 1990 to 2017 found that one in 500 people there has either hEDS or joint hypermobility syndrome (a similar condition with a slightly different set of symptoms). She says it’s “a good study” but believes it’s still an underestimate. The Ehlers-Danlos Society says more population studies need to be done to give a more accurate view of its incidence elsewhere.
But despite this possible prevalence, and how debilitating hypermobility disorders can be, the average time to diagnosis from the onset of symptoms is 10 to 12 years, according to The Ehlers-Danlos Society.
Bluestein has firsthand experience of this. Growing up, she wanted to become a ballet dancer and trained six days a week. When puberty hit, she started experiencing joint pain and migraines, and at 16 had her first orthopedic surgery. She realized she wouldn’t succeed in the ballet world and instead pursued her “back-up plan,” to become a doctor. But despite her career choice, Bluestein only received her hEDS diagnosis when she was 47 — more than 30 years later.
“I told my doctor on numerous occasions, ‘there is something wrong with me, I don’t heal well, I get injured more easily than other people’,” she says. “And he just never, never listened.”
Why, for so many patients, does it take so long to get diagnosed?
‘The worst possible model’
In 2014 a leading EDS expert, Professor Rodney Grahame, remarked at a conference that “no other disease in the history of modern medicine has been neglected in such a way as Ehlers-Danlos syndrome.”
A 2009 study, conducted by the European Organisation for Rare Diseases, surveyed 414 families of EDS patients from five countries and found that the average delay to an EDS diagnosis was four years for men — but 16 years for women.
The report states that women with EDS tend to be “diagnosed later because their pain and hypotonia (poor muscle tone) aren’t considered as physical symptoms but rather as psychological symptoms or common complaints.”
“We tend to get dismissed a lot more easily,” says Bluestein. “People jump to the conclusion that we’re histrionic females.”
Anxiety is very common in patients with hypermobility issues, says Bluestein, which can cloud the picture. “When people with anxiety present to a physician, it can suck all the air out of the room, so that the physician almost can’t see anything else.”
This can ramp up the patient’s anxiety further “because people aren’t validating our symptoms, and then we start to doubt ourselves,” she says.
What’s more, medicine is divided into silos which creates the “worst possible model” for EDS patients, says Bluestein.
She explains that undiagnosed patients might consult a neurologist for their migraines, a rheumatologist for joint pain, a cardiologist for palpitations, a gastroenterologist for digestive issues and a urologist for bladder symptoms. Each doctor focuses on the symptoms that fall within their specialty but doesn’t consider the other ailments. “Nowhere along the way does somebody realize that there are certain conditions that could tie all of these things together and explain everything,” says Bluestein.
The 2009 rare diseases study found that during the quest for a diagnosis, 58% of EDS patients consulted more than five doctors, and 20% consulted more than 20.
The consequences of not getting diagnosed for years can be devastating.
Melissa Dickinson, a psychotherapist in Atlanta, Georgia, says she experienced symptoms of a “mystery illness” since childhood. Then in 2013, she “went on honeymoon to Mexico, relatively healthy, and came back disabled and with a dislocated neck.”
While on vacation, Dickinson says she got food poisoning and was prescribed ciprofloxacin, an antibiotic that can pose a serious risk of aortic aneurysm to people with EDS. Instead, she says it triggered significant nerve damage, digestive issues that almost made her go blind because her body wasn’t absorbing nutrients, and put her in a wheelchair.
Dickinson, who finally received her hEDS diagnosis in 2014, says taking the wrong medication “wrecked me from head to toe.” Now that she’s receiving treatment, “I can walk with mobility aids, but most of my body has to have constant support to function.”
Lara Bloom, president and CEO of The Ehlers-Danlos Society, who herself has hEDS, says many patients have “medicalized PTSD.”
“They have had to stop their careers, they’ve had to drop out of school, their relationships have broken down.” The delay inevitably results in worsening symptoms and a declining quality of life, she says. In worst-case scenarios, patients “are dying by suicide, they’re self-harming.”
Sometimes, the failure to diagnose EDS has led to children being taken away from their parents.
In 2010, Americans Rana Tyson and her husband Chad were falsely accused of harming their 4-week-old twin daughters, who had unexplained fractures in their legs.
Along with their older sister, the baby girls were taken by state authorities in Texas and sent to live with relatives. “It was the worst day of my life,” Tyson tells me in a phone call.
Five months later, a geneticist identified the twins as having a connective tissue disorder, and they were subsequently diagnosed with EDS and a vitamin D deficiency. The family was reunited but “12 years later, it still hurts,” says Tyson.
Bloom says some other parents of children with EDS have been wrongly accused of “fabricated or induced illness (FII)” — a rare form of abuse, formerly known as Munchausen’s syndrome by proxy, in which a parent or care giver deliberately causes symptoms or tries to convince doctors that a healthy child is ill.
Ellie Pattison, a 19-year-old student who lives in County Durham, England, suffers from severe digestive issues linked to hEDS.
Throughout her childhood, Ellie was repeatedly misdiagnosed as having an eating disorder, she says, while her mother Caroline was accused of FII on three separate occasions. Caroline successfully fought to keep her daughter at home, says Ellie, but the ordeal has left the whole family with “an unimaginable amount of trauma.” Ellie says she suffered from PTSD and endured years of horrific nightmares, triggered by living with the fear from a young age that she could be forcibly separated from her family.
This underlines why prompt diagnosis is so important, says Bloom. “Our hope and dream is for people to get diagnosed when their symptoms begin.”
The search for answers
In the case of hEDS, a crucial first step is to find out what causes it.
Cortney Gensemer, a biomedical scientist in the Norris Lab at the Medical University of South Carolina’s department of Regenerative Medicine and Cell Biology, is trying to solve this mystery. She and research mentor Russell Norris, head of the lab, have been studying a gene mutation they believe causes hEDS (the results of the study are currently under peer review).
Like Poppy, Gensemer was diagnosed with hEDS as a teenager. She says the disease affects every aspect of her work. Looking down a microscope is particularly painful at times — her neck is unstable because of her hEDS, and she’s had metal screws put into some of her neck vertebrae to fuse them.
Norris kitted the lab out with special equipment, including motion sensor doors (standard lab doors are very heavy), adjustable chairs and ergonomic pipettes that are gentle on the hands. “If I didn’t have all that stuff, I don’t think I’d be able to do it,” says Gensemer.
To find a hEDS-causing gene, Gensemer says she and Norris sampled DNA from a large family with cases spanning four generations and looked for a mutation that appears only in relatives who have the disease. They identified a “strong candidate gene” and inserted it into mice using gene editing tools.
Gensemer and Norris found that the hEDS mice had significantly more lax tissues, and floppier tails than regular rodents. “You can tie a loose knot into the mutant mouse tail. With a normal mouse tail, you can (only) bend it into a circle,” Gensemer says.
The gene that Gensemer and Norris found won’t account for all hEDS cases, she says. They believe that eventually multiple genes will be identified, and hEDS may be split into different subtypes. This would help to explain why different patients have different symptoms. Crucially, if genetic information sheds light on how the connective tissue is “messed up,” it could lead to effective treatments, says Gensemer.
The Ehlers-Danlos Society is also looking for genes as well as blood markers, working with a team of experts to sequence and analyze the DNA of 1,000 hEDS patients from around the world. And at the UK’s University of Warwick, Ph.D. candidate Sabeeha Malek, another scientist with hEDS, has proposed that EDS might be caused by a fault in the way that collagen binds to cell membranes in connective tissue. If she’s right, she hopes her work will lead to a skin biopsy test that could identify all forms of the disease.
Progress is being made but on a very small scale. “If you look at any major academic institution, there are multiple labs studying cancer, multiple labs studying heart disease. When you look at a disease that affects one in 500 people, and probably more than that, there should be a lab studying it at every single academic institution,” says Gensemer.
Gensemer hopes that as more discoveries are made and data is accumulated it will “change the way the medical community looks at the disease” — and that it will be taken more seriously.
A giant kitten for my zebra
A year has passed since Poppy’s diagnosis. The initial shock has subsided, and while I’m still grieving the loss of her health, we’ve both learned to accept our new reality and have adjusted to living with EDS.
I’ve assembled a team of supportive doctors and therapists and acquired an arsenal of paraphernalia to fight pain and manage symptoms, including braces and kinesiology tape to hold her joints in place; ice packs, heat pads, tiger balm and arnica gel for sore muscles; and a cupboard full of medications and supplements.
With Poppy often stuck at home, I also got her a giant kitten that she calls Bagel, and he provides the best therapy.
Writing this article has taught me a lot more about EDS: It’s been upsetting to report on the terrible experiences some have suffered, but I’ve been awestruck by the dedication of people, many with the condition themselves, who are working to find solutions.
I don’t know what the future holds for Poppy. Some patients’ symptoms improve with age; others experience an increase in pain and a loss of mobility. I’ve learned there’s a limit to what we can control but there’s a lot we can do, to tackle symptoms and make life easier. And I believe that change is coming.
With a better understanding of the condition and diagnostic tools on the horizon, my biggest hope is that there will be a cure one day — and that it will come in time for Poppy.
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