ouise Carroll was just 7 years old when an accidental bump into a sofa turned into a major injury. Most kids might have ended up with a bruise or a scrape; Carroll dislocated her knee. Then she popped it back into place.
That is Carroll’s first memory of what would become a common occurrence: An everyday mishap causing major, and painful, damage to her knees, wrists, and other joints. Yet it took half a century — and consultations with doctors on the other side of the globe — to figure out why Carroll, now 59, was so prone to injury.
It didn’t take long for Carroll, who lives in Auckland, New Zealand, to adapt to her strangely flexible joints. As a teenager, she developed elaborate techniques using bandages and tape to anchor her legs and wrists in place.
“I learned in my late teens to wear long trousers so nobody would know I’d had to bandage my legs,” she told STAT by phone. In addition to causing dislocated joints, ordinary movement could stretch her delicate skin and tendons, sometimes leading to excruciatingly painful bleeding within the joints.
Constant joint damage soon took its toll. In fact, by the time Carroll was in high school, she needed surgery to help stabilize one knee.
Yet the worst part, she said, was that so many people — from friends and family to physicians — did not believe she was suffering.
“The pain could be tremendous,” she said. “But I had to hide it because people didn’t believe I had a problem.”
For decades, many doctors were unsure of what to make of Carroll’s stretchy skin, flexible joints, and constant pain. And starting around age 30, other health problems popped up: hearing loss, then autoimmune disorders — “a new one every decade,” she said — such as thyroid disease, which can cause weight gain and sluggishness.
Carroll said she was labeled with what she calls “quack diagnoses,” dismissive catch-alls ranging from fibromyalgia to psychiatric pain syndromes. Doctors brushed off her complaints of fatigue, for example, until tests found that her blood counts were dangerously low due to what turned out to be pernicious anemia, another autoimmune disease.
“Instead of seeing a psychiatrist, they needed to send me to a hematologist,” she said.
Carroll estimates she saw a hundred doctors in her native New Zealand, from orthopedists to rheumatologists. All failed to connect the dots of her symptoms.
Yet Carroll knew something truly was wrong, and her general practitioner did too, though he couldn’t pinpoint what. Most important, he believed her pain was real.
Almost 50 years into her saga, her doctor deduced that Carroll’s stretchy joints might mean she could have a disease called Ehlers-Danlos syndrome, or EDS. This disorder of the body’s connective tissue comes in a few varieties; one of them is characterized by extreme flexibility that causes damage to the joints. The disease affects 1 in 2,500 to 1 in 5,000 people and has no predilection for any particular gender, race, or age group.
Carroll was elated at the possibility of finally having an answer. A rheumatologist she saw, however, was not convinced.
“I was told I wasn’t sick enough to have EDS,” Carroll said.
Yet she so strongly suspected she had the disease that she flew to Texas in July 2014 for an EDS conference to learn more. There, she met people with the disorder and specialists, eventually connecting with Dr. Clair Francomano, a medical geneticist at Greater Baltimore Medical Center in Maryland experienced with managing EDS.
A short time later, Carroll traveled to Baltimore to meet with Francomano. The specialist determined that she met the criteria for the hypermobile type of EDS based on her symptoms and a checklist known as the Beighton scale, which evaluates for very flexible joints.
Finally having a diagnosis, Carroll said, was a huge relief — at last, her stretchy skin and joints made sense. So did her hearing loss, because patients with EDS are more likely to be hard of hearing than others. And so did the many autoimmune diseases that plagued her: EDS isn’t an autoimmune disease, but it’s linked to a higher risk of having these disorders.
An all-too-common story
Carroll’s long, circuitous journey to a diagnosis is far from unique. In fact, it’s common for patients with EDS to suffer from unexplained symptoms for decades before getting a diagnosis, Francomano told STAT.
“A lot of people hear that it’s all in their head, and that there is no physiologic basis for their symptoms,” Francomano said. “Particularly if they’re healthy-looking young women, unfortunately there is a tendency to dismiss their experience.”
Although there are genetic blood tests for some types of EDS, there isn’t one for the hypermobile variety, and imaging isn’t helpful either. Instead, the diagnosis is contingent upon symptoms and physical exam findings. The Beighton criteria aren’t complicated, but to assess for them, a doctor needs to have EDS on the list of possible explanations for symptoms that may appear unrelated. Too often, it’s not considered.
It wasn’t surprising, then, that clinching the diagnosis required perseverance on Carroll’s part, despite enduring symptoms that were sometimes so excruciating she wasn’t sure she could go on.
This ongoing agony — and the struggle to get others to believe it — took a mental and physical toll.
“The saddest thing about my life has been the necessity to hide my pain and suffering to ensure I was not labeled by the medical profession as being a psychiatric case,” she said in an email.
The isolation and constant de-legitimization of her symptoms nearly broke her, Carroll said: “If I had laid down and taken everything that was handed to me, I probably would’ve killed myself.”
Putting her body back together
Getting a diagnosis is hardly the end of the road for Carroll and other patients with EDS.
Carroll spends much of her time in a wheelchair to keep her hip and spine joints stable; she walks with a cane and wears a brace to keep her back bones in place. Yet she’s far from inactive and is determined to stay that way as long as possible.
“With this condition, once you give up walking, you’re stuffed, basically,” she said. “You’ve got to keep active as long as you can.” For exercise, Carroll walks or bikes most days, or occasionally swims, although after 20 minutes, her joints begin to dislocate.
“My life is spent putting my body back together on a daily basis,” Carroll said.
“My life is spent putting my body back together on a daily basis.”
Many with EDS also suffer from lightheadedness and digestive issues, and those with the vascular type of the disease are prone to deadly blood-vessel and organ rupture. Fatigue, too, is pervasive, and is often the symptom patients with all types of EDS find most bothersome.
“They can live with the pain,” Francomano said. Yet the fatigue — which may stem from exhaustion from chronic pain and the work it takes to keep an extra-flexible body aligned — “is what takes them out,” she said.
For patients with unexplained symptoms, Carroll emphasizes the importance of continuing to search for a diagnosis — even if that means traveling long distances.
“Stand up for yourself, and if you’re not getting the care that you need where you are, go and find it somewhere else,” said Carroll, who still lives in New Zealand but considers Baltimore-based Francomano her primary EDS doctor. She estimates she has spent hundreds of thousands of dollars on overseas travel and medical care to diagnose and treat her EDS.
“Some doctors here find it difficult that I’m under the care of an international specialist,” she said. “But they had 50 years to figure it out.”
Allison Bond is a hospitalist at Massachusetts General Hospital. If you have dealt with a diagnostic puzzle that has been solved, either as a caregiver or a patient, please email Allison at firstname.lastname@example.org.