When other kids tripped, they got back up. When Lara Bloom tripped, she got sent to the hospital. When other kids opened a jar of mayonnaise, they spread the contents on their sandwiches. When Bloom opened a jar of mayonnaise, she fractured her wrist. When other kids asked why she was always on crutches, Bloom wished she knew.
“I remember my friends not getting it; feeling very isolated and alone. No one understood — I didn’t even understand,” says Bloom, now a 36-year-old in London who estimates having broken her wrists 30 times in childhood. Using crutches to support her also injury-prone ankles only strained her wrists — which were eventually stabilized with pins — further. “It was just a vicious cycle of constant pain and no answer to any of the questions I had,” she recalls.
Bloom finally got an answer about 12 years ago at age 24, when she was diagnosed with Ehlers-Danlos Syndrome, a heritable cluster of disorders that can affect connective tissues like the skin and joints. More than “stretchy skin and bendy joints,” as Bloom puts it, the condition is often accompanied by symptoms including pain, fatigue, and digestive and psychological distress, as well as other chronic disorders like Postural Orthostatic Tachycardia Syndrome, or POTS. Some untreated patients may even have a greatly shortened lifespan if the condition affects their heart valves and leads to rupture. Bloom, for one, now attributes her constant childhood fractures and joint pain to the fragility of her soft tissues, which couldn’t properly support her bones.
“For years I’d been told that nothing’s wrong, and [I knew] deep down that I wasn’t an anxious person, I wasn’t a depressed person, I wasn’t imagining what was going on — it was very, very real,” Bloom says. “And finally finding out that there was a reason for everything I’d gone through as a child growing up was a real relief.”
Research suggests Ehlers-Danlos Syndrome, which can manifest in several forms, may affect as few as 1 in 5,000 people, according to the Ehlers-Danlos Society, an international nonprofit dedicated to raising awareness of and funds for studying the condition. But anecdotal and clinical evidence suggests it affects as many as 1 in 100, says Bloom, the society’s co-executive director, since many people are simply mis- or under-diagnosed.
And while more professionals — from dentists and physical therapists to psychiatrists and gastroenterologists — are beginning to recognize EDS as a possible culprit of various medical and mental health issues, “the problem,” says Dr. Brad Tinkle, medical director of clinical genetics at Advocate Children’s Hospital in the Chicago area, “is [that awareness] is not translated into a lot of patients feeling like they’re being heard and taken care of.”
Unknown Causes and Complicated Consequences
Of the various forms of EDS, health care providers and scientists seem to know the least about the hypermobile variety, which is by far the most common. “Almost all the others have genes associated with them,” says Dr. Peter Byers, a professor at the University of Washington School of Medicine in Seattle, where he studies heritable disorders of the bone, blood vessels and skin. But while there may be a genetic component to hypermobile EDS, which tends to run in families, experts don’t know precisely what it is.
They also don’t know which symptoms often seen in EDS patients — think joint pain, sensory problems, severe fatigue, low blood pressure and digestive issues — are due to the EDS itself, some other condition accompanying it, a third-party cause like a virus or a lack of proper management. Plus, experts say simply labeling all people with hypermobility as EDS patients can make over-diagnosis as much of a problem as under- or misdiagnosis.
“Hypermobility is just a symptom, and when you tell someone they have EDS, unfortunately that leads to a lot of other problems,” says Dr. Brad Landry, a pediatric rehabilitation specialist at the Mayo Clinic in Rochester, Minnesota. For example, patients may assume they’re at risk for fatal heart conditions that only affect people with a rare form of EDS or attribute all of their health issues to the condition rather than seeking more suitable care.