The Disorder You May Not Know You Have
'Whatever it is, it's not going to kill you,' doctors said. Really?
Most people have a list of health-related “justs.”
“My skin just bruises easily,” or “I’m just clumsy.”
Maybe they “just get dizzy” now and then when they stand up, too — but everyone has that, right?
The average time between symptom presentation and proper diagnosis for an EDS patient is an estimated 20 years.
My list has included the above and a whole lot more since I was a child. Chronic nausea and depression began in grade school — my first-grade teacher predicted I would have an ulcer by the time I was 16. She was right.
Age 16 brought a mood disorder misdiagnosis to account for my anxiety. At 28, chronic hip and lower back pain began. Two MRIs, CT scans, blood work, a battery of other tests, and arthroscopic surgery identified nothing “physical.” Various doctors said of various symptoms, “Whatever it is, it’s not going to kill you. You’ll be fine.”
I knew I wasn’t fine. But nothing was truly wrong, right?
It wasn’t until a motorcycle accident worsened an already painful sacroiliac joint in my pelvis that I finally sought a geneticist’s diagnosis. It turns out all of my seemingly random symptoms are caused by Ehlers-Danlos syndrome (EDS), a heritable family of genetic connective tissue disorders that alter how the body processes and creates collagen.
Since collagen makes up at least 30 percent of the body — it’s found in our brains, bones, skin, ligaments, tendons, blood vessels, muscles, and cartilage — EDS symptoms can be significant and seemingly random. Dr. Heidi Collins, an EDS expert and patient herself, has written, “If you can’t connect the issues, think connective tissues.”
- Overly flexible joints
- Stretchy skin
- Damaged skin that doesn't heal well
Shani Weber, 47, of Mount Airy, Maryland, has a similar story. At 16, after a doctor told her that she did not have Marfan syndrome — a related condition — he deemed her “fine.”
She attributed her pain to gymnastics training and went on with life, though her “just” list was significant. She told LifeZette that she had “lots of diagnoses for each symptom separately. Each knee had its own diagnoses of instability and tendonitis. My blood pressure drops were diagnosed as orthostatic hypotension. My shoulder was diagnosed with bursitis. And on and on.”
Doctors could not connect her problems until after an accident, when her shoulder would not heal.
“I spent countless hours googling to try to learn why I was not improving. I stumbled upon EDS and it was a perfect match for my lifetime of joint issues, extreme hyper-mobility and more.” After educating herself and her physician about EDS and waiting a year to see a geneticist, she was finally properly diagnosed.
Common misdiagnosis include chronic fatigue syndrome, seronegative rheumatoid arthritis, irritable bowel syndrome, depression, and more.
Proper diagnosis is crucial because physical therapy and many other standard treatments for long-term pain can actually cause more damage in someone with EDS.
EDS hypermobility type is the most common of the disorders — although it is still quite rare. Statistics say it affects one out of every 2,000 to 5,000 people, but extensive clinical observations indicate otherwise.
“It’s definitely more common than people think,” said Mayo Clinic geneticist and EDS expert Dr. David Deyle. “People with long-term pain can actually have hypermobility type, but be misdiagnosed with fibromyalgia.”
Other common misdiagnosis include chronic fatigue syndrome, seronegative rheumatoid arthritis, irritable bowel syndrome, depression, and though less commonly, even multiple sclerosis and lupus. Still, the “diagnosis” of hypochondria is all too common.
“I have made a number of patients cry when I’ve told them, ‘You do have something, and this is not in your head, unlike what doctors have been telling you for the last 30 years.’ For a lot of my patients, it’s the relief of someone actually listening to what they’re saying and believing it,” Deyle added.
Some experts believe hypermobility EDS might be as common as one in every in 500 to 1,000 people, as EDS is a spectrum disorder that presents various degrees of severity. But because so few physicians are aware of it, EDS usually goes misdiagnosed. The average time between symptom presentation and proper diagnosis for an EDS patient is an estimated 20 years.
If you believe you might have this condition, educate yourself — then educate your physicians. Comprehensive information on EDS types and symptoms can be found at ehlers-danlos.com. Being proactive in your search for answers just might spare you years of pain and a whole lot of "justs."
Meredith Whitmore is an English professor and freelance writer in the Pacific Northwest.