MCLEAN, VA – New diagnostic criteria for Ehlers-Danlos Syndromes (EDS), also called EDS or simply Ehlers-Danlos Syndrome, released in early 2017, give physicians clearer and more concise criteria by which to identify EDS patients than previously available.
The illness actually is a “group of connective tissue disorders that can be inherited and are varied in both how they affect the body and in their genetic causes,” according to the Ehlers-Danlos Society, a Virginia-based nonprofit aimed at raising awareness and educating patients on EDS.
In the United States, the National Institutes of Health (NIH) defines a “rare disease” as one that impacts “fewer than 200,000 Americans.” The definition of rare diseases in the United Kingdom, where significant research is being done on EDS, is an illness that afflicts no more than 50,000 people living there.
The average person with any rare disorder sought a diagnosis for 4.8 years, according to Shire, a leading biotechnology research group focusing on treatments for rare diseases.
Claire Smith, author of Understanding Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder, said that EDS patients often are well-versed on their illness because they have to be. “The concept of the ‘expert patient’ is perhaps nowhere better developed than in the hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder community. However, trying to navigate the sheer volume of material available can lead to information overload.”
“I’ve had EDS symptoms since childhood with my first true dislocation at age 24,” said Farrah Baynes, a former nurse who is now a patient advocate for people with EDS and related illnesses. “I initially was incorrectly diagnosed.” Baynes received an EDS diagnosis at age 33.
“I was officially diagnosed with EDS about three years ago,” said Teri Sews, of Raleigh, NC, who has the hypermobility sub-type of EDS.
“I was diagnosed by accident,” Sews explained. “Four days in the cardiac unit while they tried to figure out what was going on because it was not a heart attack, and I was not stable. It took three weeks to get a diagnosis. Again, this is super-fast compared to most people.”
In fact, Shire reports that people with rare illnesses see an average of 7.3 doctors before they receive an accurate diagnosis. In fact, researchers in Germany have reported a mean time of six years for diagnosis and indicate that most patients receive multiple incorrect diagnoses during that time.
“The route to diagnosis may depend on many factors, including the patient’s [general practitioner’s] own knowledge of heritable disorders of connective tissue,” said Smith, who works as a Partnership Director at the Hypermobility Syndrome Association.
Part of this difficulty is that disease like EDS span various body systems. The new criteria – called nosology in medical literature – includes a range of symptoms, including the hypermobility (or over-flexibility of joints), hyperextension of the skin, easily-scarring skin, abnormal wound healing, carotid spasms, delayed motor development, and rectal prolapse. While the NIH did not create the diagnostic criteria, they support its use.
These symptoms include problems with various body systems, resulting in the need for clarified diagnostic criteria, according to the Ehlers-Danlos Society.
“The specialist thing keeps a lot of people from being diagnosed,” Sews said. “You have to find someone who looks at the whole picture, which is not easy to do.”
The Ehlers-Danlos Society is the pre-eminent organization in the nation aimed at addressing this specific illness. The society currently partners with the Greater Baltimore Medical Center’s genetic institute to help improve research and patient care for EDS. The institute provides resources to patients, including listings of providers and support groups around the country and free research information for patients and their parents.
“Many doctors are intimidated by a patient who is active in their care,” Baynes said of her experience. “We all should work to educate ourselves about rare disorders because rarely diagnosed doesn’t necessarily mean rare.”
The goal is to aid patients and family members of people with Ehlers-Danlos. “While there is no cure for the Ehlers-Danlos syndromes,” the organization’s website proclaims, “there is treatment for symptoms, and there are preventable measures that are helpful for most.”
That understanding is key for Sews in talking to other people about the illness.
“Some things can’t be fixed,” she said. “We live in an age of incredible medical advances. I think people assume doctors can fix everything. No one has a perfect life. We all have things to handle, and this is mine.”
I'm a recovering journalist now living a Renaissance life working as a writer & political strategist. I also am the mom to 2 children, one of whom has autonomic dysfunction & Hypermobility Spectrum Disorder, I write about politics and healthcare in North Carolina.