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.”
RALEIGH – Dozens of North Carolinians gathered outside Senator Thom Tillis’ satellite office June 27 in the state’s capital to protest the Republican-sponsored Better Care Reconciliation Act (BCRA) being considered in the U.S. Senate.
The rally, organized by Protecting Progress in Durham, is one of a series of “Tuesdays with Tillis” meetings at the Senator’s office. The event focused attention on issues important to the group. At this meeting, healthcare took top billing. That day Protecting Progress volunteers created a “Wheel of Misfortune” geared toward people who could lose health insurance or access to medications if various provisions of the Senate healthcare plan are enacted.
One member of the audience, Walter Bowden, came up to the microphone to discuss his life with type 1 diabetes. This illness results from the pancreas’ inability to make insulin, which breaks down sugars in foods. If diabetes is left untreated, the disease can result in organ failure, limb loss, and death if not treated.
“I use a continuous glucose monitor and an insulin pump,” Bowden told the crowd. “I also take insulin that is very expensive. Without insurance, I would not be able to afford insurance and would die.”
Diabetes is considered a pre-existing condition, according to BCRA. Although new medications come onto the market often, they typically have a hefty price tag. Novo Nordisk, a Danish company with U.S. headquarters in New Jersey, recently introduced a long-acting insulin under the tradename Tresiba.
Unlike other basal insulins which have a 24-hour slow release into the body, Tresiba’s release curve is 96 hours, according to information provided on the medication’s website. Tresiba gives both type 1 and 2 diabetics more control over insulin levels. This medication can be expensive, however, with a retail price of more than $500 monthly for someone who does not have insurance coverage.
The Centers for Disease Control estimates that 9.3 percent of Americans have some form of diabetes. In North Carolina, with a population of 10.1 million people, an estimated 944,000 people have this illness. Each of these people incurs an annual estimated expense of $7,900, according to the American Diabetes Association.
The goal of the “Tuesdays with Tillis” protest, according to a Protecting Progress event page, was to discourage the passage of the healthcare bill. “We, as North Carolinians who value quality, affordable healthcare for all, do not accept the Senate’s cruel healthcare bill,” said the group’s event page.
Similar rallies around the nation and concern from both Republican and Democratic legislators prompted Senate Majority Leader Mitch McConnell (R-Ky.) indicated on June 27 that he would postpone a vote on the bill until he felt more confident in its passage. Following a July 4 recess, McConnell again delayed a vote, citing Senator John McCain’s (R-AZ) health and expected absence from the vote as the reason.
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.