Chronic pain. Extra-flexible joints. Stretchy skin. These are just some of the symptoms of the debilitating genetic disorder that’s incredibly hard to diagnose.
Ehler-Danlos Syndrome refers to a set of inherited disorders affecting connective tissue, such as skin, joints, and the walls of blood vessels. Hypermobility is one of the most common presentations of EDS.For 41-year-old Baltimore physician Alissa Zingman, the first confusing symptoms—dislocated kneecaps and chronic pain—began when she was a child; by age 19 she had already undergone two orthopedic surgeries.
Most forms of EDS are characterized by hypermobile joints and stretchy, velvety skin, but symptoms of the disorders vary. The most common subtype, hypermobile EDS , involves joint instability, dislocations, joint pain, and fatigue. “Getting a diagnosis changed everything,” she says. “I now knew that my symptoms were real and that there had to be a way to get myself better.”Self-advocacy and integrated health care made it possible for Zingman to finish her medical residency, and after watching her slowly rehabilitate herself, Zingman’s EDS physician suggested she start her own practice devoted to treating the conditions.
That wouldn’t be possible without grassroots advocacy from EDS patients and caretakers committed to pushing research and treatment forward. Peer support ranges from ato in-person groups at hospitals and clinics. Patients who went without diagnoses or effective treatments for years can direct one another to providers and provide empathy and anecdotal evidence from their own experiences.
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