(BPT) - Imagine seeing multiple doctors for multiple symptoms - from joint instability, debilitating fatigue and chronic pain to digestive issues, migraines, even heart problems - only to be told your blood tests came back normal, or your symptoms are unrelated. Many patients are then referred to psychiatry or dismissed altogether, marking the beginning of a patient's years-long search for answers.
This is the lived experience of many people with a condition called Ehlers-Danlos syndrome (EDS), a complex connective tissue disorder in which symptoms that appear unrelated are, in fact, directly connected. Too often, the lack of an explicit diagnosis leaves patients without clear answers, coordinated care or validation.
Researchers at the Medical University of South Carolina (MUSC) are working to change that.
Under the leadership of Russell "Chip" Norris, Ph.D., scientists are using groundbreaking approaches to redefine how EDS is understood. To translate these discoveries into real-world impact, MUSC is in the process of launching a world-class EDS Center, a comprehensive hub for expert care, research and education, led by internationally recognized EDS specialist Anne Maitland, M.D., Ph.D.
Two defining features set MUSC's trailblazing EDS research apart. First, scientists who themselves live with EDS are actively involved in every stage of the research process, ensuring that studies reflect real patient experience. Second, the team's unbiased, systems-level approach has revealed a previously unrecognized immunologic component of the condition, opening new avenues for diagnosis, treatment and long-overdue validation for patients.
The most common disease you've never heard of
Determining exactly how many people have EDS is difficult. The condition includes 13 different subtypes - most of them extremely rare. However, the most common subtype, hypermobile EDS (hEDS), is greatly underdiagnosed and may affect as many as 1 in 500 people in the U.S., disproportionately affecting women. It often first presents during adolescence, a factor Norris Lab researchers assert has contributed to the disease not being taken seriously by many physicians.
Most types of EDS are caused by defects in the body's collagen, a critical structural protein. While many people with EDS share a common trait - hypermobile or "bendy" joints - each subtype is genetically distinct, and symptoms can vary widely from person to person. The disease can affect multiple systems, including the heart, gastrointestinal tract, joints, skin and nervous system, making diagnosis especially difficult.
Because EDS has long been classified as a rare disease, it receives limited attention in medical education. As a result, people with EDS often wait as long as 20 years before receiving an accurate diagnosis - a delay that leaves many feeling unheard and unsupported while their health worsens.
The power of listening
The idea for MUSC's EDS Center began with a conversation. As a professor in the Department of Regenerative Medicine and Cell Biology, Norris regularly opened his office to doctoral students seeking guidance. One of them was Cortney Gensemer, now a Ph.D., who lives with EDS.
"Studying my own disease wasn't something I thought was feasible," said Gensemer. "There was no one studying it."
As Norris listened to her describe how much remained unknown about EDS, including its underlying genetics, the seed was planted for a new way of thinking. Focusing on a large family with multiple individuals affected by hEDS, the team saw a rare opportunity to pursue genetic sequencing on an unprecedented scale. That work ultimately laid the foundation for a genetic registry that now includes more than 15,000 EDS patients.
"Thanks to this work, we were able to seek support from MUSC leadership to develop an innovative EDS Center," said Molly Griggs, program coordinator for the Norris Lab. For Griggs - an EDS patient and mother of teenagers living with EDS - the work is deeply personal. "It's the only center in the world that integrates broad clinical care and comprehensive research for EDS."
From the start, it was vital to Norris, Gensemer and their colleagues that EDS patients be involved at every stage of research.
"The best way to learn is to listen to patients. The central component of everything we do is taking a truly honest approach to patient-centered research," explained Norris. "That means not just having a patient sitting on an advisory board but fully integrating patients into study design, research, publishing and presentations - everything."
Building on that philosophy, the Norris Lab established patient-scientist internship programs that invite individuals living with EDS who are interested in scientific and health care careers to participate directly in research. The programs provide hands-on experience for those exploring paths in graduate education, medicine, nursing and related fields.
"It's crucial for participants to see other patient-scientists at work to understand this is something they can do," said Gensemer, for whom the internship is named. "They see us actively living through the experience of the disease while doing the work. It's incredibly empowering."
The patient-scientist programs include:
Gensmer Hypermobile Ehlers-Danlos Syndrome Intern Program - An eight-week summer internship for students with a personal connection to EDS who are passionate about advancing EDS research and patient care. Participants gain hands-on experience in genetic and molecular research, receive one-on-one mentorship and join a growing network of patient-scientists.
Visiting Scholars Program - A three-day immersive experience that brings small cohorts of four to six individuals living with EDS to the lab. Participants engage directly with researchers, learn about ongoing studies and connect with a community of peers who share lived experience and a commitment to advancing understanding of EDS.
"We've already trained more than 100 students from high school through graduate school to pursue careers as physicians and scientists," Norris said. "While our discoveries in genetics and biomarkers have reshaped how hEDS is understood, our long-term impact will come from training the hundreds of people who will carry this work forward."
The immunology connection
In addition to an ongoing biomarker study aimed at identifying genetic and blood markers for hEDS - work that could lead to definitive diagnostic tests - researchers uncovered something potentially game-changing. By analyzing registry data alongside patients' stories, the team identified a possible connection between hEDS and immune disorders.
"Part of our biomarker study revealed involvement of immune responses, including allergies and mast cell activation syndrome," Norris said. "Our clinical registry also showed that approximately 70% of patients reported triggering events that worsened symptoms or revealed new ones, including Epstein-Barr virus and COVID - indicating this is likely an immunological problem."
By grounding discovery in patient experience, MUSC's approach is already transforming how EDS is studied. With the full clinical implementation of the EDS Center, MUSC will uniquely unite patient-scientists, comprehensive care and translational research - a unique and essential convergence that has the potential to change the future of EDS diagnosis and treatment fundamentally.
Learn more about EDS
Discover the pioneering EDS research at MUSC by visiting TheNorrisLab.com or on social media @thenorrislab.
The complex realities of EDS take center stage in "Complicated," a riveting documentary that features several MUSC EDS experts, streaming on Apple TV beginning March 20.