Shining a light on a ‘Complicated’ disease: Ehlers-Danlos syndrome

In the world of complex diseases, few conditions are as misunderstood – and as life-altering – as Ehlers- Danlos syndrome (EDS). The eagerly anticipated EDS documentary “Complicated” debuted in February at the Slamdance Film Festival in Los Angeles, marking a pivotal moment in raising awareness about this complex, multi-system disorder. Among those in attendance was Chip Norris, Ph.D., a leading EDS and heart researcher at MUSC, whose pioneering work is positioning MUSC at the forefront of cutting-edge discoveries in connective tissue disorders that will reduce diagnostic delays and help to develop new tailored therapies. 

Why “Complicated” matters 

Directed by Andrew Abrahams and co-produced by Donna Sullivan, “Complicated” is more than just a film – it’s a call to action. It delves into the struggles of patients and families navigating EDS, shedding light on the medical skepticism, misdiagnoses and a lack of research funding that have plagued their community for years. 

EDS, a group of heritable connective tissue disorders, affects the body’s collagen – the protein that provides strength and structure to skin, joints, blood vessels and organs. Despite its significant impact on patients’ lives, EDS has long been dismissed as a “rare” condition, leading to underdiagnosis and limited treatment options.

The documentary doesn’t just tell personal stories – it features leading experts working to change the landscape of EDS research, including Norris and his team at MUSC, whose work is redefining what we know about hypermobile EDS (hEDS). 

“Being part of ‘Complicated’ is an incredible honor,” said Norris. “This film is giving a voice to a community that has been overlooked for far too long. Seeing the resilience of these patients firsthand has only strengthened my commitment to this research. We are on the cusp of major discoveries, and I couldn’t be prouder to contribute to something that will change lives.” 

The struggle to be heard 

For many living with hEDS, the hardest battle isn’t just the chronic pain or joint dislocations – it’s what they see as the years of medical gaslighting. On average, it takes 15 years to receive a diagnosis, with patients cycling through countless rounds of doctors, being misdiagnosed and receiving anxiety labels or vague explanations for their debilitating symptoms. Experts agree that too few physicians understand the full impact of the condition, leaving patients to self-advocate, research and beg for answers while their conditions worsen. “Complicated” doesn’t just tell their stories; it demands that the medical community finally listen. 

MUSC: Leading the way 

For years, hEDS – the most common yet most mysterious form of EDS – has lacked a known genetic marker. This has left patients frustrated, searching for validation and proper care. Now, thanks to the pioneering work of Norris and Cortney Gensemer, Ph.D., that may be about to change. 

Norris and his research team have made groundbreaking discoveries in the genetics, biomarkers and causes of hEDS, challenging longstanding misconceptions. Their research has:

• Identified genetic and blood markers for hEDS, a discovery that could lead to a definitive diagnostic test.
• Uncovered critical insights into how EDS affects tissues at a molecular level, paving the way for targeted treatments.
• Challenged outdated medical beliefs that hEDS is simply “benign hypermobility,” proving that it has far-reaching effects on the vascular, neurological, immunological and gastrointestinal systems. 

Gensemer, a leading researcher in the Norris Lab, has played an essential role in this research. As a scientist
and an EDS patient herself, she brings both expertise and lived experience to the field, making her work deeply personal and profoundly impactful. 

Connecting the connective tissue dots 

Yes, most hEDS patients are incredibly bendy, effortlessly doing splits, touching the floor with their palms or contorting their bodies. But one of the biggest challenges with hEDS is how widely its symptoms vary, often leading to misdiagnoses and fragmented care. While it can manifest as chronic, debilitating pain; gastrointestinal issues like IBS and gastroparesis; endometriosis; chronic fatigue; and pregnancy complications, it’s also frequently linked to co- occurring conditions like postural orthostatic tachycardia syndrome (POTS), mast cell activation disease (MCAD) and vision and dental issues. 

The reason? “We don’t know,” Norris said. “We don’t even have a good definition for hEDS, and although connective tissues are clearly affected in these patients, it is not entirely clear that this disease and its various comorbidities are caused by a disruption of the connective tissues to begin with. Is it possible that the connective tissues are a consequence of something else, like autoinflammation or mast cell issues? I think this needs to remain a possibility until proven otherwise.” 

Like a giant puzzle with no picture on the box to follow, answering these questions and understanding how these symptoms intertwine is critical for improving diagnosis, treatment and ultimately, patients’ quality of life. 

But no one is giving up. MUSC recently recruited renowned MCAD and EDS specialist Anne Maitland, M.D., Ph.D., a key step in connecting these dots and bridging the efforts of research and clinical care. Maitland, who was also featured in “Complicated,” brings both international expertise and advocacy to her role. She recently took to social media to underscore the message of the film: “How peaceful, productive, and prosperous lives – of too many of us – are denied by men and women, ‘medical providers,’ who took an oath to ‘do no harm,’ she wrote, with the hashtags #medicalgaslighting #EDS #mastcelldisease #MCAD #POTS. 

“Complicated,” she explained, highlights the urgency of ongoing research, which will accelerate education, diagnostics and potential therapies. “In the words of Lord Kelvin over a century ago, ‘If you can’t measure it, you can’t change it.’ Through science, education and collaboration, MUSC will be a beacon of hope and wellness in the care of patients with complex, complicated medical issues.” 

Maitland identified two challenges in the care of children and adults with EDS. First, the severity and range of symptoms vary widely from patient to patient. This, coupled with limited provider education and a health care system not equipped to treat those who don’t fit neatly into diagnostic categories, often leaves patients without meaningful care. Second, the culture of medical education itself presents a barrier. The outdated ‘see one, know one, teach one,’ medical training offers little exposure to connective tissue disorders, with most students receiving only a lecture or two early in medical school. This contributes to a widespread lack of awareness about EDS and its frequent co-travelers, MCAD and POTS. 

Echoing the sentiment, “If you can’t connect the issues, think connective tissue,” Maitland has begun collaborating with specialists across disciplines at MUSC. “Our goal is to become a national leader in the diagnosis, management and education of all that is EDS,” she said. “And to provide a safe home for these patients – one where they are understood, believed and given the care they deserve.” 

Sunil Patel, M.D., chair of the Department of Neurosurgery and a key figure working to solve the complex puzzle these patients present, was also interviewed for“Complicated.” 

A longtime collaborator with Norris’ team, his department has consistently supported the lab’s work. Patel manages a significant number of EDS patients facing complex spinal neurosurgical challenges, including Chiari malformation, scoliosis, tethered cord and cervical/ craniocervical instabilities. He has also cared for Gensemer and others from the Norris Lab, giving him a personal connection to the mission. Patel said he’s deeply committed to this patient population and eager to see his efforts support a broader vision – one shared by Norris, Maitland and the institution itself. 

“These patients often endure years of pain, misdiagnoses and dismissal before they find answers,” said Patel. “They deserve a focused, multidisciplinary effort – one that brings together science, expertise and compassion. That’s what we’re building at MUSC.” 

The power of “Complicated” 

The inclusion of Norris and his lab along with Maitland and Patel in “Complicated,” reinforces MUSC’s strength in EDS research. Norris’ presence at the Slamdance Film Festival – alongside the film’s director, producers and mothers of EDS patients featured in the documentary – highlights the growing movement to push EDS out of the shadows and into mainstream medical consciousness. 

While “Complicated” shines a long- overdue spotlight on the struggles of EDS patients, it also brings hope – hope that new research will lead to faster diagnoses, better treatments and a future where EDS patients no longer have to fight to be believed. 

What’s next for EDS research? 

With continued research funding, the work at MUSC could revolutionize EDS care. A confirmed genetic or blood marker would mean:

• Earlier diagnosis, preventing years of possible medical gaslighting.
• New treatment strategies, targeting EDS at its root causes.
• A shift in medical education, ensuring that future doctors understand this complex
  condition. 

Norris hopes that “Complicated” will reach more film festivals and streaming platforms, building awareness and ensuring that the voices of EDS patients are finally heard. 

For those interested in the film, Norris is working with the producers to bring it to MUSC as part of the Neuroscience #MIND 2025 conference, May 30 and 31. One day of the conference will be dedicated to experts discussing their experiences with EDS patients, exploring ways to improve and navigate patient care and contributing to groundbreaking research in the field.