Advocacy and Awareness
Working Toward Systemic Change
Why We Advocate
EDS is a historically neglected condition that lacks medical awareness and is rarely taught in medical or health professional schools.There is also a lack of federal funding for research into EDS causes and treatments. Our lab has several initiatives to increase EDS awareness, advocate for patients with EDS and to change both funding and health profession curriculum.
Legislative Advocacy
Together with MUSC leadership, the Norris lab seeks to advocate for the EDS community at the local, state, and federal level. By increasing both awareness and funding for EDS research, we can accelerate discoveries and improve patient care.
Through these efforts, we've helped introduce language about EDS to the House Appropriations bill encouraging increased NIH funding for research.
"Hypermobile Ehlers-Danlos Syndrome —Hypermobile Ehlers-Danlos Syndrome (hEDS) is an autosomal dominant connective tissue disorder that attacks connective tissues in nearly every organ System. Data from the NIH All of Us research program shows hEDS has a disease prevalence of approximately one in 300. This chronic condition initiates during adolescence or earlier and disproportionately affects females (90 percent versus 10 percent male). Patients with hEDS progress from a normal, active lifestyle to one filled with surgeries and, in severe cases, to becoming wheelchair bound. hEDS takes an average of 14 years to diagnose, partially due to the lack of a clear genetic marker and very little clinical and research attention to date. Patients suffering from hEDS are typically young girls, who undergo an average of six surgeries before reaching the age of 25.
The Committee is aware that researchers recently identified the first disease gene for hEDS and have developed the first hEDS animal model. In order to continue strides forward and expedite translational discoveries of cures, treatments and diagnosis, the Committee encourages NIH to increase support for hEDS related research at academic medical centers where hEDS patients are being treated. This investment could help lead to diagnostic markers of disease and provide the basis for long-term sustainable research programs. In addition, the Committee encourages NIH to evaluate the best approach to establishing multi-institution centers that can serve as regional institutes to spur earlier diagnosis and improved treatment, care, education and mechanistic understanding of hEDS."
For the upcoming fiscal year, MUSC has once again requested that funding for EDS research and patient care be prioritized.
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We'd like to thank Senator Tim Scott for his attentive engagement!
His summer newsletter highlighted EDS, bringing greater awareness of the illness to the public.
Senator Scott additionally allowed his team to visit the Norris lab recently for an in-depth exploration of the research and initiatives underway here.
Shayne Woods, senior legislative assistant, and Kaitlyn Illsley, regional director for the Lowcountry, (both pictured here with the Norris lab and Dr. Sunil Patel) spent time hearing about the challenges facing the EDS community and discussing future directions of advocacy, funding, and patient care.
We thank both Senator Scott and his team for their time and attention to EDS!
Increasing Awareness
In an effort to elevate the national conversation around EDS, the Norris lab works with local and national news organizations, podcasts, book authors, and other media outlets to produce and publish compelling and scientifically accurate content about EDS and its related comorbidities.
Advocating for Patient Care
While EDS has gained recognition in recent years, there remains a significant gap in medical knowledge and understanding of the condition. This lack of awareness and expertise has profound consequences for patients living with EDS, impacting their diagnosis, treatment, and overall quality of life.
The Patient Experience
Due to the lack of awareness among healthcare professionals, individuals often spend years, sometimes decades, seeking answers to their unexplained symptoms, with an average time to diagnosis of 14 years. Once diagnosed, the lack of medical knowledge about EDS often leads to inadequate or inappropriate care. Many healthcare providers are unfamiliar with the specific needs of EDS patients and may inadvertently worsen their condition through poorly-informed treatment choices. This can lead to increased pain and disability, further eroding the patient's quality of life.
Living with a chronic, poorly understood condition like EDS can take a profound toll on a patient's mental health. The journey to diagnosis is often marked by frustration, doubt, and isolation. Patients may struggle to maintain relationships and employment due to their unpredictable symptoms, which can exacerbate feelings of hopelessness and depression. The emotional toll of living with an under-recognized and under-studied condition cannot be underestimated.
Addressing the lack of medical knowledge about Ehlers-Danlos Syndrome is crucial for improving the lives of those affected by this condition.
Healthcare Curriculum
The Norris lab has successfully changed the way medical schools in South Carolina teach on EDS! We recognize that prioritizing EDS education in medical schools and other healthcare institutions is a foundational step toward better recognition, diagnosis, and management of EDS. By working to bring up to date understandings of EDS to lectures, text books, and licensing exams, we hope to equip healthcare professionals with the knowledge they need to properly diagnose and care for patients with EDS.
Operation Upright
Norris lab member Sydney Severance recently raised $1.2 million to bring an upright MRI machine to MUSC. Her efforts to raise awareness of and success in filling this need have not only enhanced the diagnostic capabilities of our institution but have also demonstrated the profound impact that dedicated individuals can have on improving healthcare access and outcomes for our patients.
Social Media Awareness
Dr. Cortney Gensemer is well-known for her educational Instagram account @cortdoesscience, where she provides accessible and informative content about EDS to her more than 15,000 followers.
Providing access to credible information grounded in peer-reviewed research empowers patients to become informed advocates for their own healthcare, combatting medical misinformation and equipping patients to engage in meaningful conversations with their healthcare providers and actively participate in their care.
