Ehlers-Danlos Syndrome: A disease that’s not so rare and a research lab who’s working on changing the patient experience.

In 2022, I was diagnosed with slipping rib syndrome and underwent a surgery to repair my rib at the Medical University of South Carolina (MUSC). The summer of 2023, I was diagnosed with Ehlers-Danlos Syndrome (EDS), commonly associated with slipping rib syndrome. Right now, my provider I’m on the line of Hypermobility Spectrum Disorder and hypermobile EDS, pending additional co morbid diagnosis. It’s something I’ve always had but has been exacerbated by a spinal fusion I was forced to have in 2020. Around that time, I applied for a special opportunity that takes place in a lab that is dedicated to studying cardiovascular diseases and Ehlers-Danlos Syndrome. I was privileged enough to be selected to participate in the Visiting Scholars program at the Norris Lab. The Norris Lab is a part of MUSC in the heart of Charleston – and I heard of it because of being a patient there myself. For three days, I was able to have an immersive experience in all things research and clinical practice. I was able to stay at a hotel nearby and spend a 9-5 with quite a few both intelligent and kind humans. The process of me stepping into the lab was seamless and I felt really welcomed there. They are proud of their work – as they should be. A focal point of their research is to determine a genetic marker for hypermobile EDS – the only type of EDS that does NOT have an associated gene. 

Pictured, Victoria Daylor (Clinical Coordinator), Dr. Russell (Chip) Norris, PhD (Principle Investigator), Myself, Kathryn Byerly, Erika Bistran, Taylor Petrucci, Cortney Gensemer, PhD (Postdoctoral Scholar)

As of right now, hypermobile EDS (hEDS) is only diagnosed clinically through symptom collection, personal/ family history and a physical examination which includes the Beighton scoring system. In summary, a practitioner who is familiar with the condition will typically provide a genetic test for the other types, and clinically evaluate each patient to determine where they might be on the EDS spectrum (if at all). Finding a practitioner who is familiar with EDS and is willing to diagnose can be incredibly difficult. The Norris Lab has seen this gap in healthcare and decided to make their research and knowledge of EDS accessible to future scientists and healthcare workers in hopes of creating community and filling the knowledge gap. This disease is not as rare as it was once thought to be, but the awareness and even the “science” has yet to catch up with the increasing number of diagnoses occurring each year. Even then, there are many who are quietly suffering who have yet to be diagnosed. The medical system is quite siloed in that most physicians and other practitioners have their specialty. This is understandable in a way because of how complex the body is. However, because EDS can manifest itself in essentially all the systems of the body – it can be challenging to put the pieces together without practitioners who are knowledgeable. 

Apart from my own experience, I was able to hear the stories and experiences of the staff and scientists who work at the Norris Lab. Many have some sort of connection to the disease whether through a personal diagnosis or the diagnosis of a family member. The process of research is slow and incremental. It takes incredible patients and commitment to show up every day and do that kind of work. But these are the things that keep science from remaining stagnant and we as a society need these brilliant people to continue doing this work. My respect for these people is immeasurable. I honestly just felt so encouraged to see all the work and dedication being put towards moving the science forward. Through this research, patient care will improve. I was also able to see firsthand, the impacts of EDS on patients in clinic. I was able to shadow the neurosurgery team and we saw multiple EDS cases. It hit home for me.  I was able to see the impact of the doctor/patient connection during these clinic appointments. The relief I saw in the faces of each patient spoke volumes. They were being heard and they were BELIEVED. The clinical presentation of EDS symptoms can be puzzling. Patients are often dismissed and at times, scoffed at. That can cause a lot of trauma for someone who is already physically suffering. But the neurosurgery team at MUSC was clearly a safe place. That was also encouraging for me to witness as both a future healthcare worker and a patient. 

If you have been diagnosed with EDS and are a student pursuing a career in healthcare or research, I highly recommend looking into both Patient Scientist opportunities at MUSC/Norris Lab. It is a great opportunity to learn all that you can about the condition, share your experience with those on the front lines and advocate for patients during your future career. 

(Picture taken by Victoria Daylor, myself doing some DNA extraction)

Thanks for reading,

Crystal McLean, MS

Dietetic Intern

Owner, Thrive Performance and Nutrition