When Cortney Gensemer visited her professor during office hours to discuss her Ph.D. dissertation, she had no idea she would be able to study her own disease.
Gensemer, a doctoral candidate at the Medical University of South Carolina, first started noticing her symptoms at age 14, when she was forced to sit out the first year of girls varsity lacrosse at her high school in Pennsylvania. She endured numerous joint dislocations and soft tissue tears in both hips before she was diagnosed with hypermobile Ehlers-Danlos syndrome, a rare genetic connective tissue disorder that affects joint and neck movement, at age 19.
Prior to her diagnosis and over a year into Division II college lacrosse at West Chester University, she thought her constant injuries meant she just wasn’t as tough as the other athletes on the field.
“None of the physical therapists or athletic trainers I was seeing were familiar with EDS,” Gensemer said. ”There was no one saying, ‘This is something bigger.’ ”
Now, at age 25, she’s in the last year of her doctoral program at MUSC and recovering from her eighth surgery since being diagnosed.
Aside from the gray and blue brace she wore after her most recent surgery to keep the joints in her neck in place, she appeared in good health while working with school lab partners at the end of February.
A tattoo of the word “resilience” on her left forearm serves as a reminder to push through moments of severe pain. She calls it her EDS tattoo.
“It pushes me to want to work hard because I’m literally living with what I’m researching,” Gensemer said. “I’m going to be in awful chronic pain whether I’m sitting on the couch or in the lab.”
Now, MUSC is on the brink of opening the country’s first Ehlers-Danlos syndrome institute for research, clinical care and education on the disease.
Symptoms of the hereditary disease range from frequent joint dislocations, joints that extend beyond the normal range, and loose ligaments in the neck and spine.
EDS affects roughly 1 in 3,000 people worldwide and so far has 14 different variations. The hypermobile variant is known to be the most common. However, researchers say the real number could include many more since the disease is often undiagnosed or misdiagnosed. Currently there is no cure for EDS.
Gensemer is one of the only reasons EDS is being studied at MUSC. Her studies are housed in the Norris Lab, where her professor, Dr. Russell Norris, leads her and a team of 13 researchers and volunteers, some of whom also have EDS.
She and the team have so far identified the first strong candidate gene for hypermobile EDS, which could lead to new ways to diagnose patients earlier and more definitively.
“I didn’t realize how powerful my own story could be,” Gensemer said. “An EDS Institute is something that patients like me have dreamed about our entire lives.”
Living with EDS
It can be years before a patient actually confirms they have EDS. And different variants of the disease show up with different symptoms.
Gensemer was diagnosed within the first five years of exhibiting symptoms, while the average EDS patient waits 10 to 14 years to be properly diagnosed.
“Hypermobile EDS is really difficult to diagnose because there isn’t a molecular or genetic diagnostic test for it,” Gensemer said. “Identifying this new gene is going to ensure patients aren’t passed around from doctor to doctor or living with vague symptoms for years without knowing what connects them.”
For most EDS patients, undergoing numerous surgical procedures to reduce chronic pain is a necessity and often the best option for long-lasting relief.
Gensemer’s most recent surgery addressed loose ligaments in her neck that couldn’t hold her spine in place. Some doctors say this movement between the neck and head resembles the movement of a bobblehead, causing severe neck pain, sensitivity to light and lingering headaches.
To help, doctors fused the vertebrae of her spine together with titanium plates and screws to properly support her head, relieve lingering pain and prevent further symptoms.
Gensemer said that before she could undergo surgery, doctors needed to perform an upright MRI to determine what parts of her neck and spine needed support.
This specific MRI helps to diagnose certain spinal and neck complications of EDS that don’t show up on an MRI scan in the traditional position.
However, the nearest upright machine is in Greenville, a nearly four-hour drive. A ride that length can be incredibly painful and in some cases near impossible for people with EDS.
That was the case for Sydney Severance, a 16-year-old from Daniel Island, who was diagnosed with EDS in 2020 after months of shuffling back and forth to doctor appointments.
Severance’s symptoms left her wheelchair bound, constantly vomiting and extremely sensitive to light. At MUSC, neurological and spinal specialist Dr. Sunil Patel suggested she may be suffering from craniocervical instability, a type of loose ligament condition in EDS that results in injury to the nervous system.
Finally, she had found a physician who could tell her what was causing her so much pain. But in order to officially diagnose Severance she would need to have an upright MRI scan done, and she wasn’t able to make the drive. Luckily, a family friend of the Severance’s flew them to Greenville privately for the MRI, where her diagnosis was confirmed.
“It was still excruciating and very difficult to be moved around and have a long day of travel, even though my situation was a lot better than some patients,” Severance said.
While Severance agrees that luck was on her side, many others like her who have to drive may turn a four-hour drive into a multiple day trip.
She recalled talking with an EDS patient who suffered from seizures due to the same loose ligament problem as Severance. The other patient had at least 18 seizures during the trip for their MRI scan.
To Severance, the path to diagnosis for patients with this disease is much longer than the drive to Greenville. In fact, some patients go so long without knowing their affliction that it causes severe psychological trauma and confusion regarding the pain they are experiencing.
So after undergoing her first successful surgery for EDS in 2020, Severance founded Operation Upright, a campaign to raise over $1 million to bring an upright MRI machine to Charleston.
Her campaign aims to lessen the average time for diagnosis and give other EDS patients like her a chance at early detection. So far it’s raised over $800,000 out of the $1.2 million goal, including a recent anonymous donation of $600,000.
“I was able to get a diagnosis much faster than most people,” Severance said. “I think having an upright MRI machine in Charleston would help a lot of other people reach diagnosis quickly.”
Gensemer’s research and Severance’s fundraising position them as two of the strongest forces advocating for EDS in the state, fighting for more information and better treatment options for patients across the country and especially within the Lowcountry.
Gensemer also developed an EDS patient registry, collecting DNA information from over 3,000 patients nationwide for further genetic research. So far, nearly 80 percent of patients in the registry inherited the disease from a family member.
According to Norris, the MUSC professor who leads the lab Gensemer works in, the gene they discovered could help doctors decide on the best treatments and physical therapies for patients, and possibly reduce the amount of surgeries a patient undergoes in a lifetime.
Now they are testing the theory with animals, transferring the identified gene in humans to mice in their lab in hopes of being able to expand their studies on the disease.
“The mice are hypermobile and have changes in connective tissue,” Gensemer said as she carefully held one of the lab mice by the tail. “Now we can use that mouse to expand our studies.”
While both Gensemer and Severance are currently recovering from surgeries due to complications with EDS, they both say the work they are doing motivates them to keep going.
“Fundraising for this upright MRI really keeps me positive because I’m able to turn what has made my life a lot more difficult into something a little more positive,” Severance said.
So far, complications from EDS have resulted in Severance relearning to walk at least twice since being diagnosed, and her most recent surgery left her in the hospital for 16 days.
“She’s incredibly positive,” said her mother, Ashley Severance. “Even as she was learning how to walk again, she considered herself lucky.”