Patient-scientists use personal experiences to advance research

In a world where illness can often be interpreted as weakness, the Gensemer Summer Intern Program addresses a perspective that contradicts that assumption. Rather than disease being seen as a disadvantage, it instead is viewed as a superpower – a philosophy that serves to introduce the patient-scientist model in medicine at MUSC. Essentially, the program’s interns share a commonality and want to learn as much as possible about its underlying biology and contribute to a body of knowledge. The Norris Lab, under the direction of Russell "Chip" Norris, Ph.D., hosts this program at MUSC and leaders mentor the interns toward these goals.

Driven by a curiosity to gain a deeper understanding of the unanswered and unknown aspects of a disease called hypermobile Ehlers-Danlos syndrome (hEDS), five passionate interns with a deep love for science are working to serve as the missing piece of the puzzle – one necessary to comprehend this condition more fully. 

"To have a space where both values exist simultaneously is incredibly fulfilling," said intern Shaina Butler who defines herself as being on both sides of the stethoscope. 

What makes these interns special is the possible advancements in science that they can facilitate by relying on their own personal experiences. Postdoc Cortney Gensemer, Ph.D., who launched the intern program with Norris, believes that this model offers a unique perspective that our health care system often ignores. With four of the five interns having a diagnosis of hEDS, and one intern with a near-and-dear loved one affected by the disease, it enables them to approach the condition from an entirely different perspective, which may help to bridge various gaps and barriers that the medical community commonly faces when trying to understand, research and treat the condition.

Norris explained what drove their initial concept. “A main reason for starting the internship was to build a community of physicians, scientists and health care professionals who understand this disease – who better than the patients themselves? By doing so, we can change the perception that this disease is benign. While empowering patients with a disability is important, and certainly an initiative, it is the educational foundation that we are providing that will make an even larger impact for generations of these patients in the future,” Norris said.

 

hEDS is a genetic connective tissue disorder often mislabeled as being benign. It is frequently characterized by stretchy skin; however, this misconception falls far from the truth of the real impact hEDS can have on the body. Patients with hEDS experience a multitude of symptoms resulting from the increased laxity, or looseness, of their connective tissue. Connective tissue, including muscles, ligaments, tendons, bones and blood vessels can exhibit extra laxity and lead to a wide spectrum of symptoms. While joint instability, chronic subluxations, dislocations and generalized body pain tend to be common symptoms of hEDS, its impact on the body extends above and beyond the musculoskeletal system. hEDS can also have a huge impact on the neurological, gastrointestinal, cardiovascular, reproductive and nervous systems, not to mention the frequent comorbidities commonly linked to hEDS: mast cell activation syndrome (MCAS), post orthostatic tachycardia syndrome (POTS), ADHD, tethered cord syndrome, craniocervical instability and anxiety. 

Historically, the Ehlers-Danlos Syndromes have been considered a rare disease, and while this may be the case when taking into account 13 of the 14 subtypes that make up the disease, Gensemer said it certainly is not the case when referring to the hypermobile subtype, hEDS. According to the Ehlers-Danlos Society, it is estimated that hEDS affects up to 1 in 5,000 individuals. Gensemer, however, explained that the true prevalence might actually be closer to 1 in 500, when everything is taken into consideration.

Intern Maggie Osterhaus, a recent Brigham Young University graduate, underscored Gensemer’s thoughts. “The fact that there’s this condition that plagues so many people that hasn’t been studied well at all, and to be able to participate in the studying and to drive that forward is really empowering, and I think shows us all that determination can go a long way,” she said.

Patient-scientists living with Ehlers-Danlos Syndrome have the advantage of being able to provide a much more unique insight into their conditions, which can be beneficial not only for them but for the greater good of the public as well. Patients are like walking databases; their personal experiences and the ways in which their medical conditions affect them can certainly offer valuable insights and tangible information that doctors frequently lack. Oftentimes, communication is skewed between medical professionals and patients. Barriers can arise when a patient doesn’t feel heard or understood, a phenomenon that is commonly reported among hEDS patients. One of the biggest struggles for EDS patients is the ability to describe the pain, discomfort or sensations they feel in a way that others can understand. Because of the extent to which EDS manifests itself on a spectrum, it makes it increasingly harder for providers to understand the different ways patients are affected. They tend to have only a general understanding of the disease and a bit of a closed mind in terms of how the condition affects the public. 

 

Three years ago, the Norris Lab launched its summer intern program. Gensemer, a patient-scientist herself, understands firsthand what it’s like to work with the often debilitating condition. Plans for the program began with her and Norris wanting to take a single student for the summer, which then led to a whooping 70-plus applicants interested in her program just three years later. 

The ultimate goal for the intern program, she explained, is to empower those who may not have felt they had a space in medicine to practice with their disabilities as well as guide and prime them for the next steps that their career paths may entail. 

“Some students come in with research experience and some don’t. Some might not have necessarily thought they could get the experience because of health limitations. So I think, not only is the program kind of empowering in terms of letting the interns know, ‘Hey, you can do this,’ but it gives them that confidence for the next steps of their careers, and it also provides them with the experience they need to get into graduate school or medical school, that type of thing,” said Gensemer. 

Interns are able to gain a much better understanding of hEDS from both a molecular and biological perspective while also getting the opportunity to understand how hEDS affects their peers in ways that are different than their own experiences.

The intern program offers the opportunity to work on independent projects with a mentor, whether it's with a graduate student or postdoc working in the lab. Interns are able to incorporate their individual interests into the work being done in the lab, especially with journal club opportunities. Lecture opportunities are also offered, presented by guest speakers with EDS expertise.

 

Intern Jillian Schnaudigel, a neuroscience major at Bucknell University, is working on mast cell degranulation with the goal of understanding more fully the relationship between mast cells and EDS. Though Schnaudigel herself is not affected by MCAS, her interest in studying the relationship is fueled by the fact that there is so much more to learn outside of that which is already familiar to her.

“We’re all experts in what we have, but we aren’t in what we don’t have,” Schnaudigel said.

Intern Emily Fleck received a diagnosis “of unknown origin” at a young age but did not receive an official diagnosis of hEDS until her late teens. Driven by her preexisting love for science and personal experience with chronic illness, Fleck is interested in potentially pursuing a future geared toward the clinical care side of EDS. 

“I’m interested in interdisciplinary care but also pediatrics,” she explained. “There’s this barrier to understanding what’s happening in kids because they can’t communicate.” In fourth grade, Fleck traveled from her hometown in Georgia to Cincinnati Children’s Hospital to seek a diagnosis. While doctors believed and acknowledged she was dealing with health issues, they also suggested that what she was dealing with was probably something “beyond what their science had caught up with.” 

This situation is not unusual. Many hEDS patients have experienced years of confusing and less than optimal care. 

With the Gensemer Summer Intern Program approaching its third year, it’s evident that the patient-scientist perspective continues to drive an increase in the participation of hEDS patients who want to advocate for themselves and join the medical world, however that may look. Former first-year intern Roman Fenner will begin the Medical Scientist Training Program at MUSC in August, where he will earn an M.D.-Ph.D., and hopes to steer his past efforts with the lab further. In addition, Victoria Daylor, a former intern, has joined the lab for the year after publishing a research paper called “Hope for Hypermobility” with Gensemer, Norris and Linda Bluestein, M.D., Medical College of Wisconsin.

Gessemer said she could never have predicted the extent to which the internship would have taken off and continued to grow. She is proud of the interns and their stellar efforts. 

“The interns are the cornerstone of our summer program. The patient-scientist model is incredibly valuable and positions these interns to achieve more than they ever thought possible. Their time is not spent exploring a random subject; more, this internship allows them to make a significant impact on a subject that personally affects them on a day-to-day basis.”