The Medical University of South Carolina (MUSC) is the newest center of excellence in studying the most prevalent of the world’s rare diseases.
The national Charcot-Marie-Tooth (CMT) Association recently named the office of MUSC ’s Dr. Sarah Breevoort’s as the only Palmetto State institution designated as a center of excellence for the disease.
“We received that designation in late July, and it’s been really wonderful,” Breevoort told the Charleston City Paper. “People were having to go all the way up to Duke for the nearest center where people had any amount of expertise in this.”
CMT is a spectrum of genetic conditions that affects the nerves connecting the brain and spinal cord. It is a progressive, hereditary disease that can show up early, but worsen over time. Breevoort explains it often starts with a child tripping at school or unable to keep up with their peers when running.
It can later progress to affect the legs, hands and arms. It can cause muscle weakness, numbness, severe pain and more. Cleary Simpson of Mount Pleasant, vice-chair of the CMT Research Foundation, called the disease complex and difficult to diagnose.
“It is the most prevalent rare disease in the world,” Simpson said. “More than 3 million people in the world are living with this, and it is a very difficult, life-changing disease for many, many of them. We all want to do everything we can to work together to change the trajectory and legacy of this disease.”
Breevoort added about one in every 2,500 people are diagnosed with CMT, and there’s probably many more that have been misdiagnosed if at all.
Breevoort spearheads patient care and advocacy for those struggling with CMT, but she has long been an expert in these sorts of diseases. Being named a Center of Excellence, she said, is really more about visibility.
“It just allows individuals within the state to know that we are here,” she said. “And it will give us access to new, novel therapies when they become available.”
And new therapies are right around the corner, Breevoort said.
“We’re kind of at a threshold point now where these gene therapy programs could become available within the next few years,” she said. “Having these patients ready and established is going to make access to those novel treatments possible, and I think that’s going to be foundational and just revolutionary. It’s really changing what we thought was possible.”
Breevoort said she met Simpson and her husband George about a year ago and they were fundamental with getting her connected to the CMT Association as well as others on the clinical side of the disease. When Simpson realized Breevoort’s office already met all of the criteria for becoming a Center of Excellence, the ball started rolling quickly.
“My husband started a Facebook group for Charleston CMT patients, and immediately we saw people saying, ‘Thank goodness there’s someone here,’ ” Simpson said. “Being able to speak and learn from other people who are living with the same kind of challenges as you are is really important.”
Bright horizons
In addition to novel treatments and therapies offering hope for those struggling with CMT, Breevoort said what could make the biggest impact is more awareness.
“There’s been a real lack of advocacy and health care literacy in South Carolina,” she said. “Patients just don’t want to have to explain what they have to other people who may not appreciate or understand it.”
As the disease progresses, Breevoort explained, patients can lose the ability to use their hands in meaningful ways, impacting their ability to work. She said many of her patients are still trying to work, but they often face stigma for their disability.
“They’re really very resilient, and I appreciate getting to work with these patients who are able to adapt and maintain a normal quality of life, a job and family despite their disabilities.”
That’s where people like Simpson really come in. When her daughter was diagnosed with CMT in 2011, she and her husband went on a journey to learn everything they could about the disease. And the more they learned, the more they realized there wasn’t a lot of money being given to CMT research or advocacy. That’s why they helped start the CMT Research Foundation in 2018.
“It started as a commitment to finding a treatment or a cure for our daughter within her lifetime, but the more we learned and the more researchers and scientists we’ve met, it became a real effort to change the world for these 3 million people,” Simpson said. “The science is available. We’re going to be able to do this.”
Since its inception, the CMT Research Foundation has raised $25 million in funding for 26 different projects, including two ongoing clinical trials developing novel treatments for CMT patients.
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