She’s a bright and motivated young woman with an infectious smile. She’s seemingly the picture of perfect health. But, at 25 years old, she wears support braces on her wrists and knees. And sports pain patches, too. Her condition is so painful, in fact, that she can’t sleep. She takes pills for that, she said.
Calla Winchell has Ehlers-Danlos Syndrome (EDS). It’s a rare group of genetic disorders that affects the elasticity of her connective tissues – the “glue” that holds the body together. There are 14 distinct types of EDS and the hypermobile form is the most common, impacting an estimated 1 in 5,000 people, with the majority of symptomatic patients being women. In hypermobile EDS, the symptoms and severity can vary greatly from person to person, with some patients only moderately impacted while others, like Calla, face pain and inconveniences on a daily basis.
Harms connective tissue
The culprit of EDS is the body’s inability to process collagen protein correctly, which harms the connective tissue’s ability to provide support and structure to the body. It can cause hypermobile joints, stretchy skin and fragile tissues. In other words, parts of the body that should be stable, are not.
The ligaments and tendons supporting the joints are loose, causing the muscles to pick up the slack. All day long, the muscles must contract just to keep the body together.
It’s a painful and debilitating disease that can affect many of the body’s systems at once, causing problems with digestion, breathing, movement and balance, and even mental health. People with EDS face the difficulty of finding an optimal plan for their treatment and care, often inhibited by the severity and complexity of the disorder. In addition, poor awareness of EDS in the medical community means that it regularly goes undiagnosed or is misdiagnosed.
Not unlike many others with EDS, Calla must navigate through a daunting array of physicians, specialists and healthcare providers across multiple agencies, each with differing perspectives and points of view.
Philanthropic support
Not anymore.
Thanks to significant philanthropic support from The Sprout Foundation, a Denver-area foundation funded by Suzanne and Bob Fanch, and gifts from others including Wag and Annalee Schorr, the Ehlers-Danlos Syndrome Center of Excellence was launched in 2019. The goal of the center is to eventually develop a cure for EDS at the Gates Center for Regenerative Medicine, while better addressing the clinical needs of patients today through specialty care at Children’s Hospital Colorado. The clinical components of this new center address the critical need for patient-centered, coordinated EDS care where physicians come together to agree on the treatment plan, rather than leaving the patient and their family to determine the course of action.
Calla Winchell, left, with her grandfather, Dr. Wag Schorr, and her mother, Dr. Kate Schorr.
Simultaneously, the Gates Center for Regenerative Medicine scientists are conducting leading-edge research with the ultimate goal of finding a cure. Today, this research is aimed at discovering the genetic underpinnings of hypermobile EDS and leveraging this information to develop future therapies for patients like Calla.
The Fanches said, “Sprout Foundation has funded research and the outstanding staff at the Gates Center for Regenerative Medicine to accelerate the cure for this life-changing disorder and also for clinical care to patients through the EDS Center of Excellence.”
Joining in this effort are Calla’s own grandparents, Wag Schorr, an accomplished nephrologist and 1963 CU School of Medicine alumnus, and his wife, Annalee.
Translational research
An essential component of the EDS Center of Excellence is a translational research program, which leverages existing campus resources and partnerships, including the Gates Center for Regenerative Medicine and the Colorado Center for Personalized Medicine.
The research program at the Gates Center is led by Dennis Roop, PhD, director of the Gates Center, in partnership with Ganna Bilousova, PhD, and Igor Kogut, PhD. The program brings EDS patients’ genetic information from clinical visits to the Gates Center where researchers are working on future treatments for the condition. In this virtuous cycle, patients inform future therapies in the lab that, in turn, could ultimately change lives back in the clinic.
Calla is one of those patients. She is motivated by the possibility of improving EDS research.
In preclinical models, scientists are collecting stem cells from Calla and other patients that indicate a possible mutation. These studies, using multiple patients, allow for a more accurate portrait of the errors in DNA. Early findings at the Gates Center suggest that a possible mutation for the hypermobile form of EDS may have been identified. The hope is that this research will lead to a potential treatment in the coming years.
Scientists are growing skin cells in the lab using Calla’s stem cells, with the EDS gene mutations removed. If successful, the modified stem cells will hook onto sites of inflammation and grow new cells – restoring function to damaged tissues and organs. It sounds like science fiction, but it could be a reality at the CU Anschutz Medical Campus in the years to come.
Hope and healing
The research advances taking place at the Gates Center will ultimately mean incredible hope and healing for people like Calla, and others with rare genetic disorders, who are eager to regain their health and their independence.
“I’m thrilled,” she said. “I’m excited to receive coordinated care and treatments that will help me get back to my life. What if I could go to the grocery store and not have to use a wheelchair anymore?”
By bringing research together with clinical care, the EDS Center of Excellence is helping turn such possibilities into realities.
Calla’s care plan is coordinated by a team of experts at the EDS multidisciplinary clinic at Children’s Hospital Colorado, led by the Medical Director of the Special Care Clinic Ellen Roy Elias, MD, in close collaboration with Kourtney Santucci, MD.
The clinic places the patient at the center of care, and brings forward all of the right health professionals required to determine a comprehensive care plan. In this model, the patient is seen by a team of specialists in a single day, with the goal of having a treatment plan at the end of the visit.
Calla’s grandfather, Dr. Schorr, says no more will Calla and others like her have to create a “center of excellence” for themselves as they traverse a complex and fragmented healthcare system to ensure their needs are met.
The pioneering work taking place at the EDS Center of Excellence began with Dr. Schorr’s vision. In 2016, as a member of the Gates Center for Regenerative Medicine Advisory Board, Dr. Schorr approached director Dennis Roop and began laying the groundwork for research efforts in EDS, which he and Annalee funded later that year. Dr. Schorr’s vision and commitment made it possible to develop the EDS Center of Excellence as a place to realize scientific advances in EDS research.
“CU is poised for another breakthrough in medicine,” said Dr. Schorr. “I believe that EDS patients will soon have access to effective treatments, and possibly even a cure. If we are precise with our research and resources, we can resume our place at the forefront of the medical world. That’s our responsibility.”
Opportunity to collaborate
Another must, said Dr. Schorr, is to empower visionaries in their fields to pave the path toward new discoveries and major medical advances.
Leading this charge is CU School of Medicine Dean and Vice Chancellor for Health Affairs John Reilly, Jr., MD. Dean Reilly said, “One of the great advantages of having our pediatric hospital partner, Children’s Hospital Colorado, and a research entity like the Gates Center on campus is the opportunity to collaborate. By bringing some of the best minds together to lead the next generation in EDS research, we get remarkable innovation, and leading-edge treatments and care. What our philanthropic partners have built here is inspiring, and together we are determined to bring hope to patients and their families. It has been exciting to see two families with a long friendship come together with a shared goal to create a center that will have a positive effect on so many patients and families.”
With each new discovery at the EDS Center of Excellence, lives will improve through better care and better health. Each new discovery brings new opportunity for people with EDS to live lives they never knew they could have.
Guest Contributor: Courtney Keener, CU Anschutz Office of Advancement.
April 23, 2024