Launching the nation’s first Limb-Girdle Muscular Dystrophy Center of Excellence at CHoR
When Kathryn Bryant Knudson was a little girl, her parents brought her to what is now known as Children’s Hospital of Richmond at VCU concerned and looking for answers. What they found was Dr. Robert Leshner, a renowned pediatric neurologist who would become a defining figure in Kathryn’s life; someone who pursued every development in the field on her behalf and made her feel seen in the uncertainty.
For years, clinicians knew she had muscular dystrophy, but the genetic cause remained a mystery. That uncertainty was not unusual. Muscular dystrophy is a group of over 30 inherited diseases characterized by progressive weakness and degeneration of skeletal muscles, but it wasn’t until genetic testing advanced sufficiently that specialists could tell one subtype from another or give patients a name for what they were living with.
In 2006, scientific advances finally gave Kathryn her answer: Limb-Girdle Muscular Dystrophy (LGMD) 2I/R9, a disorder marked by progressive muscle weakness around the hips and shoulders. While Kathryn was given a name for her disorder, there was no approved cure for the disease, a fact that remains true for LGMD and all dystrophies to this day.
Fulfilling a dream to support others with LGMD
Two years later, almost on a whim, Kathryn entered a contest sponsored by Pantene inviting women to share a dream. She wrote about wanting to start a foundation for others navigating LGMD. She won.
What started as a small prize and a big idea has grown into The Speak Foundation. Nearly 20 years later, it is a leading voice in advocacy, education and support for the LGMD community. Her mission is centered around making sure patients and families have easier access to the care and information they need. “So often, the worry is worse than the disease,” she says. “Our goal is to streamline the process for patients to reduce that burden of fear and uncertainty.”
Accelerating therapy for limb-girdle dystrophies through expert care and clinical research at CHoR
That mission has now brought Kathryn back to where it all began. VCU Health and CHoR were a natural choice for the founding site of The Speak Foundation’s new LGMD Centers of Excellence initiative. Dr. Nicholas Johnson leads the Center for Inherited Muscle Research at VCU and founded GRASP-LGMD, an international multi-site research consortium dedicated to accelerating therapy development for limb-girdle dystrophies. CHoR is one of a small number of centers in the country where pediatric and adult LGMD patients can receive coordinated, multidisciplinary care from clinicians who have spent careers focusing on this specific disease – and where that care is directly connected to the research pipeline working to change it.
Through The Speak Foundation's LGMD Centers of Excellence initiative, VCU Health and CHoR will be part of a planned national network with participants selected for their expertise in multidisciplinary care, commitment to research and patient-centered approach.
The designation comes with funding to support an LGMD care coordinator, a dedicated point of contact to help patients and families navigate diagnosis, appointments and next steps.
"The Center of Excellence model allows us to meet our goal of delivering coordinated, multidisciplinary care while strengthening our readiness for clinical trials and access to emerging therapies," says Johnson.
For Kathryn, launching the initiative where it all began for her is a deeply personal homecoming. "VCU is my north star," Kathryn says. "It was where my journey began, long before science had answers."
Kathryn’s passion supports the nationally ranked neurosciences care at CHoR.
To support neuromuscular disease care and research at CHoR, contact Payton Hardinge at phardinge@chfrichmond.org