The Greenwood Genetic Center (GGC) participated in an event at the SC State House in Columbia on Thursday to raise awareness for patients and families impacted by rare diseases. Rare Disease Day, held at the end of February each year, highlights the unique challenges faced by families with a rare disease including delays in obtaining a diagnosis, having access to specialists with expertise, and the lack of approved treatments and resources.
Rare diseases are defined as those that are diagnosed in fewer than 200,000 Americans. However, with over 7,000 known rare diseases, collectively these disorders impact 1 in 10 Americans.
During the event, SC Governor Nikki Haley’s proclamation officially marking February 28th as Rare Disease Day in SC was presented.
GGC’s Director of Research, Dr. Charles Schwartz shared the Center’s experience in working with families impacted by rare diseases and work towards treatments. “80% of rare diseases have a genetic basis,” he shared. “Understanding the causes of rare diseases and the unique issues that these families face is what we do every day.”
Amie Thompson, a dietitian with GGC’s Metabolic Treatment Program, discussed the life-changing impact of the state’s newborn screening program which tests all newborn for 52 conditions. “It is through the combined efforts of our state government, the Department of Health and Environmental Control, the Department of Disabilities and Special Needs and our Center that we have one of the most comprehensive and family-focused metabolic treatment programs in the country,” shared Thompson. “No matter where in the state that a positive screen comes from, we can get that patient into one of our clinics immediately and start the life-saving treatment.”
One of Thompson’s patients is three-year-old Madison Braddock of North Augusta who has glutaric academia, type 1 (GA1), a metabolic disorder with an incidence of 1 in 40,000 births. Madison’s mother Victoria also spoke at the event. “Our world crumbled as our pediatrician told me the diagnosis and apologized because he himself had never heard of this disease,” recalled Braddock. “The very next morning we went to Greenwood Genetic Center where we met with Madison's specialist, dietitian, and genetic counselor. It was overwhelming and heartbreaking, but GGC took us by the hand on that day and has yet to let go.”
The event was organized by physician and rare cancer survivor, Dr. Anne Marie Fields, of Mt. Pleasant and supported by the National Organization for Rare Disorders (NORD). Family Connection of SC, a statewide organization of parents helping parents of children with disabilities, developmental delays, and chronic illnesses also participated.