The Greenwood Genetic Center has a longstanding interest and expertise in Rett syndrome, a rare, genetic neurodevelopmental disorder that affects mainly females. GGC’s Rett syndrome program includes clinical care, diagnostic testing, research projects, and clinical trials.
GGC works closely with IRSF to provide support and advocacy for all families impacted by Rett Syndrome. Each year, GGC and IRSF work with the SC governor’s office to proclaim October as Rett Syndrome Awareness Month in SC.
Rett Syndrome Pediatric Multidisciplinary Clinic – held in conjunction with the Shriners Hospital for Children and Prisma Health-Upstate in Greenville, SC. Services include genetics, genetic counseling, neurology, developmental pediatrics, physical therapy, occupational therapy, social work, and dietary management. Age range: birth-21 years of age.
Rett Syndrome Genetic Clinic – appointments available at the Greenwood and Greenville offices of the Greenwood Genetic Center with a clinical geneticist, developmental-behavioral pediatrician, and certified genetic counselor. Patients can be seen clinically and/or for research.
Diagnostic Testing – GGC was one of the first labs to offer testing for MECP2, the gene associated with Rett syndrome. The laboratory also offers testing for other genes for related conditions including FOXG1, CDKL5, as well as a Rett/Angelman NGS panel.
When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her.
Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...