Tuberous Sclerosis Complex (TSC) Clinic

Tuberous sclerosis complex (TSC), a genetic disorder that affects 1 in 5,000 individuals, can affect many organs in the body, including the brain, heart, kidneys, lungs and skin. TSC is a lifelong condition in which complications can arise at any time. The most effective means of providing medical care is to use a team approach.

Established  in 2015, the TSC Clinic brings together various specialists in one location so that patients can be seen by several specialists in a single visit. The clinic treats and follows children into adulthood. Team members include a pediatric neurologist, nurse manager, pediatric cardiologist, pediatric nephrologist, pediatric pulmonologist and pediatric neuro-oncologist, as well as specialists in pediatric ophthalmology, psychology, dermatology and neurosurgery. The clinic has been approved as a TSC Center by the Tuberous Sclerosis Alliance, a national organization that fosters education, awareness and research on the condition.

Team

Our team includes:

Doris Trauner, M.D., Director; Pediatric neurologist

Cheryl Orphan, Nurse manager

Beth Printz, M.D., Pediatric cardiologist

Peter Yorgin, M.D.., Pediatric nephrologist

James Hagood, M.D., Pediatric pulmonologist

John Crawford, M.D., M.S., Pediatric neuro-oncologist

Research

Research is an important part of the clinic, with a focus on developing a better understanding of TSC and how to treat it. It has been one of the study sites for a multicenter trial of the drug everolimus for the treatment intractable epilepsy in TSC and continues to participate in the long-term follow-up phase of the study. The clinic is also exploring basic science opportunities related to the m-TOR cellular pathway and collaborates with other TSC centers around the country.