A shared goal to raise awareness and develop better treatments for neonatal-onset epilepsy has brought Baylor College of Medicine researchers together with three U.S. families: Jim and Tina Thompson of Iowa, Carla and Bryan Forbes from Massachusetts, and Jim Johnson and Scotty Sims in Colorado. Each couple has a child who suffered his or her first seizure within hours of birth. Those seizures continued through long stays in local neonatal intensive care units where standard treatments were unsuccessful.
Extensive diagnostic workups did not find answers, and each family waited years before the gene causing their child’s seizures could be identified. The parents subsequently helped found or lead different non-profit organizations supporting research on their children’s illnesses, including a new U.S.-wide study called Early Recognition of Genetic Epilepsy in Neonates (ERGENT).
Along with co-investigators Dr. John J. Millichap of Ann & Robert H. Lurie Children’s Hospital in Chicago and Dr. Tammy Tsuchida of Children’s National Medical Center in Washington, D.C., Dr. Edward C. Cooper and his colleagues have created a program that provides free-of-charge genetic testing to babies who have features suggestive of a genetically-caused epilepsy.