Inside Pediatrics Spring 2016

Since 2003, Percy has led an NIH-funded natural history study of Rett patients. “We’ve enrolled some 1,200 patients here and at other centers across the country that have some relation to Rett syndrome. Some have Rett; others just have mutations and don’t have Rett syndrome. We know from other disorders that it is critical to determine the natural history so you can be certain the treatment you use is actually making a difference,” Percy said. For Percy, one of the most rewarding aspects of working with Rett syndrome is being able to provide support for patients’ families. “It’s giving families a sense they are not alone. We can put them in touch with other parents who have similar experiences. I truly believe that involving the families has been a major boon to understanding Rett syndrome. We are able to give families a focal point and an understanding that there are lots of folks working on this, and with all the research that is going on, we are moving toward effective treatments, if not a cure,” he said. More information is available at www.sukifoundation.org . Alan Percy, M.D., has worked with 6-year-old Sarah Katherine Bateh, known as “Suki,” since diagnosing her with Rett Syndrome at age 2. She and her family have created the Suki Foundation to raise funding, increase awareness and to provide early intervention services for the one in 10,000 little girls born with the genetic defect that causes this debilitating neurological disease.

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