CHOP tops in region for treating rare, lifelong genetic disorder in kids

Buerger Center for Advanced Pediatric Care
The Buerger Center for Advanced Pediatric Care is one of 15 centers for excellence in the treatment of Rett Syndrome. Photo credit Courtesy of Children's Hospital of Philadelphia

PHILADELPHIA (KYW Newsradio) — Children's Hospital of Philadelphia has been highlighted as a premier location for the treatment of patients with a rare genetic disorder called Rett syndrome.

Rett syndrome occurs once in about 20,000 live births in the United States. Dr. Eric Marsh, director of the Buerger Center for Advanced Pediatric Care at CHOP, says nearly every patient is female.

"Typically girls ... develop normally for the first six to 18 months of life, then they have a period of regression," Marsh said. "They lose skills — primarily, whatever language they've developed, then hand use. If they had normal hand use, they lose the ability to use their hands. They develop a stereotypic repetitive hand movement behavior, which classically is hand clasping."

The International Rett Syndrome Foundation has named the Buerger Center one of just 15 centers of excellence in the United States. It is the only one in the Philadelphia region.​

There's no cure or medication for the language and hand-use loss. And once they are lost, they do not return. However, he says, there are therapies available for associated medical issues.

"They also will develop epilepsy, so we treaty their epilepsy," he said. "They'll have GI problems, so we work with gastroenterologists. They can develop scoliosis, so they need to see an orthopedist. And they can develop a host of other general medical concerns that are treated with a team of individuals."

CHOP earned the designation because of Marsh's expertise, and because the center provides services that meet the unique and specific needs of patients with the syndrome, is involved in clinical trials and contributes to increasing doctors' understanding of the disorder.

Featured Image Photo Credit: Courtesy of Children's Hospital of Philadelphia