Families raising children with Prader-Willi syndrome often spend years managing one of the world's rarest genetic disorders with few treatment options and limited local support. Now, a newly approved medication and expanding community resources are offering new hope.
Prader-Willi syndrome affects about 1 in 15,000 births and disrupts the brain's ability to regulate hunger, hormones and other essential functions. A new FDA-approved medication is giving families another treatment option, while the Prader-Willi Syndrome Association is expanding support for families.
The disorder is caused by genetic changes involving chromosome 15 and affects the hypothalamus, the part of the brain that regulates hunger, sleep and hormones. One of its hallmark symptoms is hyperphagia, an overwhelming biological drive to eat that often requires families to carefully control access to food around the clock.
The newly approved oral medication, VYKAT XR, is designed to help reduce the excessive hunger associated with the disorder.
"We have been doing research for decades trying to find a medication that can really help curb the appetite," said pediatric endocrinologist Dr. Parisa Salehi of Seattle Children's Hospital.
Salehi said treating Prader-Willi syndrome requires a multidisciplinary approach.
"It really takes a village to help a family manage the medical issues and help that individual grow to be a healthy adult," she said.
For families in Southern Oregon, that support was the focus of a Prader-Willi Syndrome Association Roadshow held in Medford on July 18.
Anne Fricke, the organization's marketing and communications coordinator and the mother of a 14-year-old daughter with the disorder, said events like the roadshow help reduce the isolation many families experience.
"It's just so great to be in this space where you get to just feel kind of normal and typical and like you're not explaining, you're not worrying about something," Fricke said.
Salehi said advances in genetic testing now allow doctors to diagnose Prader-Willi syndrome with about 99% accuracy, helping families begin specialized care earlier.
Families in Southern Oregon and throughout the Pacific Northwest can find information, clinical resources and peer support through the Prader-Willi Syndrome Association.
Guests
- Dr. Parisa Salehi, pediatric endocrinologist, Seattle Children's Hospital
- Anne Fricke, marketing and communications coordinator, Prader-Willi Syndrome Association
