Rare diseases and parenting a terminally ill child

Listen 00:48:45

Guests: Jim Kelly, Maria Kefalas, Amy Waldman

Six rare diseases were added to Pennsylvania’s newborn screening last year. Hospitals in the state can now test babies for 35 disorders after they are born. Since some of these rare disorders can be terminal, the hope is that early treatment can save a child’s life but the therapies have their own risks. So what is it like to be a parent of a child with a rare disease? In this hour of Radio Times – diagnosing and treating rare illnesses in children and how families cope. Marty talks with Hall of Fame quarterback JIM KELLY whose son Hunter was diagnosed with a form of leukodystrophy and died when he was just 8 years old, MARIA KEFALAS, whose five year old daughter Calliope Joy has a form of leukodystrophy, and AMY WALDMAN, a pediatric neurologist and the medical director of Children’s Hospital of Pennsylvania’s new Leukodystrophy Center of Excellence.

AP Photo/Jeff Roberson

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