University Notre Dame | November 3, 2017
When your child is diagnosed with a rare, genetic disease, it feels like you’re rolling down a mountain, just waiting to hit rock bottom, says Doug Berns. When his daughter, Samantha, was diagnosed with Niemann-Pick Type C, an incurable, neurodegenerative disorder, he and his wife watched as Samantha’s energy depleted, her balance became shaky, and her laughter quieted.
While looking for support groups, Berns stumbled upon the Ara Parseghian Medical Research Foundation website. They were hosting a rare disease day at Notre Dame the following week. The Berns family got in their car and drove to meet families, researchers and clinicians who also knew the telling signs of the devastating disease.
There they met Dr. Elizabeth Berry-Kravis ’79, a pediatric neurologist at Rush University Medical Center. Though her research had been focused on Fragile X syndrome and other developmental disorders, a family had approached her about treating Niemann-Pick. Then another. With the demand, she began a multi-patient, compassionate use protocol on a new drug for treating Niemann-Pick Type C. This process, also referred to as expanded access, occurs when a patient is not formally enrolled in a clinical trial but still chooses to receive the treatment. The Berns family asked if Samantha, too, could be enrolled. Berry-Kravis said yes.
“That day,” Berns says, “changed our entire lives.” For the first time since Samantha’s diagnosis they had hope.