New Clinical Trials Offer Hope in Two Rare Genetic Diseases

In 1994, three of Cindy Parseghian’s four children were diagnosed with Niemann-Pick disease type C (NPC). NPC is a genetic disorder causing an inability in cells to remove cholesterol, resulting in lipid buildup and cell death. Like all three Parseghian children, most children diagnosed do not make it to adulthood.

In 2011, Dakota Fisher-Vance, a pre-med student, received her B.A. in biology and a diagnosis of familial adenomatous polyposis (FAP), which leads to exponential growth of polyps in the colon and eventually cancer. The main treatment is ultimately surgical removal of the colon and other parts of the GI tract.

What do Cindy and Dakota have in common? They’ve stayed positive and committed to building the strongest community they can around these devastating diseases. And new clinical trials in both NPC and FAP offer a ray of hope in bleak situations.