Living with an Uncertain Rare Diagnosis

When Hillary Savoie was pregnant, an ultrasound concerned her doctors that her child might be born with a genetic disease. When her daughter Esmé was born, despite the health problems she faced, Savoie resisted having genetic testing performed. When her daughter was eventually tested, it did not provide clarity. Eventually four suspect genes were identified through various tests. Savoie, founder of The Cute Syndrome Foundation, has chronicled her experiences with Esmé in two short memoirs Around and into the Unknown and Whoosh. She discussed experiences as the mother of a child with a genetic condition, the sometimes-harrowing health emergencies she faces, and how she has learned to live with uncertainty.