The Mysteries of Undiagnosed Conditions with Laura Hatcher
Summary: Laura Hatcher is a graphic designer, a small business owner, an adjunct professor and the Director of Communications for Little Lobbyists. She is the mother of a sixteen year old daughter, Olivia, and a twelve year old son, Simon. During a routine ultrasound in the latter part of her pregnancy with Simon, she and her husband Brian learned that the baby had hydrocephaly. When Simon was born they also discovered that he had had a stroke in utero whose effects would cascade into multiple problems, including cerebral palsy and epilepsy. Simon has cognitive and physical disabilities but a phenomenal sense of humor. Laura says, "Simon has the best laugh you've ever heard." He is currently obsessed with Sesame Street and wants to be a chef when he grows up. In today's podcast, Laura, Jason and Elizabeth discuss the intricacies of genetic testing, the work of The NIH Undiagnosed Diseases Program and how they each grapple with the mysteries of their children's diagnosed and undiagnosed problems. When Simon's motor abilities began to decline, they discovered optic nerve atrophy and neurological hearing loss. That led to genetic testing and the discovery that Simon had a unique genetic mutation that was the cause of all of his issues and possibly even his stroke.