Richie and Kelsey Williams of Massillon, Ohio looked forward to their date night. It was their first outing since becoming parents. They planned to go to a friend’s wedding and Richie’s parents agreed to watch their five-month-old daughter, Quinn. “My mom called while we were out and said Quinn was sick and throwing up every […]
Finley and her mother Christine find belonging in Rare Disease Day
Halfway through her pregnancy, Christine Cunningham received a difficult diagnosis. Her 20-week ultrasound revealed a cephalocele in her infant daughter’s skull, a rare defect where the neural tube does not close properly during gestation, leaving part of the brain exposed. Follow-up scans showed another rare disorder — agenesis of corpus callosum — an abnormality where […]
Living with a rare disease, Kate Johnson finds her passion for patient care
As a child, Kate Johnson experienced an array of symptoms, from difficulty breathing to dexterity and mobility issues, and her providers struggled to find a diagnosis. “It was frustrating,” she said. “Having a rare disease so young is very difficult in many ways. People may not believe someone so young, when it comes to something […]
