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 […]
Local family advocates for daughter and those with rare connective tissue disorder
Brittani Tomic is moved to tears every time she hears the lyrics of Hillsong UNITED’s song “Another in the Fire” because it reminds her of a very dark period in her family’s life, as well as the light that finally appeared on the long journey to a diagnosis for her daughter. In fall 2018, at […]
