James, living with CAH

James is living with congenital adrenal hyperplasia (CAH), a genetic disorder that affects the adrenal glands’ endogenous cortisol and aldosterone production.

James’ diagnosis of CAH was far from typical. While most individuals with CAH are diagnosed through newborn screening, James and his parents did not receive his diagnosis until he was 10 days old. James’ parents found their him lying lethargic in bed, suffering from what was determined to be an adrenal crisis. Terrified, they called their pediatrician who immediately referred them to an out-of-town university hospital. Testing immediately indicated James had CAH. He learned later that his case was one of the key cases of CAH that encouraged lawmakers in his state to add CAH to the newborn screening panel performed on all babies to ensure parents would know about their child’s condition before needing to visit a hospital.

James’ childhood was not limited by his CAH. In fact, he played sports and was “rough and rowdy” like a typical boy. He was, however, the only kid at the playground who carried McDonald’s salt packets in his pockets at all times, “just in case.” James describes his teenage years as “not easy”, because of medication adjustments and physician appointments, but overall he felt his condition was well-managed and he persevered. James attended college and now owns his own business. James never met anyone else living with CAH until he was in his 30s and flew to Australia to meet with a mother and her 4-year-old son after they connected through a Facebook group. James recalls her relief in seeing him; a successful, healthy and happy man who lives with CAH.

To this day, James continues to live well, but not without the inconveniences of twice daily steroids, and the ever-present salt packets that he has carried in his pockets since his days on the playground, just in case.