Arianna Ciccu and her husband, Marco, knew if they had children, they might be born with congenital adrenal hyperplasia (CAH). It’s a genetic condition Marco was born with and has navigated his whole life.
CAH is a group of conditions that affects a person’s adrenal glands. Congenital means the condition is present at birth, and hyperplasia means the glands are overgrown. The adrenal glands make and release the hormone cortisol, which plays a key role in how the body uses sugar for energy and how it deals with stress. A person with CAH can’t make enough cortisol because they are missing an enzyme. There are two different types of CAH, classical and nonclassical. Classical CAH is more severe and can be life-threatening.
When Arianna and her husband welcomed their first child, Rebecca, the first thing they asked the doctor was if Rebecca had CAH. Today, all babies are screened for CAH at birth using a simple blood test. Without treatment, newborns with CAH can develop serious symptoms, including weight loss, vomiting, dehydration, diarrhea, shock, heart rhythm problems and death.
The test was positive.