At birth, Jessica’s physician noticed she had low levels of calcium. Genetic testing later confirmed that she had autosomal dominant hypocalcemia type 1 (ADH1) with a calcium receptor (CaSR) gene mutation. Jessica had complications due to ADH1 quite early in life. Before Jessica started kindergarten, she had painfully passed her first kidney stone. Fiercely protective and attentive, Jessica’s mother quit her job to take care of Jessica full-time. She researched and provided Jessica with the latest cutting-edge treatments. 

Despite the challenges of living with ADH1, Jessica has done well. She is a hopeful, new mother who is ready to do whatever it takes to take care of her child. She has a graduate degree and works to provide mental health care for her clients.

Mary Scott Roberts, M.D., senior director of clinical development at BridgeBio Cardiorenal, joins to provide an overview of ADH1. She describes how low or elevated levels of calcium can cause muscle cramps, brain fog, fatigue, seizures, and other symptoms in individuals living with ADH1.