Stephen Monaco Nutrition and Genetics Fund

Every year, millions of newborn babies across the Nation are screened for rare inherited metabolic disorders shortly after birth with a simple heel stick and a few drops of blood. If not detected early, these conditions can cause sudden death or irreversible brain damage. Stephen Monaco suffered severe brain damage at age 3 1⁄2, because his disorder, isovaleric acidemia (IVA), was not included on the panel of screenable disorders at the time of his birth. It is now thanks to Stephen! He is a patient of Children’s National Health System in Washington DC, in the Division of Metabolism and Genetics of the Rare Disease Institute. Our charity was created three years ago to honor Stephen and his impact on newborn screening and to support this program that provides diagnostic testing, evaluation and management for patients with inborn errors of metabolism. In addition to testing, it provides treatment for patients identified by newborn screening. The program also offers a specialized, family-centered approach to care, featuring metabolic dietitians for those patients who must follow a special metabolic diet. We want to ensure that it is accessible to all patients, both children and adults and support research to improve treatments and find cures.