Jana Monaco is the mother of four children, two of whom have a rare inborn error of metabolism called Isovaleric Acidemia. Stephen, now 28, suffered severe brain damage at age 3 ½ leaving him with severe disabilities and complex medical issues due to lack of comprehensive newborn screening at birth. Her daughter Caroline, now 23, was screened early sparing her of Stephen’s fate.

Monaco’s diagnostic odyssey led her to become a Virginia state and national advocate for newborn screening, and her efforts have helped to pass legislation to expand newborn screening laws in all 50 states. She is a former member of the Secretary’s Advisory Committee for Heritable Disorders in Newborns and Children (SACHDNC) as well as a Family Faculty Member of the Leadership, Education and Neurodevelopmental Disabilities (LEND) Program at Children’s National Hospital in DC.  Monaco is also a long time member of the Virginia Newborn Screening Bloodspot Council. As Rare Action Network State Ambassador for the National Organization for Rare Disorders (NORD), Jana was instrumental in passing legislation declaring every February 28th in Virginia as Rare Disease Day.

Monaco has also advocated and assisted in passing legislation for HB840 in the 2020 General Assembly requiring insurance coverage for medical formula and foods for inborn errors of metabolism on the state newborn screening panel. Monaco worked with Del. Kathleen Murphy and NORD to create language and pass legislation HB1995 to develop the Rare Disease Advisory Council in Virginia (RDAC). She is the Advocacy Liaison for the Organic Acidemia Association and a member of the Children’s National Health System Patient/Family Advisory Council in DC.

Monaco has presented on newborn screening and rare diseases on Capitol Hill, with NORD, Genetic Alliance, the FDA and March of Dimes in addition to the renaming ceremony for the Eunice Kennedy Shriver NICHD at the National Institutes of Health. She is also a 2024 recipient of the NORD Rare Impact Award.

Monaco briefed National Press Foundation fellows in November 2025: Rare Disease Families Need Screening, Genetic Counseling, Advocates Say. Check out the Rare Disease Reporting Guide.