Patient Story Submission
For Advocacy
Early in my career, I saw a baby for her one-month well-child visit. As I did for all infants at their
one and two-month visits I reviewed her newborn screening records and was shocked. The
infant had tested positive for an incredibly rare disorder of fat metabolism, a disease with no
signs or symptoms in the newborn period but that without recognition and treatment could
have proved fatal had she contracted even a mild viral illness. Because of her newborn screen
we were able to identify the disease -- present in only 1 in 100,000 newborns -- educate her
family, provide dietary guidance and emergency planning for future illnesses, and ultimately
saved her life.