English

A 25-Year Scientific Quest Offers Hope for Patients With Rare Disorder

Seven-year-old Jianna Monchais was an enigma to doctors as an infant. Physicians struggled to explain the large birthmarks across her body and puzzled over why she started menstruating as a baby. Some years earlier, and hundreds of miles away, Kelly Cohen had noticed similar birthmarks on her son, Liam, who, by his fifth birthday, had broken his femur — the strongest bone in the body — multiple times. Both families have received answers and expert care over the years from clinician-scientists at the National Institutes of Health.