My son was really excited to be able to swallow the medication
Five-year-old Ethan has Hereditary Tyrosinemia Type 1 (HT-1). Like any family that has a child with this ultra rare condition, the family have found Ethan’s diet and medication regime very demanding.
Ethan started on Orfadin* (nitisinone) capsules as a baby, which his parents had to mix with water to create a suspension to syringe into his mouth. The medication, nitisinone, sometimes known as NTBC, needed to be kept in a refrigerator, which the busy family found restricting, as it meant carrying ice packs around when travelling even short distances.
Find out more about the family’s experience by watching the video or read more below.