Families of two children diagnosed with the rarest of rare diseases — Infantile Hypophosphatasia and Niemann Pick — are struggling to get these genetic disorders included under the Centre’s National Policy for Rare Diseases (NPRD). Continuity of the expensive treatment can be ensured only if there is assurance of funding, either through the government or medical insurance, as is the case in other countries, the families feel.
Both these children from Karnataka stand out as unique cases. While 16-month-old Sera Nile Fay is India’s only known case of Infantile Hypophosphatasia, 14-year-old Taran is the first Neimann Pick Disease (NPD) patient put on therapy in India.
Sera Nile Fay was diagnosed with Infantile Hypophosphatasia — a rare condition — when she was five months old. She has been undergoing enzyme replacement therapy (ERT) at the State-run Indira Gandhi Institute of Child Health (IGICH) in Bengaluru since March.
