Families of India’s first cases of two rare disease patients struggle for inclusion under national policy

Treatment is expensive. 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.

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. 

The medicines that will keep her disease at bay are very costly — around ₹2.5 crore per year — and the cost will increase as the patient gets older. Having spent ₹75 lakh so far through personal funds and crowdfunding, her parents — Michael Andrews and Teresa — are worried as her medicines will run out mid-November.

Infantile Hypophosphatasia is a rare genetic disease in which the patient’s bones and teeth demineralise, making her fragile and prone to fractures. While there is no known cure, there’s a chance that a pharma company could begin trials for a drug to cure the disease by the end of 2024.

Michael Andrews told The Hindu, “We are really looking for inclusion of this disease under the NPRD. It is crucial to continue her treatment to avoid the onset of respiratory issues and the development of rickets. However, the cost of this therapy is beyond our means. We are looking for support to help fund Sera’s lifelong treatment.”  

“The drug procured in July will last till mid-November. We urgently need to secure the next set of enzymes, and need a minimum of ₹96 lakh for a dose that will last 5 months. As Sera is gaining weight, she needs a higher dosage,” he said.