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

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 patient put on therapy in the country

October 18, 2023 02:05 pm | Updated October 22, 2023 01:35 pm IST - Bengaluru

Indira Gandhi Institute of Child Health in Benagluru is among the facilities that offer treatment for rare diseases.

Indira Gandhi Institute of Child Health in Benagluru is among the facilities that offer treatment for rare diseases. | Photo Credit: Bhagya Prakash K

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.

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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.

Prone to fractures

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.”  

Also Read | Delhi High Court steps in for patients of rare diseases, sets up panel to implement Centre’s policy

“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.

As part of their crowdfunding efforts, the toddler’s parents have created a website and are also running an online Change.org/SpeakUpForSera campaign.

Global humanitarian programme

Taran was diagnosed with Neimann Pick Disease (NPD) when he was three years old. He has been undergoing free ERT through a pharma company’s global humanitarian programme since November 2022, at IGICH and the Centre for Human Genetics (CHG). His mother Navinthara Kamath, who is leading the NPD India Charitable Organisation, said Taran is doing well with the treatment.

“We are hoping Taran will lead a normal life with the therapy, but it all depends on continuity of the treatment lifelong. We do not know till when the pharma company Sanofi will provide us the drugs for free. We urge the government to include NPD under the policy. There are 16 NPD patients in India, and Taran was the first to be put on treatment,” she said.

NPD is a lysosomal storage disease (LSD) caused by acid sphingomyelinase deficiency (ASMD). The disease refers to a group of inherited metabolic disorders in which abnormal amounts of lipids (fatty materials such as waxes, oils, and cholesterol) build up in the brain, spleen, liver, lungs, and bone marrow. 

Emphasising the need for greater awareness about genetic testing, both the families are grateful to Meenakshi Bhat, Associate Director at the Centre of Human Genetics and Sanjeeva G.N., professor of Paediatrics at IGICH, for proper diagnosis and treatment of their children.

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