Cure is unlikely, Medicines cost Rs. 50L+ a year
Rare Diseases affect thousands of families in India, and due to the snail’s pace of innovation and research in the country, families often have to watch their loved ones suffer, with many eventually succumbing to their disease
Her daughter Kusuma, was only three-years-old when Sudha Rani noticed a boil on her head. Within a few weeks, the little girl’s entire body had erupted in them. Sudha took Kusuma to various doctors across the city, but everyone was stumped, especially when her body began to produce bone in the place of muscle. Even a slight soft tissue injury would provoke the body to produce more bone.
Eventually, doctors at MS Ramaiah Hospital diagnosed what was wrong with the child: Kusuma was suffering from Fibrodysplasia Ossificans Progressiva (FOP), commonly known as the ‘Stoneman’s Disease’ because of the body’s propensity to turns itself into a mass of bone. There is no treatment for FOP, a disease of which only 700 cases have ever been confirmed globally. FOP is a Rare Disease.
Kusuma is going to celebrate her fifth birthday in August, but her parents have no reason to cheer because they know that even though there are clinical trials in the US and Europe, none may have results soon enough to save their baby girl.
The costs of taking care of Kusuma are prohibitive: “A few well-wishers have gifted a wheelchair so she can go to school. That brings a smile to her face and that is what keeps us going,” Sudha says.
Rare Diseases (diseases that affect a small percentage of the global population) affect thousands of families in India, and due to the snail’s pace of innovation and research in the country — not to mention the difficulty in diagnosing the illness — families often have to watch their loved ones suffer, with many eventually succumbing to their disease. Couple this with the fact that drugs for Rare Diseases are not produced in India and have to be imported, means the cost of procuring these drugs puts them out of the reach of many families.
When 14-year-old Nihal Bitla succumbed to Progeria-related complications last month, the spotlight was brought back on Rare Diseases. And it shed light on a desperate situation.
There are close to 7,000 Rare Diseases, but barely any treatment protocols. About 250 new Rare Diseases are identified each year. Among these, Lysosomal Storage Disease (LSD) is the most common. Close to 50 disorders fall under this category, seven of which have treatment regimes, none are available in India.
It is estimated that one in 4,000 people in this country suffer from a Rare Disease, but there isn’t even a registry to maintain the records of these patients.