Hyderabad: How many cases of rare diseases does India have? No one knows. This is because the new policy document of rare diseases of the Union health ministry has removed the earlier prevalence rate of 6 per cent of the population.
The 2017 Rare Diseases Policy took the prevalence rate of countries in the West and tabulated that but they found that the numbers were very high. It finds no mention in the latest document.
This has hit the patients who are suffering from rare diseases like thalassemia, sickle cell anaemia, lysosomal storage disorders, Hirschsprung’s disease, Gaucher’s disease, cystic fibrosis, haemangiomas and certain forms of muscular dystrophy.
These patients were hopeful that that once there was a prevalence rate and data assimilation, they could get some relief in terms of medicines and new cases would be identified in time and treated.
Dr Ramaiah Muthyala, president of Indian Organisation for Rare Diseases (IORD), explained, “The problem in India is of basic awareness where a rare disease is not known. By the time it is identified the patient and family would have visited several hospitals. Efforts were on with the government to create a data list so that the nodal centres are identified where people can come for help. This would mean creating awareness, sensitinig doctors and ensuring that there is a proper channel of approach. The efforts were based at creating an infrastructure where they can be treated rightly and on time.”
The Indian Organisation for Rare Diseases carried out a survey in cities and found that 24 per cent of the people were not aware that there is a rare disease, 50 per cent of them who were aware were struggling for medicines and drugs as they are very costly or not available in India.
The ‘orphan’ drugs that are used for treating rare diseases are patented and are very costly.
The only help for patients are the online support groups which have come as a boon to understanding the disease, helping the patients deal with it and their caregivers. The offline support groups are government hospital based where it is often found that a caregiver or a parent is spearheading it.
Dr R. Babu, a general physician, pointed out that thalassemia patients require regular blood transfusions due to which infections are very common in them. “Treating them is costly and it takes a toll on the families. There are families that require constant financial assistance,” Dr Babu said.
The policy was to set up nodal centres at government hospitals in the state to facilitate these patients and assist them but they have not yet been identified or functional which is a major drawback....