Hyderabad: India has more than nine crore people suffering from what are called rare diseases, which amounts to about one-quarter of all patients suffering these diseases worldwide. Hereditary sensory and autonomic neuropathy type II (HSAN2) and thalassemia are two such diseases.
Families affected by rare diseases are isolated in their communities with little or no access to disease specific information and treatment or care. They must be properly educated about their disease to cope with it, say doctors.
Dr Ramaiah Muthyala, president and CEO of the Indian Organisation for Rare Disease (IORD), says there is no proper definition of a rare disease.
“In 1980, the USA defined a rare disease as one affecting less than 20,000 people in the whole population. However, that was a definition in the 1980s. At present it is not applicable as many changes have occurred,” he said.
Many western countries have defined a rare disease according to the prevalence of it in their individual countries — so it could be that if 1 in 50,000 or 1 in 20,000 of the population is affected, then it is classified as a rare disease.
There is no definition of a rare disease in India, nor is it officially known how many people are suffering from such diseases.
‘Orphan’ drugs are used to treat rare diseases, that is, drugs that are underdeveloped, since they are required by fewer people. Dr Muthyala says pharmaceutical companies are not interested in manufacturing drugs for these diseases as 10 years may be spent on researching drugs that will not yield much profit.
The US government came up with the Orphan Drug Act to encourage pharmaceutical companies that manufacture orphan drugs by giving them exclusive rights. No patent is required, the government foots the bill for 50 per cent of the research and development cost, and the company is exempted from paying user fee.
Dr Muthyala said, “There are around 7,000 rare diseases in the world and only 400 orphan drugs are available, which is less than five per cent of the drugs we required to address the problem of rare disease. There are ample opportunities in the field of manufacture of orphan drugs. There are very few diagnostic centres for rare diseases.”
Rare diseases usually have a genetic cause and could therefore be hereditary. As they tend to recur in particular families, identifying such families and then getting them to see a genetic counsellor, and educating them about the disease is a way of addressing the disease.
Dr Krishnaji Rao said, “The burden of rare disease is several times more than the burden of diseases such as TB. Other diseases can be treated with medicines for a period of time and can be cured. However, the scenario is totally different in rare diseases, where starting from the patients all the family members suffer.”
The knowledge of rare diseases and orphan drugs needs to be improved even among the medical fraternity so that they can identify patients early and refer them to the right doctor and point of care. Much time is lost in diagnosis and that delay can be avoided.
IORD has requested Vice-President M. Venkaiah Naidu and health minister J.P. Nadda to include questions pertaining to rare diseases in the 2021 National Family and Health Survey so that an estimate of the number of people affected can be arrived at.
