There are thousands of known rare diseases which are dubbed as progressive, chronically debilitating and life-threatening. One in 20 Indians suffer from rare diseases, the Indian Society for Clinical Research (ISCR) reports.
Generally, rare diseases are inherited and could affect the patient for most of his life. There are still no known cures for most of these diseases and the number of people being affected increases each year.
Prevalence Rate Higher In India Than Western Countries
In India, consanguineous marriage is a wide practice. The prevalence rates of these genetically-inherited rare diseases are higher in India compared to other Western countries because of their practice of consanguinity. This is marriages between people of the same kinship or ancestral origin like that of second cousins or closer.
The most common types of rare disease include Primary Immuno Deficiency in children, Thalassemia, Haemophilia, Cystic Fibrosis, Lysosomal storage disorders such as Pompe Disease, Hirschsprung disease and other muscle dystrophies, all of which have no treatment as of the moment.
Rare Diseases Are No Longer Rare
The experts said that 80 percent of rare diseases are hereditarily acquired and in 50 percent of cases, the disease begins during childhood. At present, rare diseases are no longer a rare incidence.
Around half of rare diseases affect children, leading to economic and social burden. On average, it will take about seven years to be able to diagnose a rare disease while 30 percent of children affected will not live to witness their fifth birthday.
In India, 70 million individuals are suffering these diseases and most of them are not informed. Even if they are aware, they can't afford treatment or they have limited access to health services.
"We need a more concerted effort to promote clinical research in India to find newer, affordable and effective therapies for the 70+ million patients in India who suffer from a rare disease and have an equal right to benefit from new medicines and treatment," ISCR President Suneela Thatte, said.
Organisation for Rare Disease India (ORDI) says that increased awareness, affordability and accessibility of health care are the primary needs of individuals diagnosed with rare disease. Timely diagnosis is important in determining these diseases so early treatment will also be initiated.
Photo: Tom Maisey | Flickr
