Hyderabad: Approximately 72.6 million people in India are suffering from rare diseases. During the seventh International Rare Diseases Day on Wednesday, experts said that 5 lakh of them are in AP.
There are 7,000 types of rare diseases that have been reported and recorded in medical journals. The prevalence of rare diseases varies from 6 to 8 per cent of the population. If there are 27 million babies born every year, the prevalence is between 3,000 to 5,000 live births.
Dr Radha Rama Devi, who conducted a survey in Hyderabad from 2012 to 2015, spoke of lysosomal storage disorders. It is the result of a disorder in enzymes, which are not present in the body to break down certain substances.
Lack of these lysosomals affects multiple organs leading to development delay, enlarged liver, enlarged spleen, bone crisis, pulmonary and cardiac problems.
“We found 30 per cent suspected patients, but enzyme replacement treatment could not be offered as it was very expensive. Due to this, disability sets in the patients and most of them get bed-ridden before they are 18,” she said.
President of the LSD Support Society of Telangana, Manjit Singh, said, “These disorders require medical aid from the government. They do not require money but they require support in terms of free treatment and medical aid.”
Rare diseases in India do not have any defined treatments and are called “orphan” diseases. Eighty per cent of rare diseases have genetic origins and the rest are a result of bacterial, viral infections, allergies and degenerative causes.
Seventy-five per cent of the diseases manifest early in life and affect children early. Fifty children from various parts of the state who are suffering from these diseases narrated their experiences about how the cure was a major problem.
Dr Meenakshi Bhatt, consultant clinical geneticist, said, “We have 22,000 genes in our system of which 4,600 are known to be associated with rare diseases. With limited diagnosis, medical treatment or cure, the mortality rate among patients suffering from rare diseases is high.”
