A discussion on the needs of those affected with rare disorders

While efforts of the medical fraternity across the world have gone a long way in ameliorating human suffering, there are still several frontiers to be breached and many a mystery to be unravelled. In a significant step in this direction, this past Sunday was celebrated as International Rare Disease Day, with a day-long symposium at Sir Ganga Ram Hospital. It was organised under the aegis of Lysosomal Storage Disorders (LSD) Support Society of India (LSDSSI).

Speaking on the occasion, B.K. Rao, chairman, Board of Management of the hospital said, “With merely 1.8 per cent of GDP being earmarked for the medical sector in the Budget, the distribution of funds for various streams becomes limited. It is here that private contributions can go a long way in furthering research.” He added, “We have a specialised Department of Genetic Medicine that tells expecting mothers about defects in the embryo and allows them to take a suitable decision; we are spreading this to other parts of the country as well.”

Metaboliic disorders

The event brought together close to 100 patients suffering from LSDs - which in medical parlance are “a group of 40 rare inherited metabolic disorders that result from absence/malfunctioning of a specific enzyme in the body and include Gaucher, MPS, Fabry and Pompe” and their families. Sharing his experience, a BBA student said, “I was born a normal child, but at the age of three, the symptoms started appearing and it was only much later that Gaucher was confirmed; from there a series of treatments commenced, with doctors from AIIMS, medicines from abroad and enzyme replacement therapy led to my remarkable recovery”.

A common viewpoint echoed by all present, including P.K. Shirol, president of LSDSSI and father of a ten-year-old girl suffering from Pompe, is the ‘lack of specific health policies and scarcity of expertise that leads to a cycle of delayed diagnosis and difficulty to access healthcare which involves Enzyme Replacement Therapies'. As Shirol emphasised, “LSDSSI is a group made up of people who know how it is to live with LSDs, including parents, patients and caregivers; it recognised the plight of parents seeking treatment and awareness, and so the aim of the society is to educate and garner regulatory support”.

As Dr. I.C. Verma, chairperson, Department. Of Genetic Medicine at the hospital said, “Several rare diseases are extremely disabling, life threatening and even when treatment is available the prohibitive cost can be a deterrent”. In such a scenario, support groups can go a long way in addressing concerns of caregivers.