Patient with rare genetic disease seeks govt help

Samaan Lateef

Tribune News Service

Srinagar, March 8

A health programme organised at GB Pant Children Hospital here brought to the fore the helplessness of children suffering from rare diseases in the absence of proper government funding for their treatment.

Thirteen months old Ayan Basharat of Bijbehara in south Kashmir’s Anantnag district is suffering from Gaucher’s disease - a genetic disorder in which fat gets accumulated around vital organs. “If left untreated, 50 per cent patients die within the first year of their birth. A few who survive longer become dependent and debilitated,” said Dr Shafkat Khan, medical superintendent of GB Pant Children Hospital.

Ayan was only nine months old when he was diagnosed with the disease by doctors at GB Pant Children Hospital. However, since then his family has been moving from pillar to post for treatment, which is out of bounds for them. Gaucher’s disease is treated by enzyme replacement therapy. “I can’t afford it. There are many such cases and we want the government to come up with a policy to help us,” Ayan’s father Basharat Ahmad said.

While the state government has “no policy” for the healthcare of patients suffering from rare diseases, a New Delhi-based Lysosomal Storage Disorder Support Society (LSDSS) last week organised an awareness programme about rare diseases at the GB Pant hospital.

“Rare diseases are not covered under any policy in the state. However, we will push for inclusion of treatment of Gaucher’s disease in the Rashtriya Bal Swasthya Karyakram (RBSK),” Dr Khan said. Under the RBSK scheme, children up to the age of 18 years and affected by 30 selected diseases can get free of cost treatment in government hospitals.

Manjeet Singh, president, LSDSS, asserted that the society was providing free treatment to three Gaucher’s disease patients in Kashmir. “But there will be scores of unknown cases suffering from this life-threatening disease,” he said. Both the Centre and state government require coming forward for financing treatment of such patients, he said. Doctors at GB Pant hospital stressed the need for increasing awareness and compulsory prenatal screening for early detection of this disease. “Awareness, accessibility and affordability are key needs of such patients,” said Dr Muzaffar Jan, head, Department of Paediatrics, GB Pant hospital. He said they would soon be maintaining a registry of such patients to know the extent of prevalence of the disease in Kashmir.