100 victims of rare genetic disorder suffering in silence

100 victims of rare genetic disorder suffering in silence

Absence of expert doctors in State, costly treatment weigh them down

100 victims of rare genetic disorder suffering in silence

Victims of Mucopolysaccharidosis (MPS), a rare genetic disorder, have been suffering silently as there are few expert doctors who could treat them and the cost of treatment of high. There are 100 MPS victims in Karnataka at present, according to the Organization for Rare Diseases India (ORDI).

Jayanth Gowda, 22, and his younger sister Rekha K, 20, have been suffering from this disorder for over a decade. They spend Rs five lakh every year on treatment, including annual MRI scans, sleep study, blood tests, etc. The siblings, who live in Mandya, have to come to Bangalore for consultation and undergo tests from expert doctors as there are no qualified doctors in their hometown.

Wrong diagnoses

Jayanth’s mother, Bhavani P B, said that her son was wrongly diagnosed during his early stage of disorder. “He developed the symptoms when he was three years old.

We took him to a doctor in Mysore who mistook the disease for rickets and suggested vitamin D supplementation. But his health didn’t improve. We took him to several hospitals. Dr Vishwanath at the M S Ramaiah Hospital finally suspected the disease and referred him to the National Institute of Mental Health and Neurosciences (Nimhans).

There Dr Rita Christopher diagnosed his disease,” Bhavani said.

Dinesh H, a Bangalorean, said he had to go to Australia for treatment and proper diagnosis of his son’s medical condition. His son was suspected to be suffering from MPS 3A. “I browsed the Internet for expert doctors in diagnosing this disease, but I found none,” he added.

Prasanna Kumar Shirol, Founder president, ORDI, said MPS was caused by the malfunctioning or absence of lysosomal enzymes vital for building bones, skin, connective tissue, cartilage, tendons and corneas.

High costs

“Patients have to take intravenous injections every 15 days to restore the enzymes. They have to fork out over Rs 30 lakh on treatment and the costs of supportive care is Rs 50,000-60,000 a month,” he explained.

According to Dr Meenakshi Bhat, geneticist at the Centre for Human Genetics and consultant at the Indira Gandhi Institute of Child Health, not all patients can afford the costly treatment.

 “The cheapest treatment available for the disorder costs Rs 50 lakh per year.
“The State government should allocate funds for its hospitals for treating MPS patients and increase the number of expert doctors in this field,” she added.

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