Life-saving enzyme eludes genetic disorder victim - Health ministry mum on funds, idle on medicine import for Gaucher's disease patient

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  • Published 4.05.12

Battling a rare genetic disorder is perhaps easier than breaking free of red tape. Sadaf Naz and her family members have learnt this the hard way.

The 17-year-old Ranchi girl — suffering from Gaucher’s disease, which approximately occurs in one in every 100,000 live births and is normally seen among Jewish children of eastern European origin — ran from pillar to post for five days for promised remedy in New Delhi before she returned empty-handed on Thursday.

Though the Union health ministry — in the wake of solicitation from various quarters and keen interest in Sadaf’s case shown by Ranchi-born Brooklyn doctor Jamil Akhtar — had directed AIIMS to arrange for medicines, it had not clarified who would bear the expenses.

Gaucher’s disease is caused by the hereditary deficiency of glucosylceramidase. The enzyme acts on fatty acid glucosylceramide. When it is “defective”, fat accumulates in white blood cells. Glucosylceramide can also collect in the spleen, liver, kidneys, lungs, brain and bone marrow, often leading to untimely death.

Enzyme replacement is the only cure, but treatment costs between Rs 50 lakh and Rs 2 crore per annum. Even if the patient gives positive response from the beginning, the therapy will have to continue for at least five years, incurring expenses up to Rs 10 crore.

Sadaf’s father Mujib Quraishi said AIIMS officials were in a fix because they were not provided with funds. “We made our nth trip to AIIMS on Wednesday. The hospital authorities confirmed that they had received the health ministry’s letter, but in the same vein added that they did not have funds to import the enzyme and medicines,” Quraishi told The Telegraph.

The beleaguered family — Sadaf, her parents, a sibling and a cousin — had reached Delhi on April 28, hoping to meet Union health minister Ghulam Nabi Azad with request for funds. They could not manage an audience with the minister. His members of staff too remained non-committal on money matters though a letter was sent to AIIMS.

Union tourism minister and Ranchi MP Subodh Kant Sahay’s request perhaps prodded this minimal action.

“Officer on special duty at the health minister’s secretariat B.S. Ramchandran confirmed that our MP’s recommendation letter had reached them on Saturday. He said the minister had immediately forwarded it to his department secretary for action. Thereafter, we learnt that AIIMS has been directed to do the needful. We were not been able to meet the health minister, while the hospital too hasn’t done anything yet,” the worried father said.

A plywood trader in Kantatoli area, Quraishi was skimping on food and accommodation so that they could continue to stay in Delhi for Sadaf’s treatment. “But, things were becoming difficult. The daily expenses were between Rs 1,500 and Rs 2,000. We had to return,” he said.

Sahay argued that the health ministry could provide licence to import the enzyme and medicines from the US, but it needed time to examine whether funds for purchase could be released in case of an individual patient.

Dr Akhtar — a paediatrics expert at Kingsbrook Jewish Medical Center in Brooklyn who had apprised Sahay of his readiness to appear before a medical board in Delhi to explain Sadaf’s case before he left for New York on May 8 — could not be contacted.

Jharkhand Muslim Majlis Musawar, which had sponsored Sadaf’s trip to Delhi, has sought a fresh appointment with the Ranchi MP to press for Sadaf’s free treatment.