3 Delhi children get ₹16 crore drug for fatal genetic disease

Children with Type 1 severe SMA, accounting for 60% of those with SMA, die within the first two years of life after the respiratory muscles weaken

One-year-old Zuha’s mother Ayesha, both of whom go by one name, thought the child would meet the same fate as her brother. The boy, born in 2018, died just six months later because of a genetic disease called Spinal Muscular Atrophy (SMA), a progressive condition that affects the nerves that signal the muscle, leading to muscular weakness. Children with Type 1 severe SMA, accounting for 60% of those with SMA, die within the first two years of life after the respiratory muscles weaken.

Sir Ganga Ram Hospital in New Delhi. (HT file)

“She was normal for two months but after that, her activities reduced significantly. That’s when we suspected she might have SMA just like her brother. We got her tested and by October, we had a diagnosis of Type 1 SMA,” said Ayesha. This time, however, there was a treatment.

The US Food and Drug Administration approved the gene therapy-based medicine, Zolgensma, in 2019. The medicine replaces the defective SMN 1 gene, thereby producing the protein needed to keep the connection to the muscles alive.

But the single dose therapy costs ₹16 crore. “We had given up hope. That’s when I saw the news about a baby from Mumbai whose parents crowd-funded the treatment,” said Ayesha.

Zuha is one of the first three babies in Delhi to receive the therapy at Sir Ganga Ram hospital three weeks ago. “The medicine is expensive, but we were able to get it through the managed access programme of Novartis, the company that manufactures the drug; it is a lottery system of free doses for those who cannot afford it,” said Dr Ratna Puri, chairperson of the Institute of Medical Genetics and Genomics at Sir Ganga Ram hospital.

She said, “This is a game-changer. This is the first time a therapy exists for children who would have died otherwise. The babies are now doing well and the mothers have reported some increase in activities –one child can hold their milk bottle, another is using their leg. Of course, it is early and the children will have to continue physiotherapy.”

Ahmedi Khatun’s 1.5-year-old could not stand or sit up properly. “Everyone kept saying that it was because he was healthy. But, I had my doubts. Two of my older daughters were also born healthy but by his age they could walk. So, I decided to take him to a doctor in Benaras who told us he has a rare disease and asked us to come to Delhi for the treatment,” said Ahmedi. She too was able to get the medicine through lottery system.

The third child to receive the therapy is a one-year-old with type 1 SMA. The doctors refused to give any details without the parents’ consent.