A 16-month-old girl with a rare genetic disorder received a ₹16-crore medicine at a city hospital on Tuesday.

The child’s parents raised ₹9 crore through crowdfunding, following which the US-based manufacturer of the medicine shipped it to the city. A doctor said they hoped the company would not press for the remaining amount.

The baby from Ranaghat in Nadia is suffering from spinal muscular atrophy (SMA) Type I, a condition that causes progressive weakening of the muscles and nerves. Children with the disease are unable to sit without support.

“This medicine must be administered before the child turns 2. I have seen many babies with SMA Type I who didn’t survive beyond 2 years while waiting for the medicine,” said Sanjukta De, clinical director of the paediatrics department at Peerless Hospital, who is treating the baby.

“In SMA Type I, the child’s condition progressively worsens. They have trouble swallowing and often develop respiratory complications such as pneumonia.”

The drug

The medicine, with the generic name Onasemnogene abeparvovec, has shown significant improvement in the condition of children with the disorder, doctors said.

SMA Type I is caused by a missing or faulty SMN1 gene, which produces a protein essential for the survival of motor neurons.

The medicine works by replicating the gene, enabling the production of the crucial protein.

Very few children in the state have received the medicine so far, said De. Two of them, including the baby who received it on Wednesday, were at Peerless. A third child received it at NRS hospital.

Jasodhara Chaudhuri, assistant professor of neuromedicine at NRS Medical College and Hospital, said the boy he treated in May 2024 was a year-and-a-half old and unable to walk or sit. “He can now sit without support and even recite rhymes,” she said.

“In India, the disease is often diagnosed late due to various factors. The earlier the medicine is given, the better the outcome, as some damage becomes irreversible over time,” said De.

Crowdfund drive

Suvongkar Das, the father of the 16-month-old, told The Telegraph that the funds were raised through contributions from politicians, celebrities, municipalities across Bengal, and many private donors.

“I approached content creators, social media influencers, and also used a crowdfunding platform to raise the money. Our crowdfunding efforts began last August,” Das said.

“The Union government’s rare diseases policy includes a one-time grant of ₹50 lakh for children suffering from rare diseases. Even in government hospitals, accessing this medicine without crowdfunding or alternative funding sources is nearly impossible,” said Suchandra Mukherjee, head of neonatology at SSKM Hospital and the state’s nodal officer for rare diseases.

“There are currently 750 children with rare diseases registered at SSKM Hospital.”

SSKM is one of eight centres of excellence designated by the Centre for diagnosis, prevention, and treatment of rare diseases across the country.