A baby from Bhatkai, Uttar Karnataka won a 16 crore lottery for her treatment of Spinal Muscular Atrophy, Type 1 rare genetic disease. The Baby was the lucky winner of a lottery of the compassionate access program by Novartis, the pharmaceutical company from Sweden. The very costly drug is Zolgensma which is one shot of life for children with this rare genetic disease. The lottery to win this live giving shot is held once in 14 days for children suffering from the disease around the world. This year proved to be a miracle for this baby.
The baby is receiving treatment via a dedicated Paediatric Neuromuscular Service at Baptist Hospital.
The Consultant Paediatric Neurologist and Neuromuscular Specialist, Ann Agnes Mathew told the media “The therapy is a one-time infusion that takes about an hour,”
“SMA is a disease caused by loss of nerve cells, which carry electrical signals from the brain to the muscles. The protein needed for this signalling is coded by a gene for which everyone has two copies – one from the mother and the other from the father. A child develops this disorder only if both the copies are faulty. Without treatment, this disease is ultimately fatal,”
“Zolgensma is a revolutionary treatment, which works by supplying a healthy copy of the faulty gene, which allows nerve cells to then start producing the needed protein. That halts deterioration of the nerve cells and allows the baby to develop more normally.”
However, there was one big difficulty that surfaced when the drug was stuck at customs. The drug has a 14 day shelf life and it was stuck with the customs department of India. This tensed the doctors because a life was dependent on the drug. Dr. Mathew had to personally meet the customs officials to share her concern. “When we explained the situation to them, they immediately released it. Any further delay would have been risky. The parents have taken a house on rent and are staying near the hospital for follow up. The baby is doing fine now,”
This life saving therapy was approved by U.S. regulators in May 2019 and has then turned out to be a miracle for treatment of this rare disease which destroys the infants muscle control. This happens because faulty genes copy from both the parents. a miracle drug for this rare disorder that destroys a baby’s muscle control.
The Paediatric Neuromuscular Service at Baptist Hospital is a pioneering centre in the country with a multidisciplinary team of a paediatric neurologist, paediatric neuromuscular specialist, paediatric geneticist, paediatric pulmonologist, paediatric intensivist, paediatric cardiologist and paediatric endocrinologist providing comprehensive care under one roof. This service is run in collaboration with Organisation for Rare Diseases India, a NGO.