Parents of babies with Spinal Muscular Atrophy (SMA), a rare genetic disease, came together at an event organised by Bangalore Baptist Hospital in the city on Tuesday.
Raman Gowda and Beembai, parents of one-year-old Aadhya, said they are waiting for some miracle cure for their baby. Another family came down from Chennai to discuss their 3.5-year-old daughter Rudra’s daily progress with the doctor.
SMA is a disease caused by loss of nerve cells, which carry electrical signals from the brain to the muscles. The disease, as it progresses, makes it extremely difficult for the babies to carry out basic activities like sitting up, lifting their head, swallowing milk and even breathing.
The hospital has a dedicated Paediatric Neuromuscular Service, a pioneering centre in the country with a multidisciplinary team of doctors providing comprehensive care under one roof. This service is run in collaboration with Organisation for Rare Diseases India, a NGO.
A gene therapy costing ₹16 crore is the only shot of life for nearly 200 children under the care of specialists here. Last month, the gene therapy called Zolgensma, was offered free to 14-month-old baby Fatima from Bhatkal who was the lucky winner of a lottery through a compassionate access programme by Novartis, the Swiss drugmaker.
While baby Fatima was lucky, several other babies are waiting for the miracle cure. “We have registered five more children for the lottery. While one family has resorted to crowdfunding, others are desperately waiting for the expensive therapy,” said Ann Agnes Mathew, Consultant Paediatric Neurologist and Neuromascular Specialist at the hospital.
Speaking at the event, State Health Director Om Prakash Patil said the Union Ministry is working on a special programme for children with rare diseases. “We already had two-three meetings in this regard,” he said.