BENGALURU: Mohammad Basil and his wife Khatija from Bhatkal in Uttara Kannada had already lost their three-and-a-half-year-old son in March 2019 to Spinal Muscular Atrophy (SMA) Type-1, for the lack of access to a drug.This rare disease -- caused by the loss of nerve cells, which carry electrical signals from the brain to muscles -- was also detected in their second child, a girl, when she was three months old. She suffered weakness in hands, difficulty breathing, and was not able to hold her neck up.
By winning a lottery of Rs 16 crore, through a compassionate access programme of Direct Relief organisation, she was able to receive Zolgensma, a gene therapy treatment at Bangalore Baptist Hospital.
The protein needed for the body to carry electric signals from the brain to muscles is coded by a gene of which everyone has 2 copies -- one from the mother and the other from the father. A child develops the disorder only if both the copies are faulty.
“The drug is expensive and the country needs to bring this drug and offer it on subsidy. Even when we had to import the drug, we were made to run around by state bureaucracy as we were seeking an exemption from IGST and customs duties. The task which would take 2 hours took a whole week,” said Basil.Dr Ann Agnes Mathew, a neuromuscular specialist at Baptist, said the drug is expensive as there is not enough research done in the country. Abroad, there are funds for commercial research which is why the medicine remains costly there too.
“If we can make a Covid vaccine within a year, we can produce a drug for SMA locally too. We need a seed fund for research that could be put together by collaboration between private, government and parent groups,” she said.
Zolgensma replaces the faulty gene or makes the protein. The Paediatric Neuromuscular Service at
the hospital is run in collaboration with the NGO -- Organisation for Rare Disease India. Not everyone has been as lucky as this child.Rashmi Sampath, the mother of a 10-and-a-half-year-old girl with SMA Type-2, applied for the lottery but did not win. Her daughter continues to struggle on a wheelchair with wasting muscles and has lost the ability to walk, stand and crawl. She has contractures (tightening) in knees and ankles. She loses strength daily and is putting on weight.
“A maid stays with her in the school full time to lift and help her use the bathroom or navigate in the building. We are worried about what will happen when she gets older, and even when she hits puberty. The only treatment until we get a cure is physiotherapy,” Sampath shared.She said there are thee drugs available abroad that can cure SMA Type- 2.
One, Spinraza, costs Rs 6 crore per year and needs to be given once every three months. Another is gene therapy which is one-time and costs Rs 16 crore, but can be given to kids less than two years or below 20 kg. The third, Risdiplam costs Rs 1.5 crore and is a lifelong syrup.At Baptist Hospital, five more children are applying for the lottery. While waiting for the lottery, 38 died in the last one-and-a-half years. 200 children are getting treated just for SMA here.