BENGALURU: On the sets of KBC, Spinal Muscular Atrophy (SMA) suddenly got the limelight it deserved when Amitabh Bachchan announced that he would like to donate for the Rs 16 crore one-time Zolgensma drug for a child suffering from this fatal rare disease. The drug, the most expensive in the world, and Spinraza that costs Rs 78 lakh per vial (needed for a lifetime) are administered to children with SMA, at Bangalore Baptist Hospital, which is home to India’s only paediatric neuromuscular centre.
“SMA has a wide spectrum of severity. At its severest, babies are weak from birth. Even at three months, they cannot balance their neck. They have restricted hand and leg movement, cannot swallow, stand or walk, depending on the intensity of the disease,” said Dr Madhuri Maganthi, Consultant (Paediatrician & Specialisation in Paediatric Genetics) and Head of the Department at Baptist. SMA is caused by the loss of nerve cells. While the company that manufactures Zolgensma offers it for free to some patients in the world on a lottery system, NGO Direct Relief sponsors Spinraza through their compassionate access programme to select patients.
Bheemakshi, a farmer from Gadag, lost her first baby to SMA. Tragically, her second baby too was diagnosed with the condition. He was well for a month, but suddenly stopped all movements and had trouble breathing. “We were referred to this hospital where he was given the Rs 16 crore drug through the lottery. He is moving now, but is still feeding through a tube. I feel braver now,” she said. Her brother Rangappa said access to this drug is extremely difficult and it should be made available in India.
Parvathi Urs came to Baptist to avail Spinraza for her 15-year-old daughter. Even after getting older, her child could not run or jump, squat and get up without support, which they initially misinterpreted as a delayed milestone. “It is shocking for any parent to know their child has SMA. It was not at all easy to get access to the drug and many kids never get it. As it is a lifelong treatment, my husband has retired to take care of her,” she said.
Urs’ husband Arnob Saha said few doctors have expertise on this disease, but slowly, awareness is rising. In India, awareness has grown due to people like Dr Ann Agnes Mathew, a neuromuscular specialist and visiting consultant at Baptist who works pro bono here, he added. “She brought in knowledge from the UK, developed a hospital, patient and clinical network and is an anchor for SMA in the country,” Saha said. He and other parents have built a close-knit parent support group at this hospital where they share knowledge and assistance around managing SMA.
This is the first in a two-part series on spinal muscular atrophy (SMA).