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'We Are Fighting For Rights Of Families Who Have Children With Rare Genetic Diseases'

Eight-year-old Debosmita Ghosh has spinal muscular atrophy —a rare gene­tic, life-threatening neuromuscular disease.

'We Are Fighting For Rights Of Families Who Have Children With Rare Genetic Diseases'
Debosmita 8 | Photograph by Sandipan Chatterjee
'We Are Fighting For Rights Of Families Who Have Children With Rare Genetic Diseases'
outlookindia.com
2019-06-14T11:44:43+05:30

Eight-year-old Debosmita Ghosh is a voracious reader. “I am yet to finish the Harry Potter series,” says the bright girl sitting on a customised wheelchair at her Bansdroni home in south-east Calcutta. Debosmita has spinal muscular atrophy (SMA)—a rare gene­tic, life-threatening neuromuscular disease. “We first realised something was wrong when our daughter was four years old and multiple doctors, including her paediatrician, failed to diagnose it,” says her mother Moumita Ghosh, an optometrist in a private hospital. “When she stopped crawling, we knew something was not right. We ran a series of tests and consulted a number of doctors, one of whom said it could be a case of SMA and advised us to approach the National Institute of Mental Health and Neurosciences in Bangalore.” The rare disease was confirmed when the Ghosh couple underwent a genetic test. “We knew nothing about the disease and were shattered when we were told that our daughter would live only for another two years or so,” says Debosmita’s father, Deba­shish Ghosh, 46, a BSNL employee. The couple decided to give their daughter all the care they could as long as she lived. “SMA is recessive genetic disorder—a disorder carried within her DNA that she had inherited from us,” says Moumita, 38. “Neither Debashish nor I had any idea that we were carriers of SMA and had unintentionally passed this awful condition on to her.”

That was when Dr Rakesh Shah, a doctor at the Institute of Neuroscience in Calcutta, started a treatment for Debosmita. “She had been diagnosed with Type-2 SMA—an intermediate form of the disease in which the ­spinal cord stars to bend and the patient’s ­respiratory health starts deteriorating—so there was a glimmer of hope that she could survive,” says Debashish.

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