Eight-year-old Debosmita Ghosh is a voracious reader. 바카라I am yet to finish the Harry Potter series,바카라 says the bright girl sitting on a customised wheelchair at her Bansdroni home in south-east Calcutta. Debosmita has spinal muscular atrophy (SMA)바카라a rare genetic, life-threatening neuromuscular disease. 바카라We first realised something was wrong when our daughter was four years old and multiple doctors, including her paediatrician, failed to diagnose it,바카라 says her mother Moumita Ghosh, an optometrist in a private hospital. 바카라When 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.바카라 The rare disease was confirmed when the Ghosh couple underwent a genetic test. 바카라We knew nothing about the disease and were shattered when we were told that our daughter would live only for another two years or so,바카라 says Debosmita바카라s father, Debashish Ghosh, 46, a BSNL employee. The couple decided to give their daughter all the care they could as long as she lived. 바카라SMA is recessive genetic disorder바카라a disorder carried within her DNA that she had inherited from us,바카라 says Moumita, 38. 바카라Neither Debashish nor I had any idea that we were carriers of SMA and had unintentionally passed this awful condition on to her.바카라
That was when Dr Rakesh Shah, a doctor at the Institute of Neuroscience in Calcutta, started a treatment for Debosmita. 바카라She had been diagnosed with Type-2 SMA바카라an intermediate form of the disease in which the spinal cord stars to bend and the patient바카라s respiratory health starts deteriorating바카라so there was a glimmer of hope that she could survive,바카라 says Debashish.
The couple started getting a lot of queries from parents of other children with SMA and ended up floating an organisation called Cure SMA India. Moumita says an injection called Spinraza can stop the progression of the disease, but it is exorbitantly priced. 바카라The entire treatment will cost more than Rs 5 crore in India as the drug has to be imported.바카라 The nusinersen injection, marketed as Spinraza and approved by the US Food and Drug Administration, costs $750,000 in the first year and $375,000 annually after that, making it perhaps one of the most expensive drugs in the world. 바카라Neither the Centre nor the state government has done anything for our cause,바카라 says Moumita. 바카라We have applied for loans for the treatment of the more than 300 children with SMA. But a government-appointed panel has ruled that injecting Spinraza is not a cure, so it is not value for money, neither has it been through clinical trial in India.바카라
바카라Every day we are seeing our daughter wasting away바카라all we hope is to stop the progression of the disease. Social media has helped parents come together and share our experiences with each other. That바카라s the silver lining in our struggle,바카라 says Debashish as he helps push his daughter바카라s wheelchair up the stairs to the terrace of the three-storied apartment building. 바카라We are fighting for the rights of the families who have children with rare genetic diseases,바카라 says Moumita.
