Over a yr on ventilator, 18-month-old girl with rare disease battles for life

Kolkata: Despite being on ventilation for more than a year now at Institute of Child Health (ICH) Kolkata, 18-month-old Aditri — who is suffering from a rare genetic disease — is yearning for a life ahead. The girl was only two-months-old, when doctors detected that she was suffering from SMA (spinal muscular atrophy), type 1, the most aggressive form of this genetic condition.
There is no cure, but a one-time gene therapy with the drug—Zolgensma—that costs Rs 9 cr can help her manage the condition and improve her quality of life. However, the girl's family can't afford the treatment. This genetic disease causes progressive muscle weakness, leading to difficulty in breathing, swallowing, and feeding. Many children with this condition do not live beyond two years without significant intervention. "Doctors said that the best time to give the gene therapy is within two years of age. As a small-time fish trader, the cost is beyond my reach. We want to try everything to save her," said her father, Subinay Mondal from Rajarhat. In the meantime, Aditri is receiving Rispiplam, an oral syrup that works by increasing a specific protein found deficient in individuals with SMA. The girl is getting this drug, which costs Rs 6 lakh per vial, free-of-cost from SSKM's Centre of Excellence for Rare Diseases. "In between, she even suffered an adenovirus infection, and she came out of it despite severe lung damage. Many children with SMA die by a year without intervention. Her brain function is normal, and we do not want to loose hope. Even as time is running out, we still want to offer her a chance at life if we get the gene therapy medicine," said paediatric intensivist, Prabhas Prasun Giri, the Pediatric Intensive Care Unit (PICU) in-charge at ICH.A crowdfunding initiative was started months ago for five such children from Bengal, including Aditri, who are suffering from the disease. The bill for her treatment under ventilation for 12 months at ICH accumulated to around Rs 50 lakh. "Despite the escalating cost, the hospital did not ask us to clear the bill, which is a huge help . Our local MLA Tapas Chatterjee helped in raising funds for the gene therapy. But how much can one single person contribute for this expensive drug? We are still hoping for more people to come forward and help us save her," the father said.