Families wait for promised medication for kids with spinal muscular atrophy

Panaji: As Ruby Borges accompanies her nine-year-old son Dylan into and out of the intensive care unit (ICU) and watches his condition gradually deteriorate, she pins all her hope on state govt.Dylan was one of the four children, all under the age of 10 years, with spinal muscular atrophy (SMA) identified by the GMC to receive costly medication free of cost, but govt’s promise made in 2024 is yet to materialise.Health minister Vishwajit Rane earlier in the week, however, announced the rollout of an innovative pricing policy for life-saving therapies for cancer and rare diseases. The families of the children with SMA are waiting in anticipation.Dylan last took the costly medication three years ago after his mother crowdfunded and also literally went door to door from North to South Goa asking for money for his treatment. Her friends and family too helped by circulating her message on social media, and she ended up collecting around Rs 45 lakh in 2021.The company offered a buy-one-get-one-free bottle of the medication, but this lasted Dylan only a year.She saw her son’s health greatly improve after the medication in 2021-2022. “He was able to sit without support, keep his neck up straight, and hold a glass in his hand,” she told TOI.

Dylan’s mother was advised by his teacher in his special school to shift him to a regular school as his IQ was very good. He now studies in Class III, but his body doesn’t always support his desire to learn.After the medication got over, his muscles began turning weak and limp, she said. “Now he gets pneumonia at least twice a year, and we spend days together in the ICU.“He loves going to school, but he has grown weak, and his hand pains when he writes.

He has lost his strength and cannot sit comfortably in his wheelchair anymore. He slumps to one side,” his mother said.Dylan goes for physiotherapy and recreational therapy to Novi Survat’s Sangolda centre. Novi Survat Goa, a children’s organisation, provides palliative care to children and their families suffering from life-limiting and life-threatening conditions to improve the quality of life.The SMA Care Group under Novi Survat was set up in Goa in 2023, with five children registered in the very first month.

By June and July 2023, the parent support group was officially formed, providing families with a platform for mutual encouragement and shared experiences.Novi Survat’s director, Dr Philomena D’Souza, has been pursuing financial assistance from state govt for the uninterrupted supply of Risdiplam, the medication, for the four children. She said that the children are desperately in need of the medication to strengthen their muscles and delay the progression of the disease.“We can see these children’s muscles just withering away. Their bones have grown thin, and they are frequently in and out of hospital and in the ICU with complications. You can see the tone of some of the children becoming very soft as their muscle power has diminished. Something needs to be done for these children,” D’Souza told TOI.