Gurugram: For boy with genetic disorder, a drug of hope | Gurgaon News – Times of India

GURUGRAM: The parents of Ayansh Madan, a 16-month-old boy from Sector 70 who is suffering from a rare genetic disorder, are seeking funds for his treatment, which will cost over Rs 16 crore. Ayansh is the only child with spinal muscular atrophy (SMA) type 1 in Haryana at present, according to data from Cure SMA Foundation of India, an NGO.
SMA is a rare disorder that affects a baby’s muscle control and paralyses movement with age. It can be treated by gene therapy using the drug Zolgensma, which replaces the defective gene with a working copy. The therapy can be given to a child till the age of two, so Ayansh has around eight months before he can’t be treated. His parents, Praveen (43) and Vandana Madan (37), have managed to raise Rs 3.6 crore in five months with the help of crowdfunding and social media.
“His condition is deteriorating every day and his spine has bent. We are giving him only liquid food. If he doesn’t get the cure soon, his condition will further deteriorate,” Vandana said. She is a homemaker while her husband is a software engineer. Ayansh is their only child and was born after 12 years of marriage. The couple noticed their child was having issues in movement only after he turned one. After he was diagnosed with SMA, they have been desperately trying to raise money for his cure.
SMA is caused by loss of nerve cells that carry electrical signals from the brain to the muscles. Though there are nearly 25 children with SMA in Haryana, they all are above two years and are not eligible for gene therapy. SMA generally affects 1 in 10,000 children globally, and there are nearly 800 such children in India at present.
Experts said most of these children die before they even reach their second year of birth. According to Cure SMA, nine babies have succumbed to the rare disease in the country this month, after their families gave up hope of affording the treatment.
“A blood test is available to look for deletions or mutations of the SMN1 gene, which causes SMA. This test identifies almost all patients with SMA and may also reveal if a person is a carrier of a defective gene that could be passed on to children,” Dr CS Narayanan, head of the department of neurology at HCMCT Manipal Hospitals, Dwarka, said.
He added that prenatal tests like amniocentesis and chorionic villus sampling can be undertaken by pregnant women to diagnose the disease in unborn children. “Steps may be taken before pregnancy to lower the risk of passing on SMA. A drug called Nusinersen stimulates production of SMN1 protein, and another, Zolgensma, replaces the faulty gene,” Narayanan added.
Cure SMA said the government should offer relief to children suffering from the genetic disorder. “Kids with SMA don’t live for long without treatment, which is very costly. We are trying to bring more options in India for such children. There is a medicine which can be taken orally by a child, but it can cost up to Rs 72 lakh per year. The government needs to provide some relief to parents by ensuring affordable treatment for such children,” said Archana Panda, director (patient advocacy), Cure SMA. It is a parent-led community initiated in January 2014 by a group of parents of children suffering from SMA.
Cure SMA has requested Novartis, the Swiss drugmaker that manufactures Zolgensma, to make the drug available in India. At present, it is sent from the US, and any delays could lead to the expiry of the drug as it has a shelf life of around two weeks.


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