Gurugram: Ayansh Madan’s parents, a 16-month-old boy from Sector 70 who suffered from a rare genetic disorder, looking for funds for his care, which will cost more than Rs 16 Crore.
Ayansh is the only child with a type 1 spinal (high school) atrophy in Haryana at this time, according to data from the Cure High School Foundation of India, a NGO.
High school is a rare disorder that affects the muscle control of the baby and paralyzes movement with age.
This can be treated with gen therapy using zolgensma drugs, which replaces damaged genes with work copies.
Therapy can be given to a child until two years old, so Ayansh has about eight months before he cannot be treated.
His parents, Praveen (43) and Vandana Madan (37), have succeeded in collecting Rs 3.6 Crore in five months with the help of crowdfunding and social media.
“His condition deteriorates every day and his spine is crooked.
We only give him liquid food.
If he doesn’t get the medicine immediately, the condition will get worse,” Vandana said.
He is a housewife while her husband is a software engineer.
Ayansh is their only child and was born after 12 years of marriage.
The couple watched their child experienced a problem in movement only after he turned it up.
After he was diagnosed with high school, they desperately tried to raise money for his recovery.
High school is caused by the loss of nerve cells that carry electrical signals from the brain to muscle.
Although there are nearly 25 children with high school in Haryana, they are all over two years and do not qualify for gene therapy.
High schools generally affect 1 of 10,000 children globally, and almost 800 children like in India today.
Experts say most of these children die before they even reached their second year of birth.
According to Cure High School, nine babies have given up on rare diseases in this country this month, after their families provide hope to provide care.
“Blood tests are available to find the removal or mutation of the SMN1 gene, which causes high school.
This test identifies almost all patients with high school and can also reveal if someone is a damaged gene carrier that can be forwarded to children,” Dr.
CS Narayanan, Head of Department Neurology at Manipal HCMCT Hospital, Dwarka.
He added that prenatal tests such as amniocentesis and sampling villus chorionic can be carried out by pregnant women to diagnose diseases in children who have not been born.
“The steps can be taken before pregnancy to reduce the risk through high school.
The drug called Nusinersen stimulates the production of SMN1 protein, and others, Zolgensma, replaces the wrong gene,” Narouanan added.
Cure High School said the government must offer assistance to children suffering from genetic disorders.
“Children with high school do not live long without care, which are very expensive.
We try to bring more choices in India for children like that.
There are drugs that can be taken orally by a child, but can cost up to Rs 72 lakh Per year.
The government needs to provide assistance to parents by ensuring affordable treatment for such children, “said Archana Panda, Director (advocacy of patients), Cure High School.
This is a community led by parents initiated in January 2014 by a group of parents of children who suffer from high school.
Cure High School has asked Novartis, the Swiss drug maker producing Zolgensma, to make drugs available in India.
At present, sent from the US, and any delay can lead to drug expiration because it has a shelf life of about two weeks.