Listen to Story Rohit and Anshuma Rastogi have been spending lakhs each year to keep their children alive. Their son and daughter, Akshat and Roli, were born with a genetic disorder called Spinal Muscular Atrophy (SMA), which causes muscle weakness and atrophy, along with severely low immunity. This occurs due to the loss of motor neurons, specialised nerve cells that control muscle movement.
WHAT IS SMA AND WHY IS IT A FINANCIAL BURDEN ON PATIENTS? Spinal Muscular Atrophy (SMA) is a genetic disorder affecting nerves that control muscle movement, leading to muscle weakness and atrophy. It results from a mutation in the SMN1 gene, which causes the body to produce insufficient survival motor neuron (SMN) protein. This condition primarily affects infants and children, impacting their ability to move, swallow, and breathe.
There are four main types of SMA. Over time, a person with Type 2 or Type 3 SMA loses movement in their hands and legs, becoming wheelchair-bound. Types 0 or 1 cause severe muscle weakness, breathing difficulties, and intense coughing.
SMA patients Akshat and Roli met PM Narendra Modi in 2022. In India, approximately 4,000 children are born with SMA each year, with one in 38 people being a carrier of the faulty gene that causes the disease. WHAT IS THE TREATMENT FOR THIS RARE GENETIC DISEASE? There are three types of treatment: gene therapy Zolgensma, which costs Rs 17 crore, and two other drugs — Nusinersen (Rs 87 lakh) and Risdiplam (Rs 6.
2 lakh per bottle,.