3 days Ago
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, the least expensive but only given to adults). Zolgensma is one of the most expensive drugs in the world. Both Akshat, 26, and Roli, 28, are treated with Risdiplam, administered orally to increase the concentration of SMN protein to maintain motor neurons in the body.
The Rs 6 lakh Risdiplam lasts only 12 days, and t he medicine is not always available . The Rastogis, who run a stationary business in Varanasi, struggle to afford it. Akshat and Roli, who have Type 2 SMA, are wheelchair-bound.
During her school years, Roli was confined to the ground floor, preventing her from attending computer practical classes on the first floor. Despite this, she excelled academically and now spends her time creating mandala art and writing poetry. She is currently preparing for banking exams.
Akshat with his awards after winning at chess tournaments. Akshat was homeschooled by his parents. While he could move his hands for a time, his condition has worsened with age, and his hands no longer function.
Now in his late twenties, Akshat has become a district-level chess champion and dreams of becoming like Viswanathan Anand. In 2022, the Rastogis met with Prime Minister Narendra Modi and Uttar Pradesh Chief Minister Yogi Adityanath to appeal for greater government involvement in SMA treatment. Despite this, the family, who often travels by road, has found little relief in treatment costs or availability.
"The medicines are hardly available. We live in Varanasi and have to travel to Lucknow to get the drugs, which only last 12 days. Then we have to wait for the drugs to be available again," said Roli.
Roli, who has Type 2 SMA, shows her Mandala art. Dr. Rakesh Mishra, Director of the Tata Institute for Genetics and Society (TIGS), revealed that delayed diagnosis is a major issue with rare diseases.
It can sometimes take years for an accurate diagnosis. RARE DISEASE AND SMA TREATMENT IN INDIA Rare diseases in India have gained increased attention from the government in recent years. Dr.
L. Swasticharan, Additional DDG & Director of Emergency Medical Relief under the Ministry of Health and Family Welfare, stated that treatment for patients has increased from zero to Rs 82 crore in the past three years. He added that the health ministry is considering forming a specialised Technical Expert Group (TEG) focused on Spinal Muscular Atrophy.
"If we can successfully solve the challenge of SMA, the same model can be replicated for other rare diseases in the country," he said at a recent SMA event, noting that a rare disease fund has been established to support patient treatment. Roli presented her art to UP Chief Minister Yogi Adityanath. In 2022-23, about 203 patients received Rs 35 crore for treatment.
In 2023-24, this amount increased to Rs 74 crore. For the current fiscal year, a budget of Rs 82.4 crore has been allocated, with Rs 34.
2 crore already disbursed. Several states, including Bihar, Odisha, Rajasthan, and Kerala, have provided schemes, treatment availability, and employment opportunities for SMA patients. However, Uttar Pradesh still lags.
Dr. Swasticharan emphasized the need for indigenous research , supportive therapy, and CSR funding. "Awareness of rare diseases is low even among clinicians, and few are working in this area.
A synergy between the government and the medical community is needed to address this challenge. We have a national policy for rare diseases and a mechanism to include more 'orphan' diseases in the list," he said. In India, most parents rely on crowdfunding and humanitarian programs to obtain SMA drugs.
CureSMA India, a parent-led advocacy group, petitioned the Delhi High Court last year to remove the 12% goods and services tax on the drug. In India, one in 38 people is a carrier of the faulty gene that causes SMA. (Photo: Getty Images) In July 2023, the court instructed the National Rare Diseases Committee, an expert panel established to implement India's rare disease policy, to engage with manufacturers to explore reducing SMA drug prices.
While the Rastogis turn to various sources like crowdfunding to procure Risdiplam for their children, progress in research, affordability, and new drugs remains slow but ongoing..
