Rohit and Anshuma Rastogi spend millions every 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, specialized nerve cells that control muscle movement.
WHAT IS SMA AND WHY IS THE PATIENTS A FINANCIAL BURDEN?
Spinal muscular atrophy (SMA) is a genetic disorder affecting the nerves that control muscle movement, leading to muscle weakness and atrophy.
It results from a mutation in the SMN1 gene that causes the body to produce insufficient survival motor neuron (SMN) protein. This condition mainly affects infants and children, affecting their ability to move, swallow and breathe. There are four main types of SMA.
Over time, a person with SMA type 2 or type 3 loses movement in their arms and legs and becomes wheelchair-bound. Types 0 or 1 cause severe muscle weakness, breathing difficulties and intense coughing.
About 4,000 babies are born with SMA in India every year, with one in 38 people carrying 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 17 million rupees, and two other drugs – Nusinersen (87 million rupees) and Risdiplam (6.2 million rupees per bottle, the cheapest, but given only to adults).
Zolgensma is one of the most expensive drugs in the world.
Both Akshat, 26, and Roli, 28, are being treated with Risdiplam, which is given orally to increase the concentration of the SMN protein to maintain motor neurons in the body.
Risdiplam worth Rs 6 lakh only lasts for 12 days and the drug is not always available. The Rastogis, who run a stationary business in Varanasi, are struggling to afford it.
Akshat and Roli, who have SMA type 2, are confined to a wheelchair. During her school years, Roli was confined to the ground floor, which prevented her from attending computer practical classes on the first floor. Despite this, she excelled academically and now spends her time creating mandalas and writing poetry. He is currently preparing for bank exams.
Akshat was educated at home by his parents. Although he was able to move his hands for a while, his condition has worsened with age and his hands no longer work. Now in his early 20s, Akshat has become a district-level chess champion and dreams of becoming like Viswanathan Anand.
In 2022, the Rastogis met Prime Minister Narendra Modi and Uttar Pradesh Chief Minister Yogi Adityanath to appeal for greater government involvement in SMA treatment. Still, the family, who travels frequently on the road, has found little relief in the cost of treatment or availability.
“Medicines are hard to come by. We live in Varanasi and have to travel to Lucknow to get medicines, which takes only 12 days. Then we have to wait for medicines to be available again,” said Roli.
dr. Rakesh Mishra, director of the Tata Institute for Genetic and Society (TIGS), revealed that delayed diagnosis is a major problem in rare diseases. An accurate diagnosis can sometimes take years.
Rare DISEASES AND SMA TREATMENT IN INDIA
Rare diseases in India have received increased government attention in recent years.
dr. L. Swasticharan, Additional DDG and Director of Emergency Medical Services under the Ministry of Health and Family Welfare, said the treatment of patients has increased from zero to Rs 82 crore in the last three years.
He added that the Ministry of Health is considering the creation of a specialized technical expert group (TEG) focused on spinal muscular atrophy.
“If we can successfully solve the problem 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 the treatment of patients.
In 2022-23, about 203 patients received Rs 35 crore for treatment. In 2023-24, this amount has increased to Rs 74 crore. A budget of Rs 82.4 crore has been allocated for the current fiscal year, of which Rs 34.2 crore has already been disbursed.
Several states, including Bihar, Odisha, Rajasthan and Kerala, have provided schemes, treatment availability and employment opportunities to SMA patients. However, Uttar Pradesh still lags behind.
dr. Swasticharan emphasized the need for domestic research, supportive therapy and CSR funding.
“Awareness of rare diseases is low even among clinicians and few of them work in this field. Synergy between the government and the medical community is needed to tackle this problem. We have a national policy on rare diseases and a mechanism to include other “orphan diseases in list,” he said.
In India, most parents rely on crowdfunding and humanitarian programs to obtain SMA drugs.
CureSMA India, a parent advocacy group, petitioned the Delhi High Court last year to remove the 12% GST on the drug.
In July 2023, the court directed the National Committee for Rare Diseases, an expert group set up to implement India’s rare disease policy, to engage with manufacturers to explore price reductions for SMA drugs.
While the Rastogis are turning to various sources, such as crowdfunding, to get Risdiplam for their children, progress in research, affordability and new drugs remains slow but continues.
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