A costly hope: The financial burden of a rare genetic disease in India

Rohit and Anshuma Rastogi have been spending lakhs every year to keep their children alive.

Their son and daughter, Akshat and Roli, were born with a genetic disease called Spinal Muscular Atrophy (SMA), which causes muscle weakness and atrophy, as well as a severely weakened immune system.

This occurs due to the loss of motor neurons, specialized nerve cells that control muscle movement.

WHAT IS SMA AND WHY IS IT A FINANCIAL BURDEN FOR PATIENTS?

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the nerves that control muscle movement, causing muscle weakness and wasting.

It is caused by 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, affecting 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 arms and legs, and becomes confined to a wheelchair. Type 0 or 1 causes severe muscle weakness, breathing problems, and severe coughing.

In India, about 4,000 children are born with SMA each year, with one in 38 carrying the faulty gene that causes the disease.

WHAT IS THE TREATMENT OF THIS RARE 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, which is more expensive but is 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, administered orally to increase the concentration of SMN protein to maintain motor neurons in the body.

6 lakh Risdiplam lasts only 12 days, and the drug is not always available. The Rastogis, who run a stationary business in Varanasi, are struggling to make ends meet.

Akshat and Roli, who have SMA Type 2, use wheelchairs. During his school years, Roli was confined to the ground floor, preventing him from attending practical computer classes on the first floor. Despite this, she excelled academically and now spends her time creating mandala art and writing poetry. He is currently preparing for bank exams.

Akshat was home schooled 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 twenties, 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. Despite this, the family, which often travels by road, has found little relief in medical expenses or access.

“The medicine is not available. We live in Varanasi and have to travel to Lucknow to get the medicine, which lasts only for 12 days. Then we have to wait for the medicine to be available again,” said Roli.

Dr. Rakesh Mishra, Director of the Tata Institute of Genetics and Society (TIGS), revealed that delayed diagnosis is a major issue with rare diseases. Sometimes it can take years for a proper diagnosis.

RARE DISEASE AND TREATMENT OF SMA IN INDIA

Rare diseases in India have received a lot of attention from the government in recent years.

Dr. L. Swasticharan, Additional DDG and Director of Emergency Relief under the Ministry of Health and Family Welfare, said that treatment for patients has increased from zero to 82 million in the last three years.

He added that the Ministry of Health is considering creating a special Technical Expert Group (TEG) focusing on Spinal Muscular Atrophy.

“If we can successfully solve the challenge of SMA, the model can be replicated for other rare diseases in the country,” he said at a recent SMA event, noting that a fund for rare diseases 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 increased to Rs 74 crore. For this financial year, a budget of Rs 82.4 crore has been allocated, and Rs 34.2 crore has already been released.

Several states, including Bihar, Odisha, Rajasthan, and Kerala, have provided programs, access to treatment, and employment opportunities for SMA patients. However, Uttar Pradesh still lags behind.

Dr. Swasticharan emphasized the need for indigenous research, dependent medicine, and CSR funding.

“Awareness of rare diseases is low even among physicians, and few are working in this area. Synergy between the government and the medical community is needed to face this challenge. We have a national policy on rare diseases and a mechanism to include more “children’s diseases orphans in the list,” he said.

In India, most parents rely on crowdfunding and humanitarian programs to get SMA drugs.

CureSMA India, a parent-led advocacy group, filed a petition in the Delhi High Court last year to remove the 12% goods and services tax on the drug.

In July 2023, the court directed the National Committee for Rare Diseases, an expert panel set up to implement India’s rare disease policy, to collaborate with manufacturers to explore reducing the price of SMA drugs.

With the Rastogis turning to various sources such as crowdfunding to buy Risdiplam for their children, progress in research, affordability and new drugs remains slow but ongoing.