The Gufrans are paying a high price to keep their children alive.
Affan and Erhan are two young boys, seven and five years old, who have a rare genetic disorder called Spinal Muscular Atrophy (SMA). This condition makes their muscles weaken and affects their ability to breathe. They need special exercises and treatments to help them, which cost their family a lot of money each month. The boys require constant attention because they can’t sit, stand, or walk on their own. This means their family has to take care of them all the time.
Zeba Gufran, the boys’ mom, wants to try a special treatment called gene therapy for her sons. But it’s incredibly expensive – one dose costs a lot of money, around 175 million rupees! This treatment, called Zolgensma, is one of the priciest medicines in the world. It’s given just once, usually to very young children. The Gufran family is really hoping for a miracle because they can’t afford it on their own.
In India, many parents, like the Gufran family, can’t afford to buy expensive medicines like Zolgensma for SMA, a rare disease. Even though we don’t have exact numbers, studies suggest that SMA affects about 1 in 10,000 newborns in India. Also, one out of every 38 people in India carries the gene that causes SMA, compared to one out of every 50 in the West.
In some countries, the government or health insurance helps cover the cost of these medicines. For example, in the UK, the National Health Service provides SMA medicines, and in Australia, eligible patients can get these expensive drugs at a lower cost.
In India, people often ask for help from others through crowdfunding to afford these treatments. But now, more and more patients and their families are joining together to ask the government to lower the prices of these drugs, because they’re very important for people with rare genetic diseases.
There are some diseases that are very rare, and most of them don’t have any approved treatments yet. But there have been some important advances in medicine recently, which means that now there are treatments available for certain genetic conditions like SMA and Duchenne Muscular Dystrophy (DMD). These conditions cause problems with muscles.
In March, more than 100 parents in Delhi, the capital of India, held a rally to ask the government to bring these new treatments to India. They also want the government to provide free medicine and special exercises (physiotherapy) for all children with DMD.
India has a policy to help people with rare diseases, but experts say it hasn’t been put into action properly yet.
SMA is one of the more well-known rare diseases in India, partly because of successful fundraising efforts. This disease happens because of a problem in a gene called SMN1, which makes a very important protein needed for motor neurons to stay healthy. Over time, SMA makes it harder for a person to walk, talk, eat, and breathe.
Dr. Sheffali Gulati, who is a doctor that helps children with nerve and brain issues at a big hospital in Delhi, says there are four main types of SMA.
- Type-1: the most severe and common version, where symptoms show up at birth or by the age of six months. Children have floppy limbs, don’t reach motor milestones and most patients don’t live beyond two years.
- Type-2:has its onset between three and 15 months of age. Though these children can sit, they can’t stand or walk on their own.
- Type-3 and Type-4 are less severe, but in these cases too gradual muscle deterioration is imminent, shortening the person’s lifespan.
“While SMA can’t be cured, available treatments may slow down or stop the progression of the disease, prolonging a person’s life and improving its quality,” Dr Gulati says.
The US Food and Drug Administration has approved three treatments so far:
- The priciest treatment is called Zolgensma. It’s a special kind of therapy that costs about 175 million rupees for just one infusion. This therapy works by replacing the faulty SMN1 gene with a new and working one. In India, this treatment costs about 175 million rupees before taxes. The company that makes the drug, Novartis, didn’t provide a comment on its price.
- The Spinraza treatment is quite expensive. The first four doses cost about 50 million rupees. After that, each dose costs around 30 million rupees per year. And here’s the important part: you have to keep taking this treatment for your whole life.
- The least expensive option, Risdiplam, costs about 7.2 million rupees for a year’s worth of supply. It’s available in India and has been approved for use. Just like the others, you need to keep taking this treatment for your entire life.
None of these medicines are produced in India, and they are all protected by patents. This means there are no less expensive generic versions available. In simple terms, there are no cheaper alternatives for these medicines.
Some experts criticize pharmaceutical companies for charging too much for medicines for rare diseases. But others say the high prices help these companies cover the huge costs of research and development, and also support future research.
In India, most people get access to SMA drugs through special programs run by the drug companies. These programs offer free medicine to a limited number of patients, but it doesn’t always guarantee a lifelong supply. Some people may not qualify for these programs due to factors like age or other health issues. For example, Novartis, the company that makes Zolgensma, uses a lottery system to give the drug to children under two years old.
Advocacy groups believe there’s a chance to make Risdiplam more affordable in India. They’re asking the government to negotiate with the manufacturer to lower the price. They also want the 12% tax on the drug to be removed. They’ve talked to important government departments about these requests, but are still waiting for a response.
CureSMA India, a group led by parents, has also asked the Delhi high court for help. In July, the court told a special committee they created to deal with rare diseases to talk to manufacturers and see if they can get SMA medicines for lower prices.
Advocacy groups are looking at Brazil for inspiration. In December, the Brazilian government decided to cover the cost of Zolgensma for infants with the most severe form of SMA after many families fought and won court battles. Brazil made a private deal with Novartis to buy the drug at a lower price and pay for it over time.
However, this policy has put a lot of strain on Brazil’s already struggling public health system and used up a large portion of their resources.
Experts like Dr. Chandrakant Lahariya say India might face similar challenges. Governments have to consider what’s best for a large number of people, even if it’s a tough decision ethically and financially.
Alpana Sharma, from the advocacy group CureSMA India, mentions that some parents and patients may be able to gather enough money for SMA treatment, but not at the current high prices.
Meanwhile, the lack of access to these life-saving drugs is putting people’s lives on hold. Abhinand, a 35-year-old assistant professor in Chennai, was diagnosed with SMA when he was very young. He lost the ability to walk at 12 and his muscles have been getting weaker over time. He relies on a wheelchair and has difficulty breathing due to a condition called scoliosis.
The recent availability of new treatments has given him some hope after years of struggle. In 2021, he managed to raise enough money through crowdfunding to afford a year’s supply of Risdiplam – 30 bottles. A relative has agreed to help with the cost for the next year. But when his medicine runs out, Abhinand is unsure of what he’ll do because his health condition makes him ineligible for compassionate programs.
“I’ve been in a relationship with an amazing woman for the past seven years,” he says. “But I don’t have the heart to ask her to marry me unless I’m sure I’ll be able to get medication to survive. I just can’t do that to her.”