Patients turn advocates for treatment of rare diseases
Since rare diseases, as the name implies, affect a tiny segment of people they often fail to receive adequate attention from clinicians, corporates and governments. Patients across India and their families are stepping up to the fight to secure their right to health and care, including funding for treatment and research for possible cures.
One recent study estimated that nearly 3,100 Indian children are born with spinal muscular atrophy every year and many eventually need to use a wheelchair.
Aarav is 10 years old. A bright child who lives in Mumbai, India’s largest city, he is interested in coding and has already made prototypes for several mobile apps. He laughs heartily, enjoys his favourite foods, and watches sports. But he also longs to play with his classmates and friends, something that he knows he can never do.
Aarav has a rare disorder called spinal muscular atrophy, a genetic neuromuscular disease that leads to loss of muscle control and movement. He uses a wheelchair and needs help for all tasks, including eating, combing his hair and writing. The disease has caused a curvature in his spine, a condition known as scoliosis, which has, in turn, weakened his lungs.
“Even the slightest lung infection is dangerous for him. A simple cold can lead to pneumonia and, in his condition, it can be fatal. He often needs to be hospitalised in such situations,” says Alpana Sharma, Aarav’s mother. Family members keep watch over him even during the night since he needs assistance to turn in bed.
There is no official data on the prevalence of spinal muscular atrophy in India. One recent study estimated that nearly 3,100 Indian children are born with the disease every year. Most die before being diagnosed.
“Aarav was 10 months old when we noticed his slow growth. He could not walk even after his first birthday. Fortunately, my brother-in-law is a paediatrician. He suggested getting Aarav tested for spinal muscular atrophy and it turned out to be positive,” Sharma says.
She is the president and co-founder of the CureSMA Foundation of India, a parent-led NGO working with patients, parents and families affected by the condition. Nearly 950 patients are registered across India, and the NGO also acts as a peer-counselling platform.
“These children need regular physiotherapy and hydrotherapy to strengthen muscles,” Sharma says. “Hydrotherapy is very useful as the body weight is low in water due to buoyancy and helps with exercises despite low muscle strength.”
But—and herein lies the problem—these therapies come at a high cost. “We have many parents in our organisation who cannot afford these therapies and the children suffer,” Sharma explains.
Like with other rare diseases, spinal muscular atrophy sees patients often struggling to access pharmaceutical treatments—not to mention the time taken to receive a diagnosis and the lack of awareness of rare diseases within medical circles and in broader society.
Patient groups are making inroads in areas like awareness generation and development of treatments, but to truly improve outcomes for these under-recognised and under-served populations, more needs to be done at the policy level.
High costs a barrier to care
There is currently no cure for spinal muscular atrophy. Treatments can halt or slow the progression of the disease, “but cannot reverse the damage already caused”, Sharma says. “By the time the kids are diagnosed, significant damage would have already been caused.”
It is only recently that a few treatments have come to the market, but they remain unaffordable in India and other low- and middle-income countries.
Due to the relatively small number of people diagnosed with conditions like spinal muscular atrophy, profit-oriented business models have largely shied away from promoting scientific research in the field. It is only recently that a few treatments have come to the market, but they remain unaffordable in India and other low- and middle-income countries (LMICs).
In 2016, US-based company Biogen introduced a drug called Spinraza—the first ever treatment for spinal muscular atrophy. Each injection costs nearly 10 million INR (US$125,000), while the whole treatment costs US$750,000 in the first year and US$375,000 in subsequent years. This puts it beyond the means of even higher-income groups in India, leave alone those earning lower incomes who cannot even afford regular physiotherapy.
Two other treatments—a type of gene therapy called Zolgensma by Swiss pharmaceutical company Novartis; and an oral medication called Risdiplam by Roche—cost 140 million INR (US$1.7 million) and 7.5 million INR (US$91,000) per year respectively. They remain out of reach for most people in a country where per capita income is 180,000 INR (US$2,257).
“The companies claim that the cost of these treatments is high because of the smaller market size. But they get a lot of incentives and benefits for producing these drugs. The problem is these benefits do not reflect in the pricing of the medicines,” says Chetali Rao, a consultant with the Third World Network, an international NGO working on intellectual property and patients’ right to access affordable medicines.
When there is no available treatment
Problems in accessing treatments and therapies for rare diseases like spinal muscular atrophy stem in part from the absence of a universal definition. The US defines a disease as rare if it affects fewer than 200,000 people in the country—or, approximately, six in 10,000 people, while the figure is one in 2,000 in the European Union. India’s 2021 National Policy for Rare Diseases does not define rare diseases and captures only around 50 diseases, as against the nearly 5,500 rare diseases classified by the World Health Organization (WHO).
"We cannot just go to a hospital and expect treatment. We have to look up the science ourselves, understand the root cause and find solutions."
“It has been turned into a chicken-and-egg situation. Lack of data is preventing the entry of many diseases in [to the national policy]; but without an exhaustive list of diseases, how will we collect data?” says Shilpi Bhattacharya, a 40-year-old with GNE Myopathy, a rare genetic disorder causing progressive muscle weakness, which is not mentioned in the Indian policy.
Spinal muscular atrophy has gained some attention over the years because of new treatments and advocacy by patient groups. On the other hand, people with diseases like GNE Myopathy—for which there is no cure or treatment that can reverse or delay progression—and their families have had to scout for research diagnostics and possible treatments on their own. As the disease is even rarer than spinal muscular atrophy, there is much less incentive for private companies to invest in research and development of drugs and diagnostics.
What makes matters worse is the government’s apathy, says Bhattacharya, who founded World Without GNE Myopathy (WWGM), an NGO working to accelerate scientific research towards finding a cure for the disease. “Patients and their families have been left on their own to fight,” she says. “We cannot just go to a hospital and expect treatment. We have to look up the science ourselves, understand the root cause and find solutions.”
With rare diseases, even receiving a diagnosis can be a long-drawn process. GNE Myopathy is an adult-onset disease. Bhattacharya started noticing a change in her gait in her early 20s while studying in the US. When she returned home to Delhi for a few months before moving to Singapore for a new job, her mother noticed a significant slowdown in her walking and insisted on tests.
“It took two years to get a correct diagnosis. Initially, doctors were not aware of this disease and, later, the lack of diagnostics to establish this disorder meant more delays,” says Bhattacharya. And, she says, a diagnosis was only possible because she was living in Singapore, which has higher-quality health infrastructure. Plus, her company provided health insurance coverage.
“It would have been impossible without that support,” says Bhattacharya. “In India, insurance companies don’t cover rare diseases. They don’t even cover other diseases for those with rare diseases.”
Parents are advocating for better treatment of rare diseases so their children can live without disability.
Seeking a grassroots solution
Shilpi Bhattacharya’s parents, Sudha and Alok Bhattacharya, are reputed scientists in India. After learning about their daughter’s condition, they began researching GNE Myopathy and talking to the scientific community. Meanwhile, Bhattacharya founded WWGM and started collaborating with other patients. “I wanted a community that could understand what I was going through,” she says.
"We are working for a cure instead of a treatment, so that our children can lead life without any disability."
Slowly, the efforts culminated in an initiative called ‘Myo-Mission’, which is focused on developing an affordable cure for GNE Myopathy and similar diseases. It brings together people across all aspects of drug development, including clinicians, scientists from institutions across India, and patient groups. Government agencies are being approached for funding, and the organisation is also raising money independently.
“We are aiming to develop a platform technology that can cure many types of rare diseases, not just GNE Myopathy,” says Sudha Bhattacharya, a molecular biologist. She says the gene therapy technology already exists and many generic drug companies in India have the capacity to implement it.
However, despite having science on its side, Myo-Mission has encountered roadblocks at a policy level. “We submitted our proposal to the Department of Biotechnology… But it has been two years and no decision has been made so far,” says Alok Bhattacharya, a biologist. Government support is crucial not only financially, but also to advance the regulatory work needed after the development of a drug.
“As parents, it is painful to see our daughter’s deteriorating condition, and as scientists we are doing what we can,” says Alok Bhattacharya. “We are working for a cure instead of a treatment, so that our children can lead life without any disability.”
How high-level intervention can make a difference
Unlike people with more common and well-researched diseases who can approach hospitals for support, patients of rare diseases encounter obstacles at every level, including lack of knowledge among health workers and difficulties with diagnosis, treatments, and other supportive care. Rao from Third World Network says the burden should not fall solely on patient groups as the government is obliged to offer care for rare diseases.
“Every life is important and various Supreme Court judgements [in India] have interpreted right to health as an extension of right to life under Article 21. Denying access will jeopardise their right under Article 21 and hence government should ensure treatment for these patients,” Rao says.
In the case of treatment for spinal muscular atrophy, she says the Indian government can intervene, or a generic company could apply for a compulsory licence for Risdiplam, which would allow generic manufacture of the drug. This would “bring the price down significantly”.
An analysis by US-based not-for-profit Knowledge Ecology International shows that the cost of the main ingredient can be reduced to less than 1% of manufacturer Roche’s price—a potential gamechanger for spinal muscular atrophy patients in LMICs.
To further reduce the cost, patient groups are demanding a waiver of tax on Risdiplam. In a letter to India’s Finance Minister Nirmala Sitharaman, the CureSMA Foundation of India wrote: “We are constantly reaching out to Ministry of Health to make this [Risdiplam] affordable to all patients and parents; however, it appears this will take time. In the meantime, we request you to please exempt the [tax] on this medicine all over India so that at least parents get some relief while purchasing.”
Dr Sheffali Gulati is a professor and faculty-in-charge at the Child Neurology Division of the Department of Paediatrics at the All India Institute of Medical Sciences in Delhi. She has been treating patients with spinal muscular atrophy and Duchenne muscular dystrophy (DMD), a form of muscular dystrophy, for 26 years and has been working on advocacy for funding the treatment of rare diseases.
“The science for treatments exists,” she says. “However, big pharmaceutical companies don’t invest much in this field due to the small market.” In response, she says, the Indian Council of Medical Research has put out a call for proposals for new therapeutics for inherited rare diseases.
Bhattacharya says government investment has the potential to help patients of rare diseases locally and in other LMICs because India is “the pharmacy of the world”. “Our research shows that we have the ability to develop and manufacture drugs for many rare diseases,” she says. “The Indian government and companies should make use of it.”
As many patients face various disabilities, providing therapies is also crucial, but support at a government level is lacking. Indeed, the National Policy for Rare Diseases merely mentions rehabilitation without detailing a pathway that improves outcomes.
“Physiotherapy is costly,” Bhattacharya says. “What’s worse is that most physiotherapists do not know how to deal with our conditions. Their training is to strengthen muscles, but in our case, it is about managing with a deteriorating muscle control. The government should ensure that physiotherapists are trained in rare diseases and provide those services at government facilities.”
The government could also intervene to bring down the prices of assistive technologies. And, says Sharma from the CureSMA Foundation of India, “it is important to put spinal muscular atrophy on the newborn screening list because early detection can help reduce the severity of the disease”.
Ultimately, she says, greater focus and political will can uphold “the right to health and quality of life” for children like Aarav. “Immediate government intervention is required to save lives.”