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NOT A CURE

India’s policy for rare diseases is no help to parents fighting for their children’s lives

A malnourished child waits for food at the Nutritional Rehabilitation Centre in Sheopur district in the central Indian state of Madhya Pradesh
REUTERS/Reinhard Krause
A malnourished child waits for food at the Nutritional Rehabilitation Centre in Sheopur district in the central Indian state of Madhya Pradesh April 6, 2010.…
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This story is part of Scroll’s Common Ground, their in-depth investigative reporting project. 

“Just one little flick of my finger—like this,” Prasanna Shirol said, with his finger on a fan switch. “And she will be gone. But why should we give up, when she hasn’t?”

Shirol’s daughter, Nidhi Shirol, has been in a coma for the last four years. A few days after Nidhi was born in 1999, her father noticed that her leg was slightly oddly shaped. But the elders in the family dismissed Shirol’s worries and said her bones would take their normal shape soon.

Then the real trouble started.

Every few weeks, Nidhi would get a terrible cold or pneumonia and need to be admitted to the Intensive Care Unit. As time passed, the parents noticed that Nidhi’s milestones were delayed. She never crawled, and at the age of two, when she had to get up from the floor, Nidhi would struggle, pressing down on her knees for support. “As old people do,” Shirol said, while we sat in his office in Bengaluru on an unusually warm December day.

By then, he said, he was convinced something was wrong.

The couple spent the next few years visiting over 40 hospitals across the country, trying to figure out what was wrong with their daughter. Whenever friends, relatives, and even strangers recommended a doctor, the Shirols would take off to meet them, no matter the distance or expense.

By this time, doctors had recognised that there was a problem with Nidhi. They said it could be a genetic disease, something rare—but what disease it was, nobody could tell.

Finally, Shirol heard of a doctor in Davengere who he was told might be able to help. However, the doctor did not show much interest in speaking with him. “He wasn’t keen on meeting me because parents often sought his help but never returned for follow-ups because the treatment was too intense, overwhelming, and needed complete dedication,” Shirol said. “That was something not all parents could afford.”

But after Shirol persuaded the doctor of his commitment, he sent a team to the family’s house to gather extensive information about Nidhi—her milestones, symptoms, physical struggles. Then her samples were sent to a laboratory in Delhi to determine the disease.

Finally, at the age of seven, Nidhi became the first registered patient with Pompe’s disease in India.

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Prassanna Shirol’s daughter Nidhi was diagnosed with Pompe’s disease at the age of seven.

Pompe’s disease is a rare genetic disorder in which the body is unable to break down glycogen, the form in which glucose is stored, leading to a buildup in certain organs and tissues, especially muscles, impairing their ability to function normally. It occurs in approximately one in every 40,000 births.

There is no cure.

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Shirol co-founded the Organisation for Rare Diseases in India, which regularly organises awareness events.

After a bout of pneumonia, for which she underwent prolonged hospitalisation, Nidhi lost her mobility. Gradually even breathing became a problem, and she needed a ventilator constantly.

Around 2007, the family learnt of an enzyme replacement therapy available for Pompe’s in the US. But the cost would go into crores.

Through his contacts, Shirol was able to get in touch with parent support groups in the Netherlands and eventually source the medication for free.

But even this was not a cure—Nidhi would have to take it throughout her life.

With this medication, Nidhi improved, finished school, and even went on to join college. She moved around on a wheelchair that was attached to a ventilator and an uninterrupted power supply device.

Then one day, when Nidhi was 18 and attending a college function, the UPS ran out of battery power. By the time she realised what had happened, and rushed to get it plugged in, the oxygen supply to her brain was cut off. She collapsed and has not woken up since.

“My wife takes care of her during the day and I stay up the night,” Shirol said.

Doctors have suggested cutting off ventilator support—but the family isn’t giving up hope. “From day one, we’ve been fighting. Why should we stop now?” Shirol said. “I’m already 50, so what if we have to do it another 20 years.”

Fighting every day for their children’s lives

Shirol represents a community of parents who have children with rare diseases, and who are fighting every day to keep them alive. The World Health Organisation defines a rare disease as a debilitating lifelong disease or disorder with a prevalence of one or less among every 1,000 people. There are over 7,000 rare diseases that have been recognised across the world and the list keeps growing.

But different countries use different base numbers to define rare diseases. Converting the figures to a base of 10,000, in the European Union, a rare disease is one that affects fewer than five in 10,000 people. In the US, it is a disease that affects fewer than 6.4 in 10,000 people. Japan, meanwhile, identifies rare diseases as those that affect fewer than 4 in 10,000 people.

India does not have a proper definition because the government doesn’t possess sufficient data on how many people suffer from different diseases that are considered rare across the world. In other countries, rare diseases have been known to affect between 6% and 8% of the population—therefore researchers in the past have estimated that more than 70 million people were living with a rare disease in India. Accordingly, the Organisation for Rare Diseases India, which Shirol co-founded in 2013, suggested that in India, a disease could be termed rare if one in 5,000 people had it. Globally, half the patients with rare diseases are children—three out of 10 of these children do not live to see their fifth birthday.

Eighty percent of the diseases are genetic, and according to Global Genes, a non-profit advocating for patients with rare diseases globally, in the US, 95% of the diseases do not have a single Food and Drug Administration-approved drug.

In some cases, medication helps improve the quality of life but in India, parents like Shirol, and patients, have to shell out lakhs and crores of rupees every year for them. In the last few years, it has become common to see several crowdfunding campaigns online seeking donations for patients with rare diseases—a recent one that gained significant attention was the request of 16 crore rupees ($2.14 million) for a one-time dose of a drug for a toddler with spinal muscular atrophy.

Parents and activists I spoke to said they have had to knock on the doors of several government officials requesting financial help to buy these life-saving drugs for their loved ones. Often, government officials were insensitive to their plight.

Shirol remembered one official saying: “Did I ask you to get married and have such a child? So why are you asking me for help?”

The campaign for a rare disease policy in India

Parent support groups, activists, doctors, and scientists have campaigned for years for a government policy on rare diseases in India. Quite often, parents and patients move courts to demand support from the government. In one such instance in March 2021, after hearing a batch of petitions concerning children with rare diseases, Justice Prathiba M Singh of the Delhi High Court directed the Centre to finalise the national policy for rare diseases in India.

The Ministry of Health and Family Welfare had formulated a National Policy for Treatment of Rare Diseases in 2017. But, as the government noted later in a revised policy document when the policy was shared with state governments, they raised questions on matters such as cost-effectiveness, the sharing of expenditure between the Centre and the state, and the freedom given to them to adapt the policy to their needs.

In response, the ministry constituted an expert committee in November 2018 to review the policy. While this process was underway, the government put the earlier policy on hold.

A new policy was formulated by January 2020, and placed in the public domain for suggestions. It was during this phase that Justice Singh ordered its finalisation.

On March 31, 2021, the government released its final policy (pdf). But the rare disease community did not celebrate the moment. “The National Policy for Rare Diseases, 2021, is a mockery of the right to health each person in India enjoys. The lack of foresight shines through the cold and thoughtless draft,” said Shirol in a statement after the policy came out.

The government had categorised rare disease patients into three groups. The first comprised those who would benefit from one-time curative treatment, for which costs were not typically prohibitive. The second comprised those who needed long-term or lifelong treatment that was relatively affordable. And the third comprised those who needed long-term or lifelong treatment for which costs often ran into astronomical figures—the document noted that the efficacy of long-term treatment in patients of this category was relatively uncertain. It stated that within this category, the government needed to make “optimal patient selection” given the high cost of treatment.

For the first category of patients, the Central government would cover treatment expenses of up to Rs20 lakh for patients who were in the bottom 40% of the economic pyramid—these funds would be provided from the Central government’s Rashtriya Arogya Nidhi and Pradhan Mantri Jan Arogya Yojana schemes. For the second group, the policy recommended that states “could consider supporting patients from this category,” since the interventions were relatively low cost.

What was available to the third category of patients left many members of the rare diseases community, as well as scientists, furious and heartbroken.

A national crowdfunding portal for costly care

In the policy, the government stated that because of “resource constraints” it had launched a digital crowdfunding platform, to help those with rare diseases, “especially those under Group 3.” Patients could register on the platform and receive donations for their treatment from the public.

“What they are essentially saying is that we should go and beg people for donations,” Shirol argued.

Crowdfunding was an option that families were already trying desperately—the government’s offer to do the same thing through its own portal did not bring any relief to patients and their loved ones.

In the six months since its launch, 209 patients have registered on the crowdfunding portal, of whom 50 have been categorised as being “in urgent need.” In all, they have raised a mere Rs71,864. The lowest amount a patient in the “urgent need” category has requested is Rs30 lakh, while the highest is Rs16.24 crore.

That is, the total amount raised on the platform in six months is 2.4% of the money required by the patient with the lowest target in this list.

Shilpi Bhattacharya, a professor of law, argued that most people with rare diseases belonged to the third category. Most of these diseases had no confirmed treatment, she argued, effectively rendering the government’s categorisation based on treatments patently irrational.

Shilpi Bhattacharya herself has a rare disease called GNE Myopathy. Her father Alok Bhattacharya, who heads the biology department at Ashoka University, along with others established “World Without GNE Myopathy,” a platform that is working towards raising awareness of the disease.

“Since 95% of rare diseases have no treatment, they do not fall within the ambit of the rare disease policy,” Shilpi Bhattacharya wrote in comments about the 2021 policy published by the platform. “This also raises the question of whether the policy’s definition and categorisation of rare diseases are inherently discriminatory.”

Seven-year-old Druthi P’s bright smile lights up one of the profile pages on the national rare disease crowdfunding website. Next to her name, the number 80,00,000 stares back.

Druthi suffers from a rare disease known as Mucopolysaccharidosis type I, in which the body lacks or does not have enough of an enzyme needed to break down long chains of sugar molecules. The accumulation of these molecules leads to cells malfunctioning. This can lead to skeletal problems, deformities of the bones and joints, and intellectual disability. It is rarer than Pompe’s—it occurs in one in every 100,000 births. The figure of Rs80 lakh is what her doctors have estimated her treatment will cost over the course of her life.

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“I’m not asking for any other benefits,” said Shalini S, whose daughter Druthi has Mucopolysaccharidosis type I. “Just give me the medication for free so my child can survive.”

Druthi’s mother, Shalini S, who is 27 years old, is from Koorgalli, a village in Mysore. She dropped out of college after her family got her married. She used to work at a multinational company in Mysore as a security guard and then as a receptionist in a hospital, and currently stays at home to take care of her daughter. Druthi’s father has worked as a driver for a hotel in the city.

Druthi’s condition was diagnosed at the age of three. Two years later, doctors told Shalini that her husband’s government insurance policy would cover the first phase of Druthi’s treatment, which would cost Rs10 lakh.

In this first phase, Druthi needed 40 rounds of medication—two vials every week in the first three months and then alternately three vials one week and two vials the next. Each round was six hours long.

As soon as she started the therapy, Shalini noticed improvements in Druthi’s health. But then the pandemic hit—covid-19 became the focus of the medical fraternity, and rare diseases, like all other illnesses, took a back seat. That year, Druthi only received 13 rounds.

“Every time I called to make an appointment they would say because of transportation trouble due to the lockdown they could not get the medicine that week,” Shalini said.

But that was not the only impact that the pandemic had on Shalini’s family—her husband also lost his job as a driver. This meant that they could no longer avail themselves of the insurance scheme. “In late 2020, Druthi suffered heart failure,” Shalini said, with a hint of a tear in her eye that she quickly blinked back.

Just as her family tried to prepare to bid her goodbye, Druthi started to recover. But her mobility was drastically reduced: she could barely walk anymore and breathing became a strenuous task. “Before that, she was doing everything very well. I would leave her at the anganwadi and she would manage on her own,” Shalini said, looking at Druthi, who giggled between taking heavy breaths while watching cartoons on television.

Vidya CA’s 11-year-old son Vineeth Dev also suffers from Mucopolysaccharidosis type 2. Vidya’s family resides in Bengaluru and is relatively well off compared to Shalini’s—she studied computer science engineering and has worked in the same field. But the cost of treatment was unmanageable even for her.

Speaking over a Zoom call in December, Vidya said she knew early on that something was not right about her baby. A little after Vineeth was born, Vidya’s husband was posted to Germany for two years. So 18-month-old Vineeth and Vidya moved to stay with him in Stuttgart city.

Unlike Nidhi Shirol, Vineeth did reach most of his early milestones on time. But even after he turned two, he hadn’t begun speaking. Then slowly his complexion changed, and his once silky hair turned coarse. He constantly suffered from bouts of cold, and his stool was unusually hard. She also noticed that one of his thumbs would tend to twist in an unusual way, even if she tried to set it right.

Worried, Vidya decided to return to India to find a doctor for her son. After several hospital visits and many tests, Vineeth’s condition was diagnosed.

Vidya was in shock but her mind raced ahead—what did she have to do to reverse this? What was the solution? To her horror, she was told that there was none.

But Vidya was also told that there was a way to improve his quality of life—enzyme replacement therapy. “This therapy would help break down the toxins in his body but it wouldn’t be able to reach all the parts of his body, especially the brain,” Vidya explained.

The next challenge for Vidya and her husband was to somehow be able to afford the medication—their insurance would not cover it. “My husband’s company gave us the initial amount needed for his first six months of medication”—a total of Rs64 lakh. “But they said they would not be able to continue providing the same amount the following years,” she added.

That did not stop Vidya—she was ready to pool in all their savings. But as Vineeth grew in size and weight, the quantity of medication he needed would also increase. The truth was, that at some point, they were going to run out. It was simply too much money.

“I really struggled,” Vidya said, tearing up.

Then she heard that the company that manufactured the medication was running an offer—they would provide select children with a free lifelong supply of the medicine. Vidya immediately applied, urging the company to consider their plea, especially because Vineeth had shown massive improvement with the first round of medications. The day the selected patient list was released, Vidya prayed desperately.

Vineeth’s name did not figure on the list. But Vidya did not lose hope—in the second list, his name appeared.

“I could not believe my eyes. I was ecstatic,” she said.

Vineeth is now assured access to the medication for the rest of his life.

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“Why would I spend one crore on one child, when I can help so many others with the same amount?” Vidya CS recounted being told by one official. Her son Vineeth has Mucopolysaccharidosis type I.

Vidya is relieved because she knew she couldn’t count on government help particularly given how insensitively officials had treated her requests. “Why would I spend one crore on one child, when I can help so many others with the same amount?” one told Vidya.

“For them, it is one child. But for us, our whole world is our child,” Vidya said. “If there is any option at all for their lives to improve, all parents will fight till the end to make that happen.”

Shalini, too, was met with insensitive remarks when she approached government officials for help, including suggestions that she consider “mercy killing”—but she has refused to give up the fight to keep her daughter alive and healthy.

When I arrived in Mysore to meet Shalini on New Year’s eve, she insisted on picking me up at the railway station, arguing that autos would rip me off. She was fast on her bike and skillfully skirted traffic, while also pointing out important buildings along the way to her house.

When we reached her house, her sister Soumya S explained that Shalini was always like this—constantly on her feet, hopping from her bike to the train to the bus to the auto, with Druthi in one hand and baggage in the other. Shalini referred to herself as a “single parent” because her husband is an alcoholic and does not help with Druthi at all.

Her family cannot understand why she is always running off to Bengaluru carrying Druthi in her arms, spending money she keeps borrowing and cannot repay. Sometimes, she cannot even afford the price of train tickets.

“She stuns me with her dedication,” Soumya said.

“Whatever option someone offers, I immediately say yes,” Shalini said. “Only later do I think about the money. Tomorrow if someone says there is a cure in some foreign country, I’ll pack my bags and get ready. After that, I’ll arrange the money somehow and be on the next flight out.”

But the young mother wants the government to step up. “I’m not asking for any other benefits,” she said. “Just give me the medication for free so my child can survive.”

The first challenge—getting a diagnosis

There are families that are even worse off than Shalini’s when it comes to dealing with rare diseases. While she had enough access to medical care to get a diagnosis for her daughter, many families, particularly from semi-urban and rural India, only have access to a general physician at the nearest government hospital, who typically would not have the expertise to diagnose rare diseases or recommend care paths.

This is one of the reasons the government’s classification of patients with rare diseases has left Shirol unsettled.

The first category of patients comprises those from poor backgrounds who need one-time treatment. Shirol felt that this classification betrays a misunderstanding of the time, energy, and money that goes into merely obtaining a diagnosis. It takes an average of seven years to diagnose a rare disease, he said, so most people who are economically vulnerable will never receive a diagnosis, let alone apply for the scheme.

He added, “It is especially difficult for daily wage earners—how can they leave their jobs and run after doctors?”

He also argued that the sum of Rs20 lakh that the government was offering was insufficient, especially in cases that needed organ transplants. “What about medications like immunosuppressants that they may need life-long?” he said.

Shirol and other members of the Organisation for Rare Diseases India criticised the second category on the grounds that it casts the entire burden of treatment on state governments. Although health is a state subject, they argue it would be more efficient for the Centre to come up with a comprehensive plan to address the problem of rare diseases. “Every state will have different numbers of patients, and sometimes they may be too few in the state. So the administration would not be able to set up a specialty just for a few patients,” Shirol said. The financial burden, too, should be shared between the Centre and the state, he added.

The third category of patients, meanwhile, had to make do with the government’s crowdfunding platform.

These failures were particularly disappointing given that this wasn’t the government’s first attempt at formulating measures to tackle rare diseases.

In 2019, the two-decade-old Rashtriya Arogya Nidhi scheme (pdf), which provides financial assistance for healthcare to families living below the poverty line, incorporated a list of 22 rare diseases within it, including glycogen storage disorders and tyrosinemia. Patients with these diseases could seek treatment at government hospitals and institutes with super-specialty facilities.

But a 2020 paper (pdf) pointed out these measures suffered from a lack of clarity on “implementation, fund allocation, and disbursement”.

It also criticised the measures for not focusing on improving diagnoses, especially of patients from “marginalised sections” of society. Further, it argued, the 2019 measures did not focus on “research efforts for finding cures for rare diseases in the country.”

The paper also pointed out that the committee that had been assigned to review the 2017 policy did not include any representatives from the academic community or patient groups.

Meanwhile, Alok Bhattacharya, one of the paper’s authors, described the 2021 policy as a “sham” in an interview with Scroll.in.

He pointed out that the 2017 policy had at least made mention of an amount of Rs100 crore, intended to fund treatment of those with rare diseases. “Even though it would not have sufficed, it was something,” said Alok Bhattacharya, who heads the biology department at Ashoka University, and is also Shilpi Bhattacharya’s father. “Now they’ve taken that off and suggested crowdfunding.”

He explained that the lack of measures to improve research from the policy was particularly disappointing. “We have to focus on research and development so that we can come up with long-term solutions,” Bhattacharya said.

Producing medications locally would be crucial to this, he said. “The government is not talking about financial investment, providing incentives to pharma companies to produce these medications or to waive taxes for private companies to do the manufacturing,” he added.

Abroad, he explained, in countries like the US, patient groups were able to generate millions of dollars, of which a huge chunk went into research. “The American government proactively handles the approvals, the Food and Drug Administration also goes out of its way to support research,” he said.

He argued that drug development needed to have regulatory support. “Developing gene therapy can also help cancer patients, so why not invest in technology-driven solutions?” he said. He also pointed out that pharmaceutical companies can make profits by selling medication to other countries. “It is up to the country to create awareness and encourage companies to manufacture medication,” he argued.

The paper pointed out the examples of middle-income countries like Taiwan, Philippines, and Brazil that had introduced legislation to facilitate the production of the drugs locally.

In India, however, many patients have to rely on the largesse of multinational companies. Anil Raina, the General Manager of Sanofi Genzyme, an American biotechnology company that develops medication for rare diseases, said scores of patients and parents write to his company every year seeking free medication because they are unable to afford it. In 1991, within a year of developing its first commercial product, it initiated a charitable access programme for those patients who are from countries where the government doesn’t provide the medication. Currently, 130 patients from India and 900 in other countries are enrolled in their programme, Raina said.

But it would be difficult, he argued, for pharmaceutical companies to absorb the entire cost of rare disease treatments because the cost of production of medicine itself is high. “If it is an illness that affects large populations, then pharma companies will know they will make a profit,” he said. “If there are less than a hundred and the cost of manufacturing is through the sky, how can they remain sustainable?”

When I asked him if he thought India would ever be able to afford free medication for its rare disease patients, he said, “Eighty to ninety countries have been able to do it, so it isn’t impossible.”

It isn’t only the medicines that place a huge financial burden on patients. Sirisha KV, who has Osteoporosis Imperfecta or Brittle Bone disease, explained that even her wheelchair cost Rs1 lakh. “At least for that, the government should pay,” she said, while we sat in her house in Bengaluru.

The outlook for adults with rare diseases

When Sirisha was born, in Andhra Pradesh’s Chittoor district, she wouldn’t stop crying. Her parents and doctors held her close trying to console her but she would only cry louder. This was because by handling her like any normal baby, unknowingly they were breaking her bones.

Doctors predicted that Sirisha would only survive until the age of 10. Today, she is 33, a working woman who lives in Bengaluru, away from her family, with the help of a caretaker.

“My parents were determined to educate me and make me independent. Despite society telling them that their efforts would be worthless, today I have made something of myself,” she said, with pride.

But Sirisha has to constantly battle complications. Her bent spine, for instance, often presses on her lungs, making it difficult for her to breathe. She also suffers fractures often, even if she is moved in a slightly “wrong” way, or when someone holds her a little too tightly while shifting her to her wheelchair. When this happens, doctors can do nothing about it because surgery would mean risking the fracture of more bones. The bones heal by themselves, often deformed.

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“I’ve noticed that may be the first time strangers stare weirdly, but with each passing day, they get accustomed to you,” said Sirisha KV, who has Osteoporosis Imperfecta, or Brittle Bone disease.

Sirisha has overcome many such odds—and yet there are some that she cannot. She felt that her disability held her back from moving further in her career because spaces are not always inclusive of people like her. For most employers, she explained, having people with disabilities in the workforce is thought of as such a major step that they don’t consider how they can enable the employees to further their careers.

While Sirisha has a career, Meryl Mammen has not even had a chance at one. When 32-year-old Mammen was in the sixth standard, her dance teacher complained to her parents that she would not get up from the floor as fast as the others. The following year, her karate teacher had the same complaint—she wasn’t fast enough.

But it was only when she was in Class 9 and started to struggle to climb up the staircase in her house, that she and her parents knew something was not right. The doctor visits began. In this case, too, she was told it was a rare, genetic disease but in order to determine what it was, they had to send her sample to a lab abroad.

When she finished college, her family sent her samples off for testing. That was when they learnt that she had Pompe’s disease.

Her life changed completely. With Pompe’s, the earlier a patient starts medication, the more chance they have of arresting the progress of the disease. Mammen slowly lost complete mobility and is now bound to a wheelchair.

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Meryl Mammen was diagnosed with Pompe’s disease while she was in college. “We spend lakhs of rupees for my therapy but I feel it is only helping me survive,” she said.

She has applied to several jobs over the years but nobody was then willing to offer her the work-from-home option that the world so quickly embraced after the covid-19 pandemic struck. Now her condition is too poor to allow her to take up any kind of work, even though she plays video games and draws when she has the energy to.

“We spend lakhs of rupees for my therapy but I feel it is only helping me survive,” Mammen said. “I’m unable to do anything else and feel like a burden on my parents.”

She added, “I wish a prenatal screening had been done when I was in my mother’s womb. Such screenings should take place more.”

The 2021 policy does, in fact, stress prenatal detection of rare diseases through methods such as testing placental samples.

But such tests are expensive and require high expertise since they also come with risks. “Right now there aren’t enough skilled professionals who can do these tests,” said Dr Sanjeeva GN, associate professor at Indira Gandhi Institute of Child Health in Bengaluru and nodal officer at its Centre for Excellence for Rare Diseases. “Things have improved over the last few years but you need experience and great skill to do these tests. The eye needs to be able to recognise anything that is even slightly out of the ordinary.”

But Sanjeeva believed that the 2021 policy was a step in the right direction. “Everything takes time. Even the HIV policy took so many years to take proper shape,” he said.

When I asked Alok Bhattacharya, however, if he thought that any amendments would be made to the policy, he said he thinks that the chapter has been closed. “They asked us for feedback when the first policy document was released, but none of our suggestions figured in the final policy. So I don’t think they will make any more amendments,” he said.

Stares and unkind remarks

Even if the policy, for now, may remain a closed chapter, members of the rare disease community feel that their daily lives could still improve slightly if people around them took some care to make the environment less hostile for patients.

“When I’m on the train, people just stare and ask me what is wrong with Druthi,” Shalini said. “Then they ask if I’m giving the child any treatment, I just say “yes” and ignore them.”

Even family members are often unkind. “My in-laws also keep passing snide comments and they haven’t visited Druthi in years,” she said.

Vidya, too, dealt with this kind of cruelty: we spoke on Zoom because she had relatives at home who would not be happy with her speaking out about her son’s condition.

Both the mothers mentioned how they have to think several times before deciding to take their children to family functions. “We need a separate place to just eat quietly but even that nobody offers us,” Vidya said.

Then come the comments, incessant queries, and stares. Vidya held her friends close but confessed that she had lost many over the years. The calls have reduced and many friends have stopped responding to calls or messages.

These patients and their families struggle with feelings of isolation. Any time they venture out of their homes, they are reminded that the spaces they’ve entered are not meant for them. “We don’t even have ramps. What more to expect?” Sirisha said. “But I believe that the more visible we make ourselves, the better for future generations.” Sirisha said that this was the one thing her father taught her while growing up. “I’ve noticed that may be the first time strangers stare weirdly, but with each passing day, they get accustomed to you,” she said.

But the lack of support does hurt. “I once invited a friend to come along with her children for a rare diseases awareness marathon, and she said she cannot because her children would be frightened by looking at the children with rare diseases,” Vidya said.

She wants her son to be in a “normal”  environment and play with children his age. “I understand if children don’t want to play with him, but I expect that their parents, who are usually standing right there, would encourage the children to play with him. But they just stand there or take them away,” she said. Of course, this doesn’t stop Vidya and Shalini from turning up at all the awareness rallies and marathons they can make time for.

Shirol’s Organisation for Rare Diseases India organises most of these awareness events. His phone number is also India’s first helpline number for people with rare diseases, and receives a steady stream of calls. Sometimes, patients call him, sometimes even doctors call, seeking his advice on how or where to direct the patients.

As we concluded our conversation, Shirol’s wife phoned: he had to take over his daughter’s care from his wife for the next few hours.

I thanked him for his help as we bid goodbye. Shirol smiled. “I’m only doing my job,” he said.

This piece was originally published on Scroll.in. We welcome your comments at ideas.india@qz.com.

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