In a swanky complex in Gurgaon, Tanav Handoo fiddled with his wheelchair’s control buttons and spun in a full circle, looking both startled and amazed as the door to his apartment opened. He maneuvered his wheelchair with practiced ease, effortlessly controlling his movements.

“Go slow!” his parents reminded him. 

Full of energy and chatter, he grinned and asked, “when is my interview happening?” eyeing the camera and other equipment.
When he is assured that it will happen soon, the ten-year-old wheeled himself toward his computer without missing a beat, and dived back into Roblox, his favorite game.

Tanav was in the second grade at school and everything seemed fine until his parents observed his running patterns. “He ran in a zig-zag manner and also struggled to get up, often stressing on his knees with his hands, making it look like he could not take his own weight,” said Tanav’s father Amit Handoo. This was even when he was lean and weighed as much as a child in that age should, he explained.

After multiple consultations with doctors, Tanav was diagnosed with a “rare” genetic disorder that causes progressive muscle weakness called Duchenne Muscular Dystrophy (DMD) at the age of six; almost 12 weeks after his parents first noticed his symptoms. DMD is a disease that requires long-term treatment that is both expensive and lacking sufficient data on its efficacy, according to the Indian government’s classification.

“It was 31st December when the doctor called and said that he wanted to immediately meet us in person,” recalled Pooja Handoo, Tanav’s mother. “I remember crying for hours after the doctor told us about this condition.”

Now, four years later, his condition has limited his physical abilities. He has gradually lost his ability to stand, run, crawl, lift and write, and now requires a wheelchair to move around- but his spirit is far from dampened.

Tanav is one of the estimated 7 plus crore people living with rare diseases and disorders in India. Rare diseases, often referred to as ‘orphan diseases’ for the lack of research and resources available to treat these illnesses, are those conditions that affect one or fewer persons per 2,000 people in WHO defined regions, according to the World Health Organization. Many of these rare diseases can be chronic, debilitating and even life threatening. Those with DMD, like Tanav, rarely survive over the age of 15 years.

Owing to rarity and the resulting lack of awareness, diagnosing these diseases remains a challenge. Shortage of specialized doctors, limited testing facilities, and scarce and expensive treatment options, all compound the challenges associated with rare diseases, forcing people to race against a ticking timer, according to research.

India’s rare disease burden

In March 2021, the central government launched the National Policy for Rare Diseases (NPRD), categorizing rare diseases into three groups: those requiring a one-time treatment; those needing long-term treatment with proven effectiveness and relatively low costs; and those demanding long-term treatment that is both expensive and lacking sufficient data on its efficacy.
DMD is part of the third group, as per the NPRD, which lists a total of 63 rare diseases.

India lacks comprehensive data on the prevalence of rare diseases, with most diagnosed cases emerging from tertiary hospitals, the NPRD document notes. It also says that the absence of epidemiological data hinders a clear understanding of the disease burden, making it difficult to define rare diseases, estimate patient numbers, or assess their morbidity and mortality.

“In such a scenario, the economic burden of most rare diseases is unknown and cannot be adequately estimated from the existing data sets,” the policy document says.

On November 29, 2024, in response to a Lok Sabha question, Minister of State for Health and Family Welfare, Prataprao Jadhav, stated that according to data from the National Registry for Rare Diseases and Other Inherited Disorders (NRROID) maintained by the Indian Council of Medical Research (ICMR), 7,414 patients in India have been identified with rare diseases. He also reported that since the launch of the National Policy for Rare Diseases, 876 patients have received treatment.

“But all this is gravely insufficient,” said Dr Rakesh Kumar Jain, Paediatric Neurologist at Fortis Hospital, Gurugram, who also treated Tanav, before the family decided to consult another team of doctors at Baptist Hospital in Bangalore. He explained that owing to our country’s size and demographics, India might be facing a burden of rare diseases that is much heavier than we know.

The National Policy for Treatment of Rare Diseases in India (NPTRD) says, “If we apply the international estimate of 6% to 8% of population being affected by rare diseases, to India, we have between 72 to 96 million people are affected by rare diseases in the country, which is a significant number.”

So far, only about 450 rare diseases have been documented in India, primarily through tertiary care hospitals, as per the NPTRD report. Apart from muscular dystrophies, common rare diseases include Haemophilia, Pompe disease, Sickle Cell Anaemia, and Gaucher’s disease.

“Global studies estimate that DMD affects approximately 1 in every 3,500 male births worldwide, when you look at India's population and do the math, you realize that DMD isn’t as rare as it seems” Dr Jain said.

‘What about my son’s right to live?’ Accessing treatment for rare diseases in India

Dr Jain explained that Duchenne muscular dystrophy (DMD) is marked by progressive muscle weakness and atrophy, starting in the pelvic region before affecting the shoulders. As the disease advances, it spreads to the trunk and forearms, gradually weakening more muscles throughout the body. Most patients also develop visibly enlarged calf muscles.

Over time, mobility declines, and by their teenage years, most individuals with DMD require a wheelchair. The condition can lead to severe, life-threatening complications, including cardiomyopathy (heart muscle disease) and respiratory difficulties.

Treatment options are scarce, and prohibitively expensive, costing ₹2-3 crore per child annually. In March 2022, IIT Jodhpur, in collaboration with Dystrophy Annihilation Research Trust (DART) and AIIMS Jodhpur, established a research center to create cost-effective therapeutic solutions, but this appears to be still in the pipeline.

This is not to mention the lakhs families have to spend on different types of wheelchairs and have remodeled their home to accommodate their child’s needs. “We’ve lost track of how much we’ve spent. Just the basics—like daily physiotherapy, which costs ₹1,000—have been ongoing for the past four years,” explained his mother, Pooja.

“And that’s not all,” she continued. “There are regular check-ups with cardiologists, neurologists, orthopedists, and the cost of expensive medications, including steroids. It never ends.”

Even if you are able to spend, even these highly expensive treatments are not definitively curative either. While advances in cardiac and respiratory care have extended life expectancy, there is still no cure. Researchers are focusing on Antisense Oligonucleotide (AON)-based therapies to modify faulty gene sequences, with clinical trials approved by the Drugs Controller General of India (DCGI). Efforts are also underway to develop a generic utrophin modulator, with animal model validation set to begin soon.

Pfizer, a multinational pharmaceutical and biotechnology company, faced a setback in its gene therapy trial for DMD after a young patient died of cardiac arrest, news agency Reuters reported in May 2024.

Amit Handoo, Tanav’s father, said they have explored every possible treatment—consulting allopathic, ayurvedic, and homeopathic doctors—but nothing worked. In some cases, things even got worse.

“We have done everything possible for our son, but India still offers no treatment for his condition,” added Pooja.

“What about my son’s right to live?” she asked.

How has the National Policy for Rare Diseases helped?

The National Policy for Rare Diseases (NPRD), introduced in 2021, aimed to address some of these challenges, by providing financial assistance, improving diagnosis, and facilitating treatment for those affected. However, experts say that gaps in implementation continue to leave many patients struggling.

Financial aid of up to Rs 50 lakh was made available for certain conditions under the policy, but this falls significantly short, according to Prasanna Shirol, Co founder & Executive Director of ORDI (Organization for Rare Diseases India), an Umbrella organization that represents 7000+ diseases in India.

“The cost of treating diseases like Spinal Muscular Atrophy or Duchenne Muscular Dystrophy runs into crores. Rs 50 lakh is just a fraction of what’s required, leaving families to fundraise or take on crushing debt,” said Shirol, whose daughter Nidhi was India’s first patient of Pompe, a rare genetic disorder that causes progressive muscle weakness and heart problems. Nidhi lost her life in 2023, at the age of 24.

However, to bridge financial gaps, the government has introduced crowdfunding via a digital portal and exempted rare disease drugs from customs duties. In December 2024, the Delhi High Court also directed the Union of India to establish the National Fund for Rare Diseases (NFRD) with an allocation of ₹974 crore for the financial years 2024–25 and 2025–26.

First Check wrote to Dr Rajiv Bahl, Director General, Indian Council of Medical Research (ICMR), and Dr Nikhil Tandon, Professor and Head of the Department of Endocrinology and Metabolism at the All India Institute of Medical Sciences (AIIMS), both of whom are Chairperson and member of a five-member National Rare Disease Committee (NRDC) formed by the Delhi High Court in 2023, for responses. We will update the story when we receive a response.

'Surviving DMD is like running a race against time'

“It feels like we are running a race against time,” Pooja said.

Tanav and his family—his parents and an older 16 year old brother—are all working against the clock to make sure he gets to see his 16th birthday. Pooja Handoo, Tanav’s mother, said that children with DMD rarely survive beyond their teenage years. “Very few make it past 15,” she explained.

She recalled how initially when an “insensitive” doctor told them, “Bas sewa karo jab tak hai —[just take care of him while you can]”

Another doctor had once told them, “Every year after 14 is a bonus.” She wiped away her tears as she recalled those words.

The family has left no stone unturned—they have met doctors, scientists at Indian Council of Medical Research (ICMR), connected with other parents of DMD children, organized protests, and even filed a court petition. “But nothing seems to make a difference,” Amit said.

Shirol from ORDI stresses the need for a stronger framework, urging collaboration between the government and pharmaceutical companies. “We need indigenous drug development, price regulation, and a sustainable model for treatment access,” he said.

Also read: Rare Disease Day: High costs of treatment, difficulty in diagnosing remain a challenge