Shashank Tyagi, a 27-year-old Delhi-based businessman, was diagnosed with Gaucher’s disease when he was five. “I still remember I used to vomit after every small meal as food wasn't able to digest and fit into my stomach,” he says, recalling the frequent fatigue and pain.

Gaucher’s is one of 50 rare genetic disorders collectively known as Lysosome Storage Diseases (LSD). Lysosomes are the recycling centres within our cells where enzymes break down unwanted substances. People with LSDs are born deficient in these enzymes, resulting in the collection of unwanted substances in the body, causing extensive damage and, if untreated, death.

For years, Tyagi’s parents took him to hospitals around Delhi, to no avail. Then, in 2004, when Tyagi was 14, the All India Institute for Medical Sciences in Delhi sent his blood sample for testing to Manchester, UK. This test established the Gaucher’s diagnosis, although the delay had allowed the disease to progress and cause a minor curvature of the spine. Tyagi was able to start a treatment protocol called enzyme replacement therapy (ERT), with which his disease is under control and he lives a normal life.

There are more than 70 million Indians who suffer from rare diseases such as Tyagi’s. Rare diseases are those that affect a very small percentage of people. Worldwide, 5,000-7,000 rare diseases are thought to exist, and 250 new diseases are described every year.

The World Health Organization (WHO) considers a disease rare if it affects fewer than 6•5-10 persons per 10,000. Developed countries have defined their own thresholds in the context of their respective population sizes--in the USA, it is 7.5 people in 10,000; in Australia, 1; and in Japan, 4.

Source: National Center for Biotechnology Information

India has no standard definition for rare diseases as there is no comprehensive epidemiological data available, but 2000 estimate put the number at 70 million.

Source: Organization for Rare Diseases India

Despite this large number, there has been very little effort to address the healthcare and other needs of people with rare diseases. Support groups founded by families--since rare diseases are often genetic--have been advocating for government policies and support for nearly two decades.

In May this year, the central government finalized a rare disease policy, the first major step in recognizing the need for a comprehensive strategy in this regard. The policy recommends genetic counseling as well as pre-conception and ante-natal screening to enable parents to decide whether to give birth to children with genetic disorders. It has also set aside a fund for diagnosis and treatment of rare diseases.

However, medical experts say India also needs an orphan drug policy to provide incentives to pharmaceutical companies to innovate, manufacture drugs for rare diseases, and sell them at reasonable prices.

Early diagnosis crucial

“There is very little awareness of rare diseases in India,” says Prasanna Kumar Shirol, co-founder of Bangalore-based Organisation for Rare Diseases in India (ORDI), a patient support and advocacy group. “Right from clinical diagnosis, counselling, guidance for treatment and management--each step is crucial.”

Eighty percent of rare diseases are genetic and 50% of these affect children; 35% of deaths in patients with rare diseases occur in infants younger than one year, a 2012 study in the journal Intractable and Rare Diseases Research, notes.

Early diagnosis is crucial, but due to lack of awareness among patients as well as doctors, diagnosis is often delayed. Shirol says on average, it takes seven years to diagnose a rare disease after the onset of symptoms. The diagnostic process is tedious and requires high-end technology, making it expensive. Genetic testing technology, for instance, can cost between Rs 15,000 and 1 lakh. Rs 15,000 is more than the monthly minimum wage for a blue-collar worker in India.

“Parents go through a lot of trauma not knowing what is the problem. Some families get diagnosed only after the second or third child shows the symptoms of the genetic disease,” Shirol says, adding that by then, the burden on the family is huge.

Shirol is advocating for screening of newborns to be made mandatory. “In certain diseases such as Phenylketonuria, if diagnosis and care is not done within 72 hours, it can lead to mental retardation,” he says.

ORDI’s national helpline for rare diseases, India’s first, receives 3-4 new enquiries every day. In collaboration with the Bengaluru-based Indira Gandhi Centre for Child Health and the Centre for Human Genetics, ORDI has also set up a Centre of Excellence for Rare Diseases in the city. In the last six years, the centre has provided free clinical diagnosis, genetic counselling, prenatal care, treatment as well as daycare facilities to 15,000 families.

Patient assistance programmes

Of the 7,000-odd rare diseases, only 500 have US FDA-approved drugs, says Shirol. The remaining have to be managed by physiotherapy, surgical intervention, or occupational therapy.

Several multinational companies offer treatment protocols in India but the cost is prohibitive--for ERT, for instance, the cost ranges from Rs 50 lakh to 1.5 crore annually, depending on the patient’s body weight. The drug has to be given intravenously every two weeks, and the treatment continues lifelong.

A few pharmaceutical companies such as the US-headquartered Sanofi Genzyme and Ireland-based Shire offer charitable programmes, thanks to the efforts of ORDI and Delhi-based Lysosome Storage Disorder Support Society (LSDSS ), another NGO founded by parents of patients with LSD.

Tyagi has been among the beneficiaries. His treatment would otherwise cost Rs 1.5 crore annually; compare that with the average annual per capita income in India of just over Rs 1 lakh. “ERT saved my life,” he says, “But I want direct help from government as my future is at stake. The pharma company can stop the charity programme anytime.”

Expenses just one of many challenges

Sirisha K.V., a 29-year-old quality analysis professional, was diagnosed with osteogenesis imperfecta (brittle-bone disorder) the day she was born. Her father suspected that something was wrong when she did not stop crying for hours, and a thorough check-up revealed multiple fractures caused by improper handling at birth. This remained a frequent occurrence all through her growing years in Chittoor, Andhra Pradesh.

Sitting on a wheelchair in a ladies’ paying guest accommodation at Nagawara, Bengaluru, Sirisha recounts her painful childhood: “I had multiple fractures every week. Doctors had no clue how to manage the disease, so they prescribed sleeping pills for me till the age of seven.” Due to frequent fractures, some of her bones are still not attached properly and her limbs are deformed.

There is no treatment for osteogenesis imperfecta; the only solution is extreme care. Sirisha spent most of her childhood visiting hospitals. Chittoor is not wheelchair-friendly, so she had to be carried everywhere.

Due to her fragile condition, Sirisha did not have access to mainstream schooling and was homeschooled by a tutor. She completed college, and, wanting to be independent, came to Bengaluru in 2013 to look for a job. Now employed with ANZ (Australia and New Zealand Bank), she lives with a caretaker in a tiny 80 square feet room.

“I need a caretaker for managing even basic things like dressing. I can only travel by cab, I cannot travel by bus or train as I have to be very careful,” she says. Her condition also needs to be monitored regularly to control progression of the disease, and all of this costs money.

Her request for financial assistance from the Andhra Pradesh government did not come through. “Government should provide health insurance for rare diseases,” she says.

Rare disease policy

In May this year, the central government approved the country’s first National Policy for Treatment of Rare Diseases.

Since 80% of rare diseases are genetic, and 50% of new cases are diagnosed in children, the policy recommends genetic counselling as well as pre-conception and ante-natal screening where needed, to enable parents to decide whether terminate the pregnancy if the child is likely to bear a genetic disorder.

Noting India’s deficit of medical and scientific knowledge, as well as the difficulty of collecting epidemiological data, the policy stops short of defining rare diseases due to the lack of data on burden, morbidity and mortality. It does set this as a long-term aim though.

As an immediate measure, the policy has instituted a Rs 100 crore fund for diagnosis and treatment of rare diseases. A web-based application process will be created, and long-term plans include creating a patient registry and collecting epidemiological data. It recommends that state governments create a similar corpus, and share allocations with the central government in a 40:60 ratio.

The policy also aims to encourage manufacture of orphan drugs.

The final policy document has not been made public yet, although various stakeholders have a copy of the final draft.

The money from the fund has not yet been released, says Manjit Singh, president of Delhi-based Lysosome Storage Disorder Support Society (LSDSS), which fought a court case that led to the framing of the policy. “Even Rs 100 crore is nothing,” he says, citing the large numbers of patients, and the high cost of treatment.

LSDSS alone has about 800 patients registered, of which only 170 are getting free treatment. “Government should install a committee of medical experts [working in the field of rare diseases]. The committee should collate data, create unique ID for patients and start treatment on merit, without delay,” Singh suggests, adding that the government should also start thinking about strategies to prevent rare diseases.

Going a step beyond the policy, he is working with the central government to make prenatal genetic testing for rare diseases compulsory between the 11th and 13th weeks of pregnancy.

"This is the first time government is thinking of a rare disease policy, so that is good,” says Alok Bhattacharya, founder of GNE Myopathy International, an NGO for GNE Myopathy, another form of muscular dystrophy, “But a main point it misses is -- developing a cure for rare diseases." He says the government must think long term to encourage and develop legislation for gene therapy and other treatments.

Many experts emphasize the need for a dedicated orphan drugs policy.

Orphan drugs policy

Due to the rare incidence of these diseases, drug-makers find innovation and development of drugs for them unprofitable. This holds true worldwide, but more so in India where healthcare and medical research budgets are very small, and the lion’s share goes towards more common diseases such as HIV and tuberculosis.

“Most of the innovative medicines emerge from the western world but that has proven to be very expensive and inefficient,” Rajasimha says. “There are a lot of ways we can innovate in India.” He suggests that the government start investing in basic research on rare diseases.

The policy should also address the issue of data sharing, and contain guidelines for best practice development for clinical trials of rare diseases, suggests Harsha Rajasimha, co-founder of ORDI. “[F]or short term, we should look at ways of engaging patients in India with global clinical trials. This is so critical because if the medicines are only tested on western population, the medicines may show less efficacy or adverse effects on Indian patients due to their genetic background,” he said.

Private, non-profit efforts

DART, a Bengaluru-based NGO dedicated to the support of patients with muscular dystrophy, is developing a customized genetic treatment for 29 patients who suffer from Duchenne muscular dystrophy (DMD), a rare genetic disease that affects one in 3,500 young boys. The disease is caused by a mutation that can vary from person to person. “It’s been a long journey from conceiving the idea, getting the right scientists, getting the technology and knowhow from people abroad who have been researching this for 10-15 years,” says R.S. Anand, founder and president of DART, whose son has DMD.

Aten Biopharmaceuticals in Bengaluru is one of few companies working to develop drugs for rare diseases in India. The company started in 2013, and has received some funding from the central Department of Biotechnology. “Risky ventures don’t get investors. But we got into this because there is a huge opportunity. No one else is looking at this field,” Kulkarni said, adding, “For pharmaceutical companies to innovate drugs for a small market in a feasible and profitable way, government support is needed.”

Another quick and cost-effective option is for Indian companies to develop biosimilars of existing drugs. “ERTs can be easily manufactured here,” says Vijay Chandru, co-founder and chairman of Bengaluru-based precision diagnostics company Strand Life Sciences. Chandru is spearheading a consortium of doctors, researchers and biotech companies that has drafted a Rare Disease and Orphan Drug Policy for the state of Karnataka.

The document is now with the state health secretary for consideration. It suggests a framework on the lines of the USA’s Orphan Drug Act (ODA), which would provide for federal grants for research, tax credits for clinical trials and seven years’ exclusive marketing for orphan drugs.

Chandru adds that innovator pharmaceutical companies should work out licensing agreements with Indian manufacturers. He adds that the Bengaluru-based Association of Biotech led Enterprises (ABLE) has suggested that the government should procure orphan drugs to encourage development of biosimilars.

As patients and support groups wait for more support from the government and initiatives from the private sector, each day remains a struggle. “Six children with lysosomal disease died last year due to non-availability of drugs,” says Shashank Dalvi, a volunteer with LSDSS.

IndiaSpend Solutions

For patients:

  • The government should include free diagnostics, awareness and outreach programmes, as well as subsidised schooling in a rare diseases policy: R.S. Anand, founder of DART.
  • Prenatal testing in early pregnancy should be mandatory: Manjit Singh, president of LSDSS.
  • There should be mandatory newborn screening for early diagnosis and intervention; special centres for diagnosis, treatment and counseling should be set up: Prasanna Shirol, co-founder of ORDI.
  • The government should provide health insurance and genetic counselling for families with rare diseases: Sirisha P.V., patient with osteogenesis imperfecta.

For drug development:

  • The government should invest in basic research on rare diseases; health data should be digitised and epidemiological studies aggregated; a government policy should guide data sharing and best practices development for clinical trials of rare diseases: Harsha Rajasimha, co-founder of ORDI.
  • The government should formulate an orphan drug policy and offer special incentives to companies to develop drugs for rare diseases: Prasanna Shirol, co-founder of ORDI.

(Padmanaban is a Bangalore-based journalist who reports on environment and energy.)

We welcome feedback. Please write to We reserve the right to edit responses for language and grammar.