Nidhi was seven years old when she was diagnosed with a disease few have heard of — Pompe. Her parents had noticed that there was a problem when she was just one, but it took an excruciating journey of seven years and 40 hospitals before she could finally be diagnosed. Nidhi is said to be among the first cases of Pompe to be diagnosed in India.
Despite suffering from this metabolic disorder that damages muscle and nerve cells, Nidhi was able to finish regular schooling.
It was while she was in the first year of college that one of her two ventilators crashed. Now 20 years old, Nidhi is in a semi-comatose state. As tragic as this sounds, Nidhi has been more fortunate than some others — she was diagnosed with a rare or ‘orphan’ disease, and was able to receive treatment for it.
India’s National Policy for Treatment of Rare Diseases, brought out in 2017, estimates that globally, there were around 6,000 to 8,000 rare diseases, with 450 of these recorded in India, affecting 72 to 96 million Indians.
Rare challenge
The most common rare diseases listed are haemophilia, thalassemia, sickle cell anaemia and primary immunodeficiencies, auto-immune diseases, lysosomal storage disorders such as Pompe disease, Hirschsprung’s disease, Gaucher’s disease, cystic fibrosis, haemangiomas and certain forms of muscular dystrophy.
Nidhi’s father, Prasanna Kumar B. Shirol, is co-founder of the Organisation for Rare Diseases India, an umbrella organisation that says it represents the collective voice of all patients with rare diseases in India. According to Shirol, while 80% of the diseases are of genetic origin, 50% of new cases occur in children, and 35% of deaths occur before the age of one. “The average diagnosis period worldwide is seven years, even in the U.S., and FDA-approved drugs exist for just over 500 of these diseases.”
The main challenges that patients and caregivers face include a lack of awareness among the medical fraternity and a lack of dedicated healthcare policies, schemes and diagnostic facilities, but worse is the absence of counselling or even just a database of rare diseases.
Dr. Meenakshi Bhat, consultant in Clinical Genetics, Centre for Human Genetics, points to a study by a team from IGICH that found that a majority of patients visit their nearest medical facility first, and the doctors at these hospitals do not direct their patients to the appropriate centres immediately.
“Doctors in smaller hospitals don’t realise that these are manifestations of a genetic disease. So they continue to treat the patients symptomatically. They send them to a big hospital after quite some time,” she says. Bhat adds that the occurrence of genetic disease is marginally higher in developing countries due to poorer early diagnosis and additional disadvantages such as maternal malnutrition or infection.
An awareness run.
Price of life
The unavailability and high cost of treatment remains one of the biggest obstacles. “Rare diseases are not covered under the Rights of Persons with Disabilities Act and there is no law that recognises medical disability, depriving patients of all facilities and benefits. The cost of management and supportive care is also prohibitive for parents,” says Shirol.
Due to fewer patients, drug manufacturers are not particularly keen on targeting rare diseases. The national policy paper acknowledges that drugs to treat these “orphan diseases” are sold at “extremely high costs to recoup the cost of research and development.”
“At present, very few global pharmaceutical companies are manufacturing drugs for rare diseases, and there are no domestic manufacturers in India. Due to the high cost, the government has not been able to provide these drugs for free. It is estimated that for a child weighing 10 kg, the annual cost of treatment for some rare diseases may vary from ₹18 lakh to ₹1.7 crore,” the statement says.
Government steps in
It’s just another day at the Centre of Excellence for Rare Diseases at the Indira Gandhi Institute of Child Health (IGICH) in Bengaluru. Shravanth, 16, his sister Arshitha, 13, and their mother Lakshmi are packing up after a day’s treatment. Shravanth started suffering from frequent coughs, colds and fevers when he was three. It was only when he turned seven that he was diagnosed with Primary Immuno Deficiency. Arshitha was also diagnosed with the same disease.
“Shravanth needs five bottles of medicine every 21 days. Each bottle costs around ₹7,500. My daughter needs a bottle every 30 days. For the past six months, we have been getting it for free from the government. But before that, it was such a huge financial burden that we would delay treatment until we arranged for the money,” says Lakshmi. Today, all six PID patients at the centre are fully funded by the Karnataka government.
In cases such as Nidhi’s, the drug manufacturer is providing medicines free as a part of its compassionate access programme.
The Centre earmarked ₹100 crore when the national policy was released two years ago. Although the policy had suggested that costs be estimated for treatment, training and research, and affordable drugs be developed accordingly, caregivers and the medical fraternity argue against this “numbers-based approach”. Doctors point out that given the diverse nature of rare diseases, it would be difficult to put an estimate to the costs.
Meanwhile, the policy was put on hold last year, and the Centre announced that a revised policy would be issued. This has not yet happened, and patients and caregivers are waiting anxiously for some clarity. At the daycare centre in IGICH, the writing is on the wall: “Hope. It’s in their DNA.”
