Maqsood Alam had four children, all of whom have died. Three of his children died before they turned two after being diagnosed with Gaucher disease, a genetic condition classified as a rare disease. Rare diseases like Gaucher require treatments that are expensive. According to the National Policy for Treatment of Rare Diseases that was approved in May 2017, Alam should have received financial support to treat his youngest son. But despite several applications for financial aid to state and central government authorities, no money was released to Alam under the policy.

In the 17 months since the policy has been approved, there has been little headway in implementing it. Of more than 180 applications that have been submitted to the government, not a single one has been approved. According to the Organisation for Rare Diseases India, at least six children have died while waiting for their applications to be approved.

Now, the government has told the Delhi High Court that the policy needs to be reframed, which will result in further delays in financial support to patients. The government has issued a notification saying that the existing policy will be kept in abeyance till it issues a revised policy.

The existing policy was envisaged to help families with the prohibitively high and often catastrophic expenses for the treatment of rare diseases. Rare diseases are generally genetic conditions like lysosomal storage disorders, Pompe disease, Gaucher disease and mucopolysaccharide disease that affect a small proportion of the population. There are about 8,000 known rare diseases, but about 350 diseases affect more than 80% of patients.

Many parents of children with rare diseases had previously filed writ petitions at the Delhi High Court, asking that the government provide the treatment for free. In light of the petitions, in 2016, the court directed the Ministry of Health and Family Welfare to frame a national policy on treatment of rare diseases.

The policy states both short-term and long-term measures. The short-term measures include setting up technical committees to approve applications for financial aid to patients and to identify hospitals where they can be treated. The long-term measures include understanding the nature and burden of rare diseases in India and finding ways to treat them.

The Union government has set up an annual corpus of Rs 100 crore under the policy. States are required to set up similar corpuses and the Centre is supposed to contribute 60% to the state corpus. So far, only six states – Delhi, Karnataka, Tamil Nadu, Kerala, Jharkhand and Manipur – have set up technical committees to approve applications. State technical committees need to approve patient applications and forward them to the central technical committee for further approval after which funds can be released.

“In many states, state technical committees have not been formed,” said Prasanna Shirol, founder of the Lysosomal Storage Disorder Support Society and director of the Organisation for Rare Diseases India. “In other states where there are state technical committees, many applications have been approved and sent to the central technical committee but there has been no response.”

Pillar to post

Alam’s youngest son was diagnosed with Gaucher disease when he was just three months old by doctors at the All India Institute of Medical Sciences. Gaucher disease is characterised by the accumulation of fat in some tissues and organs. It can cause dangerous and painful enlargement of the spleen and liver and also cause skeletal abnormalities and blood disorders. In patients with gaucher, enzymes do not break fat depositions properly and treatment involves enzyme replacement therapy.

“One dose is about Rs 1,10,000,” said Alam. “For my son who was about 9 kgs, one year’s treatment would be more than Rs 38 lakh.”

Alam works as a Arabic translator for patients from the Middle East visiting Delhi for medical purposes and his payment depends on the number of clients he can translate for. In a good month, he makes up to Rs 15,000. There are months where he does not get any clients. He has no other sources of income.

“If it was a matter of Rs 1 lakh or Rs 2 lakh, I would have somehow raised the money,” he said. “But I cannot pay for anything more than that.”

Ratna Devi, CEO and co-founder of DakshamA Health and Education, an organisation that works on for access to health, patient education and advocacy, including rare diseases, said that even as a first step a corpus of Rs 100 crore is too small.

“Treatment is based on body weight and if the child is thriving, growing and gaining weight with treatment, he or she will need more of the medicine,” she said. “The cost of treatment keeps increasing and that has not been factored into the policy. One child will need between Rs 12 lakh to Rs 15 lakh per month or Rs 1 crore per year. With a Rs 100 crore corpus you can manage about 15 children at the most.”

Alam’s son died in November when he was 18 months old. In the three months before that, the father had been to every health authority of the central and state government. “I sent my application by post and I submitted by hand,” he said. “The Union health minister’s office told me that if any money could be released under the policy, they would let me know but I never heard back. The policy has been lying in a file and is not being used to help anyone.”

Boy with Gaucher disease. (Photo: Organisation for Rare Diseases India)

Government stalls

In October, Shirol filed a petition in the Supreme Court asking it to direct the central and state governments to identify hospitals and start treating patients according to the provisions of the policy.

Last week, the health ministry replied to the court in an affidavit saying that the policy needs to be reframed because of implementation challenges and problems with cost effectiveness. “Though framed with the best intent had implementation challenges and gaps including the issue of cost-effectiveness of supporting such health interventions for a resource-limited situation which made it not feasible to implement in the present shape,” notes the affidavit.

The affidavit further states that the implementation of the policy was mistakenly shifted from the Public Health Division to the National Health Mission, which has the mandate of only primary and secondary healthcare while most rare diseases require tertiary care. Due to this discrepancy, the affidavit claims, National Health Mission funds cannot be earmarked to create the Rs 100 crore corpus.

“Did the government not know for one whole year that the National Health Mission funds cannot be used?” asked Shirol. “ It shows the intention of the government not to implement the policy and give treatment to patients.”

The affidavit also points to only six states setting up technical committees as a problem of implementation. It further states that if, as Tamil Nadu has pointed out, the cost of treatment using required proprietary drugs comes up to about Rs 45 lakh per year for one patient, then the policy is “unsustainable and impractical” and the same money can be used to save many more lives in a resource-limited country like India.

The government also says in the affidavit that the health ministry is proposing a new scheme to provide one-time financial assistance to poor patients with rare diseases living below the poverty line.

Devi pointed out the discrepancy here that poor patients are less likely to be diagnosed in time to be treated. “Many of the poorer families might not have been able to come to a diagnosis because they might not have been able to afford it,” she said. “The national treatment policy has some inclusion and exclusion criteria. One of the criteria is that the child should have been diagnosed early enough so that there has been no severe damage and the treatment is of value to the life of the child.”

While the Centre framed a new policy, it is keeping the existing policy on hold, which Shirol said is another sign that the government does not take the treatment of rare diseases seriously. “Start treating patients under the existing policy and meanwhile you can go ahead and reframe it,” he said.