Taking care of a sick loved one can be an immense responsibility and challenge. However, when they happen to be living with a disease which stumps even the doctors, the challenge grows tenfold.
To address these issues, the government of India recently came out with a National Policy for Rare Diseases (NPRD). However, patient groups say that the policy is inadequate, and is more a set of guidelines rather than an action plan for the government to assist those affected with rare diseases.
What is the National Policy for Rare Diseases?
WHO defines ‘rare disease’ as an often debilitating lifelong disease or disorder condition with a prevalence of one case or less per 1000 population. This definition varies slightly from country to country, according to what the local incidence is. Lysosomal storage disease, Pompe disease, Haemophilia and Thalassemia are among the diseases which have presented themselves in India.
In 2017, the government had introduced the formulation of the National Policy for Treatment of Rare Diseases (NPTRD). This was put on hold at the time until further orders, citing challenges in implementing the policy and the required revisions. In November 2018, a committee was formed to oversee the clauses of the proposed policy and to determine the revisions and changes needed. As per the revisions stated by the committee, a new policy has been revealed now.
The policy has broadly classified rare diseases into three groups from Group 1 to Group 3: those which can be cured with one-time treatment measures such as transplants, those which require lifelong treatment and/or supportive care, and lastly, diseases for which treatment options are available but there is not enough research about their efficacy.
However, rare disease advocacy and support groups have called out the policy for several discrepancies including a lack of funding to support families and individuals with a rare disease. “The policy is good in terms of direction, as a vision statement, but it gives no concrete steps about the actions which will be taken to provide assistance. There are no short term or long term plans,” states Chennai-based Aarthi, the parent of a child with lysosomal storage disease.
Advocacy groups have pointed out that the proposed allocation of financial support has been brought down to a maximum of Rs 15 lakh per case under an umbrella scheme -- Rashtriya Arogya Nidhi – for those who have a rare disease that falls in Group 1, and require one-time treatment. This is much lower than the initially proposed corpus fund of Rs 100 crore.
Further, the policy also passes the buck, and says that crowdfunding can be used to provide financial support. It identifies eight hospitals across India as ‘centres of excellence’ and leaves it up to them to set up crowdfunding initiatives for patients that require it, or for families to themselves look at crowdfunding options for treatment.
The problem is that the policy caps resources for different diseases. While treatment for one particular disease might amount to Rs 10 lakh, another disease may require Rs 1 crore to cover the cost of medications, which are only bound to increase over time.
Financial assistance is a crucial aspect of dealing with rare disease, right from the beginning. An estimated 70 million people in India are diagnosed with a rare disease. However, given the incredibly complex, uncommon and varied nature of conditions that fall under this umbrella term, diagnosis and treatments come with exorbitant price tags.
For instance, just days after the daughter of Prasanna Kumar Shirol, founder member and Executive Director of the Organization for Rare Diseases in India (ORDI), was born, she fell ill. He found himself spending days at hospitals and meeting doctors just to find out what was causing her illness. After a long search, his daughter was diagnosed with Pompe disease, making her the first child in India to have been reported to have this disease.
“People end up losing their lands and livelihoods just trying to find out what is happening. But finding an answer just opens the door to so many other issues,” he says.
“Even after the diagnosis, many individuals require a specific diet and supplements that have to be specifically made for them. If there’s not enough funding for this, does it mean that this child or person will have to die? The government should take responsibility for ensuring the well-being of these individuals,” asserts Prasanna.
‘Like a set of guidelines’
The policy has been criticised for acting more like a set of guidelines to understand the disease, rather than specifying actions which must be taken by the government to offer support to those affected.
For instance, while the policy focus is on prevention, it does not lay down any concrete steps for implementing steps towards it.
"Public Health and hospitals being a State subject, the Central Government shall encourage & support the States in their endeavour towards screening and prevention of rare diseases," reads the policy guideline. However, while screening has been emphasised as a preventive measure, there is no mention of how and when screening will take place, nor has it been stated how screening will be implemented.
“Implementing something as simple as universal newborn screenings can also help with early detection of any of these diseases and an earlier intervention could be provided,” Aarthi notes.