July 24, 2017
Persons and families living with rare diseases at a recent awareness event . Source: ORDI

AROUND 70 million patients, mostly children, living with rare diseases in India have something to cheer about as the Union government has formally recognised their existence and formed a policy to address diagnostic and treatment gaps 

There are over 7000- 8,000 rare diseases in the world of which only 450 have been identified through reported cases in India. These diseases include muscular dystrophies, inherited cancers, autoimmune disorders, congenital malformations, Hemangiomas, Hirschsprung disease, Gaucher disease, cystic fibrosis, and Lysosomal Storage Disorders.

Most of these diseases go undiagnosed and most families can’t afford the high cost of treatment. On the other hand, very few pre-natal genetic diagnostic facilities and trained counsellors are available which leads to greater incidence. A petition filed in the Delhi High Court by a patient led to the Ministry of Health and Family Welfare coming out with a policy on rare diseases in May 2017. The ministry will unveil the method of its implementation on August 4, 2017.

We talk to Prasanna Kumar Shirol, co-founder and executive director of the Organization for Rare Diseases India (ORDI), about the implications of this national policy.

Q. What are the major lacunae in public support system for rare genetic disorders?

At a primary level, there is lack of awareness among medical fraternity as less importance is given to rare diseases in medical education and in practice. Hence, there is no focus on research and development in this area. There are no dedicated healthcare policies and none of the existing government healthcare policy or schemes cover genetic diseases. These patients are also not covered under the Rights of Persons with Disabilities Act, thus depriving them of all the government support.

Absence of a patient registry and database about rare diseases is a big hurdle in policy formation. Lack of diagnostic facilities and accessibility to treatment, absence of newborn screening and very few trained genetic specialists and genetic counsellors are major setbacks for supportive care, guidance and long term management of patients. The cost of treatment is high in India and is inaccessible to majority of the patients. Moreover, the treatment is also not covered by any insurance company.

Lack of diagnostic and treatment facilities, absence of newborn screening and very few trained genetic professionals are major setbacks 

Q. How do you think the new policy by Centre can help the patients and parents? Is the budget allocated enough?

This is one of the fastest policies approved by the Government of India. This will ease the process of diagnosis and treatment. The proposed budget based on existing estimates may be sufficient at this juncture. In absence of a national registry of patients, we need to start with some estimation and it is good enough for now. 

Q. With a policy in hand, what should be done next?

Participants at the 'Race for 7', a run organised to raise awareness about rare diseases in Bengaluru. Source: ORDIThere are no major government programmes on this issue. However, Indian Council of Medical Research has set up LSD (Lysosomal storage disorders) diagnostic centres in select locations for some LSDs.

Since health is a state subject, every state needs a separate rare disease policy based on national guidelines. Karnataka has been working on a policy since 2015 and may implement that soon. States can form committees to undertake epidemiological studies as we only have estimates, no concrete data on number of people living with rare diseases.

Infrastructure in each state should be developed based on respective incidence.

Every patient should get proper diagnosis just like any other disease. Treatment, whether available in India or abroad, should be accessible to everyone. Lot of research and development is needed as 90 per cent of rare diseases don’t have a treatment. Pharmaceutical companies don’t prefer to work on these drugs as they don’t generate as much profit. We need the infrastructure for diagnosis, treatment and research. 

States can form committees to undertake epidemiological studies as we only have estimates, no concrete data on number of people living with rare diseases

Q India does not have a definition for rare diseases. The new policy does not define this either. Do you think this will be a big setback for patients wanting to benefit from the policy?

At the National Initiative for Rare Diseases, organised by AIIMS- Delhi recently, a team of genetic doctors and experts defined a rare disease as a disease with incidence of 1 in 2,000 people. This is likely to answer most of the questions, if accepted.

Q. What are the major government programmes taken up in raise awareness about these diseases?

A lot of mass awareness is needed. Around 80 per cent of rare diseases are genetic in nature. We know many families having 2-3 children living with rare diseases because they don’t know that if there’s already an affected child, the next one should undergo diagnosis in prenatal stage.

This leads to greater health burden on family and in turn on the society. By creating awareness, we can also reduce infant mortality because many children with rare diseases die young.

In fact, ORDI has been organising ‘Race for 7’, a mass awareness run to symbolically represent 7000+ rare disease. This year more than 3,500 people participated in this event. This unique awareness run for rare diseases is also organised in other countries. 

There are many families having 2-3 children living with rare diseases because they don’t know if there’s already an affected child, the next one should undergo diagnosis in prenatal stage

Q. Is it essential to clearly differentiate between rare blood disorders like Thalassemia and rare genetic disorders to get greater attention towards the latter? How does the policy address this issue?

The policy should address and cover all rare genetic disorders, including rare blood disorders. Some of the common blood disorders like Thalassemia and Hemophilia are already covered under government policies and have a support system in place. Once the definition of a rare disease is accepted and implemented such issues will automatically get addressed.


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