Consultancy Corner: Need robust state health policy to address rare diseases challenge

However, there is a segment of diseases on which there has been not much emphasis. This segment consists of rare diseases which affect a small number of people. 

Although rare, these diseases are chronic, severe and progressive. A lack of awareness about rare diseases even among doctors means that diagnosis often takes many years. Further, the cost of diagnosis and treatment is so prohibitively expensive that it becomes unaffordable. Till now, the absence of a national government policy surrounding rare diseases meant that there was no push for a better diagnosis and treatment procedure for such patients. 

Recently, though, the National Policy for Treatment of Rare Diseases has been formulated and approved by the Ministry of Health and Family Welfare. The policy is comprehensive and covers all major aspects related to rare diseases, including having a definition of rare diseases, establishing more diagnostic centres, setting up of a centre and state corpus fund for treatment and developing web-based applications. However, the challenge is to make it more patient friendly, so that the treatment and the diagnostic process for the patients and their families are smoother. The implementation of such a policy is now more important than ever when there is a need for a widespread recognition of rare diseases as a national health challenge. Moreover, health being a state issue, there is an imperative need to replicate it at the state levels so that  treatment can be made accessible to patients across the country. In fact, only when it reaches every corner of the country can the policy have any real impact and will be able to help patients like Kaviyan. 

Kaviyan, a 6.5 years old boy, is suffering from a rare disease called Gaucher. When he was one, Kaviyan started developing breathing problems and other  disturbing symptoms like development of dome chest and an enlarged stomach. At first, the real cause of his symptoms could not be recognised and some doctors even suggested that Kaviyan has obesity since he had a big stomach. After consulting various doctors and undergoing various tests, he underwent certain genetic and bone marrow tests which confirmed Gaucher. Today, he is receiving Enzyme Replacement Therapy (ERT) under Employee’s State Insurance Corporation (ESIC). Post the treatment, Kaviyan is able to lead a normal life. Earlier, he was unable to walk even for a minute but now he is much better and is mobile. 

This case is a clear example of how correct and timely diagnosis and right treatment is important for people suffering from rare diseases. What is needed is for the state governments to actively implement measures for furthering clinical research for the timely diagnosis and treatment of rare diseases. This can be done on the basis of the number of patients in each disease group. A robust state policy will holistically address the unique needs of different rare disease patients from diagnosis, management and treatment to accessibility and affordability which would help patients lead a better quality of life. 

Last year, Karnataka became the first state to draft a Rare Diseases and Orphan Drugs Policy which is currently under consideration. Although, the policy will take time to get approved and implemented, it will only be good for other states to follow Karnataka’s footsteps. Until this happens, the situation will continue to remain bleak for patients and their families. 

It is time to recognise the challenges and the needs of patients with rare diseases and make this a public health priority. A state-wise forthright, clear and concise rare disease policy will be a harbinger to provide apt and affordable treatment to those who suffer from rare diseases in the country.