Rare Disease Day

The Rare Disease Day is celebrated every year on the last day of the February month.

The first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, a month known for having a ‘rare’ number of days.

Objective

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

What is a rare disease?

WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. In the USA, a rare or orphan disease is defined strictly according to its prevalence, specifically ” any disease or condition that affects less than 200,000 persons in the United States,” or about 1 in 1,500 people. European Union (EU) considers diseases affecting fewer than 1 in 2,000 persons to be rare. In Japan a rare disease is defined as affecting not more than 1 in 2500 people. Considering the population of India the suggested threshold for India for a disease to be defined as rare is 1 in 10,000.

It is estimated that globally around 6000 to 8000 rare diseases exist with new rare diseases being reported in the medical literature regularly. However, 80% of all rare disease patients are affected by approximately 350 rare diseases.

Rare diseases include rare cancers, autoimmune diseases, congenital malformations, and infectious diseases amongst others. About half of the rare diseases affect children while the remaining manifest in adulthood. Some examples of rare diseases include Hemangiomas, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, muscular dystrophies and Pompe disease.

Theme for 2024

The theme for Rare Disease Day 2024 is "Share your colours.".

There are over 300 million people worldwide living with a rare disease. As a vulnerable and neglected population they are disproportionally afected by stigma, discrimination and social marginalization, within their social  environment as well as society at large.

There are over 6000 rare diseases that are chronic, progressive, degenerative, disabling and frequently life threatening. Due to the rarity of each individual  disease and scattered populations, expertise and information is scarce. In health and support systems designed for common diseases people living with a rare disease face inequities in accessing diagnosis, care and treatments. 

Source : https://rarediseaseday.org/

Rare diseases in India

India, like many other developing countries, currently has no standard definition of rare diseases and data on prevalence. Since there is no epidemiological data, there are no figures on burden of rare diseases and morbidity and mortality associated with them.

So far only about 450 rare diseases have been recorded in India from tertiary care hospitals. The commonly reported diseases include Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, fabry disease etc.) small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias, etc.), Cystic Fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies and spinal muscular atrophy, etc..

Rare Diseases as a public health issue

The field of rare diseases is complex, heterogeneous, continuously evolving and suffers from a deficit of medical and scientific knowledge. Globally as well as in India, rare diseases pose a significant challenge to public health systems in terms of - difficulty in collecting epidemiological data, which in turn impedes arriving at burden of diseases and cost estimations, difficulty in research and development, making correct and timely diagnosis, complex tertiary level management involving long term care and rehabilitation and unavailability and prohibitive cost of treatment.

Rare diseases constitute a significant economic burden independent of a country’s size and demographics, arising from increased healthcare spending. As resources are limited, here is a macroeconomic allocation dilemma due to opportunity cost of funding rare disease treatment: on one hand, health problems of a much larger number of persons can be addressed by allocating a relatively smaller amount, on the other, much greater resources will be required for addressing health problems of a relatively smaller number of persons.

Rare diseases are, in most cases, serious, chronic, debilitating and life threatening illnesses, often requiring long-term and specialised treatments/management. In addition, they often result in some form of handicap, sometimes extremely severe. Moreover, they disproportionately impact children: 50% of new cases are in children and are responsible for 35% of deaths before the age of 1 year, 10% between the ages of 1 and 5 years and 12% between 5 and 15 years. The impact on families is often catastrophic in terms of emotional as well as financial drain, as the cost of treatment is prohibitively high.

Policy initiatives in India

The National Health Policy 2017 underscores the need for management of rare/orphan diseases.

The Ministry of Health and Family Welfare has formulated a National Policy for Rare Diseases 2021 in India to progressively build India’s capacity to respond comprehensively to rare diseases covering areas of: prevention, awareness generation, training of doctors, funding support for treatment , promotion of research and development for drugs for treatment of rare diseases and diagnostics at affordable prices and measures for making the drugs for rare diseases more affordable, strengthening of laboratory networks, development of Centres of Excellence etc.

Under the “National Policy for Rare Diseases 2021”, there is a provision for financial support upto Rs. 20 lakhs under the Umbrella Scheme of Rastriya Arogya Nidhi for treatment, of those rare diseases that require a one-time treatment (diseases listed under Group 1 in the rare disease policy). Beneficiaries for such financial assistance would not be limited to BPL families, but the benefit would be extended to about 40% of the population, who are eligible under Ayushman Bharat- Pradhan Mantri Jan Arogya Yojana (PMJAY). 

In order to provide facilities for treatment and care of patients suffering from rare diseases, nine (09) Centres of Excellence have been notified, which are premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases. List of Centres of Excellence (CoEs) is given below:

• All India Institute of Medical Sciences, New Delhi
• Maulana Azad Medical College, New Delhi
• Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow
• Post Graduate Institute of Medical Education and Research, Chandigarh
• Centre for DNA Fingerprinting & Diagnostics, Hyderabad
• King Edward Medical Hospital, Mumbai
• Institute of Post-Graduate Medical Education and Research, Kolkata
• Center for Human Genetics (CHG) with Indira Gandhi Hospital, Bengaluru
• All India Institute of Medical Sciences (AIIMS), Bhopal

Source : National Policy for treatment of Rare Diseases

Related resources

1. Directory of Rare diseases