Rare Disease Day
This topic provides information about Rare Disease Day celebrated on the last day of February.
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.
The theme for Rare Disease Day 2018 is "research". Rare disease research contributes to the development of diagnostic tools, treatments and cures, as well as improved health and social care for patients and their families. The patient community needs researchers. They discover diseases and develop treatments and cures. Researchers also need patients and reply upon their participation to ensure research is meaningful. Rare disease research is not done for the sake of creating knowledge; the knowledge generated is only useful if it is translated into real benefits for patients. Patients are not only subjects but also proactive actors in research.
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?
By definition, a rare disease occurs infrequently in a population, but there is no universal definition. 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.
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 most common rare diseases include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto- immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.
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 treatment of Rare Diseases 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 on the parameters to be defined by a Central Technical cum Administrative Committee, 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.
On the whole, the Policy seeks to strike a balance between the interest of patients of Rare Diseases and health system sustainability. The Policy also recognizes and delineates the role of various Ministries and departments in the area of Rare Diseases.