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Rare Disease Day

Topics Covered: Issues relating to development and management of Social Sector/Services relating to Health, Education, Human Resources.

Rare Disease Day

What to study?

For Prelims: What are rare diseases? How do they occur?

For Mains: Their spread, concerns and issues associated.

Context: Rare Disease Day is observed on February 29. 

What is a rare disease?

A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.

Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not immediately appear.

The most common rare diseases recorded in India are 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.

Definition:

While there is no universally accepted definition of rare diseases, countries typically arrive at their own descriptions, taking into consideration disease prevalence, its severity and the existence of alternative therapeutic options. In the US, for instance, a rare disease is defined as a condition that affects fewer than 200,000 people. The same definition is used by the National Organisation for Rare Disorders (NORD).

Concerns and challenges:

  1. They pose a significant challenge to health care systems because of the difficulty in collecting epidemiological data, which in turn impedes the process of arriving at a disease burden, calculating cost estimations and making correct and timely diagnoses, among other problems.
  2. Many cases of rare diseases may be serious, chronic and life-threatening. In some cases, the affected individuals, mostly children, may also suffer from some form of a handicap.
  3. As per the 2017 report, over 50 per cent of new cases are reported in children and these diseases are responsible for 35 per cent of deaths in those below the age of one, 10 per cent of deaths between the ages of one and five, and 12 per cent between five and 15.

Efforts by India towards this:

The Union Ministry of Health and Family Welfare, in January this year, published a national policy for the treatment of 450 ‘rare diseases’. The Centre first prepared such a policy in 2017 and appointed a committee in 2018 to review it.

Overview of the policy:

  1. The policy intends to kickstart a registry of rare diseases, which will be maintained by the Indian Council of Medical Research (ICMR).
  2. Under the policy, there are three categories of rare diseases — requiring one-time curative treatment, diseases that require long-term treatment but where the cost is low, and those needing long-term treatments with high cost. Some of the diseases in the first category include osteopetrosis and immune deficiency disorders, among others.
  3. Financial assistance: As per the policy, the assistance of Rs 15 lakh will be provided to patients suffering from rare diseases that require a one-time curative treatment under the Rashtriya Arogya Nidhi scheme. The treatment will be limited to the beneficiaries of Pradhan Mantri Jan Arogya Yojana.

Insta- Link:

Prelims link:

  • India’s policy on rare diseases.
  • Which diseases can be classified as rare diseases?

Mains Link:

What are rare diseases? How do they spread? And how can the spread be prevented?

Sources: Down to Earth.