World Rare Disease Day Facts And Myths About Rare Diseases In India

World Rare Disease Day: Facts And Myths About Rare Diseases In India

Last Updated: 24th July, 2022

28th February, 2019 is the International Rare Disease Day. It is observed the last day of February consistently to bring awareness to light about rare diseases.

Do you recollect the Bollywood film “Paa” in which Amitabh Bachchan (a 12-year-old kid) experiences a condition known as progeria? Progeria is a rare disease which is a hereditary issue that makes kids age quickly.

Progeria is only one of the numerous rare diseases influencing various individuals everywhere throughout the globe. Universally, around 5000 to 8000 rare diseases have been distinguished which influence roughly 6 to 8% of the overall populace.


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Rare diseases, as the name proposes, is a condition that influences a moderately little fraction of a populace. Less than 10% of the general population with these conditions gets the ailment explicit treatment. Deferred diagnosis, constrained access to assets, and non appearance of explicit treatment options are in charge of not getting appropriate consideration for these diseases.

The enormously high treatment cost causes emotional strain as well as a monetary strain on the families. In this article, we will try to clarify in insight regarding rare diseases and rundown certain rare diseases in India.

What Is A Rare Disease?

The meaning of the rare disease differs from nation to nation and is typically found on the pervasiveness which ranges from 1 of every 1000 to 1 out of 500,000. Be that as it may, the World Health Organization (WHO) characterizes rare disease as an illness or condition with the pervasiveness of not exactly or equivalent to 1 out of 1000 populaces. An illness can be rare in an area, however might be extremely basic in another district, for instance, IgA nephropathy is normal in Asia and Africa, yet rare in the European Union.


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Albeit rare diseases influence, few individuals, yet are known to apply a noteworthy effect on the general well-being. In addition, rare diseases are undoubtedly not all that rare, particularly in nations with a high populace as the pervasiveness rate is high.

Here are some data about rare diseases, everybody should know:-

  • Around 80% of instances of rare diseases have a hereditary root.
  • Around 50-70% of patients experiencing rare diseases are kids.
  • Around 30% of patients with rare diseases, disease before the age of five.
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  • In spite of the fact that there are 7,000 – 8,000 rare diseases recognized, not in excess of 300 treatment options are as of now accessible. About 95% of rare diseases have simply no affirmed treatment.
  • Rare diseases are ordered into a few categories, for example, metabolic disorders, neuromuscular disorders, blood disorders, autoimmune diseases, skin disorders, and so forth.

Rare Diseases In India

As indicated by a recent report distributed in the Indian Journal of Pharmacology, around 450 rare diseases have been recognized in India. In addition, according to the 2011 national populace statistics information, it is assessed that the rare diseases and disorders populous in the nation was 72,611,605. Here is a rundown of some rare diseases in India.


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Hemophilia: Also known as the “Royal Disease”, it is a rare genetic disorder in which the blood fails to clot due to the lack of blood clotting factors.


Thalassemia: It is a severe blood disorder in which the body produces irregular hemoglobin, which thusly annihilates the red blood cells prompting anemia. It is a hereditary issue.



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Sickle-Cell Anaemia: An acquired disease, sickle cell anemia deficiency makes the red blood cells, wind up unbending and sticky and formed like sickles which influence the oxygen-carrying limit and along these lines, results to anemia.

Sickle-Cell Anaemia

Auto-Immune Diseases: It includes an expansive range of diseases in which the immune cells attack the blooming cells. A portion of the usual autoimmune diseases are lupus, multiple sclerosis, Sjogren’s disease, celiac disease, and so on.

Auto-Immune Diseases


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Gaucher’s Disease: It is another hereditary condition which is come about because of a lack of an enzyme that separates fat, consequently influencing the metabolism of fats and causing amassing of fats in the cells and organs.

Gaucher’s Disease Rare Disease

Hemangiomas: These are noncancerous developments that are comprised of blood vessels. It can happen all through the body and in rare cases can wind up to cancerous. It is normally found in newborn children.

Hemangiomas Rare Disease

Rare Diseases: Few Facts and Not Myths YOU Should Be Aware Of!

  • As a rule, rare diseases are distinguished around a half year after the childbirth. Subsequently, it is the duty of the guardians to search for formative signs amid the developing growing periods of the kids. These incorporate signs, for example, facial highlights, the versatility of the limbs, formative milestones, and so forth.
  • It’s a given that rare diseases are hard to analyze and subsequently, it is critical to counsel the correct specialist and complete tests at dependable medical institutions which can help in early analysis. You can even peruse more data about the tests and diseases online to pick the correct procedure.
  • In the event that you as of now have a kid with a rare disease and are making arrangements for a second kid, at that point it is essential to go for hereditary advising and tests. This is on the grounds that it can assist you with knowing the danger of any rare hereditary condition that can be passed onto the second kid.
  • One of the key hazard factors for rare diseases is an association or consanguinity (which is marriages in the more extended family). This can cause inbreeding and thus, the odds of going down the unusual genes are incredibly high. This can build the danger of rare diseases. Thus, to bring down the danger of rare diseases, it is ideal to keep away from consanguineous relational unions.
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  • A great many people trust that rare diseases are regularly connected with mental retardation or influence just psychological well-being. In anyway, it isn’t valid. There are conditions that can cause physical variations from the norm and furthermore influence metabolism. So instead of regarding it as a revile or a psychological health condition, counsel a specialist to get the correct help at the perfect time to improve the personal satisfaction.
  • As the quantity of individuals experiencing rare diseases is generally less, relatively few medication manufacturing organizations approach to build up the medications. This is the reason, these diseases are additionally called as “Orphan Diseases” and the medications used to treat them are named as “Orphan Drugs.”
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