This special commemoration began in 2008. Since then, every last day of February is dedicated to raising awareness about these rare but significant diseases. The choice of the last day of February was not random. February, with its peculiarity of occasionally being a leap year, becomes the perfect month to represent "rarity."

What are rare diseases? Definition and characteristics

Rare diseases, also known as orphan diseases, are those pathologies that affect a small population fraction. Although each may be rare, together they represent a significant challenge to medicine, as it is estimated that there are more than 6,000 identified rare diseases - many of them are chronic, degenerative, debilitating and life-threatening - and affect more than 350 millions of people around the world. These diseases usually have a genetic component and present specific symptoms that can vary greatly between patients.

What makes them especially challenging is that they are often difficult to diagnose. This is because its symptoms may be similar to those of more common diseases or simply because they are unknown to many health professionals.

Causes and origin of rare diseases

Most are genetic in origin, meaning they are present from birth, even if symptoms do not appear until later in life. However, they can also be the result of infections, allergies, or environmental factors. Additionally, some may arise due to combinations of genetic and environmental factors.

Early diagnosis is crucial, as a delay can result in inappropriate treatments or additional complications. However, due to its rarity, the path to a correct diagnosis can be long and winding for many patients and their families.

Thanks to the European Organization for Rare Diseases (EURORDIS), the celebration of World Rare Disease Day began to gain more popularity and participation from the United States, Russia, China and some Latin American countries, which began to become aware of the problem. 

In recent years, the commitment has been greater on the part of these nations, where campaigns, conferences and awareness programs have been carried out to make people more conscious to provide help to patients suffering from some type of disease with these characteristics.

Some rare diseases have their own international or world day, and among the most named we find:

  • January 26: World Kawasaki Disease Day
  • February 15: International Angelman Syndrome Day
  • August 28: World Turner Syndrome Day
  • September 4: World PFAPA Syndrome Day.
  • September 7: World Duchenne Awareness Day
  • September 17: World Kleefstra Syndrome Day
  • September 18: World Pitt-Hopkins Syndrome Day
  • September 25: International Ataxia Day September 28: International Arnold Chiari Syndrome Day
  • October 1: International Gaucher Disease Day
  • October 7: International Trigeminal Neuralgia Day

It is essential to recognize the crucial role that patient organizations, researchers, healthcare professionals and advocates play in the fight against rare diseases. Together, they work to improve early diagnosis, develop effective treatments, and provide comprehensive support to those living with these conditions and their families.

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