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Gaucher disease is a rare, inherited disorder that is marked by a shortage of a certain enzyme, called glucocerebrosidase. As this enzyme is vital for helping the body to break down cells that have been worn out, people with Gaucher disease have a buildup of a fatty substance that can cause a wide range of symptoms and problems.

International Gaucher Day is here to raise awareness about and provide information about this rare disease to improve understanding and also encourage early diagnosis for better health.

History of International Gaucher Day

Gaucher’s disease was named after Philippe Gaucher, the French physician who first described it in 1882. Symptoms may vary but they include enlarged organs (liver, lungs, kidneys, spleen), joint pain, digestive problems, bone issues, anemia and nosebleeds and fatigue along with some others.

While there still is no cure for Gaucher disease, modern medicine has brought about treatment options, the most common of which is Cerzyme, a medicine approved by the FDA in 1994. An important factor in the health of those affected by Gaucher disease is early detection and diagnosis, and that is part of the desire for raising awareness through International Gaucher Day.

International Gaucher Day was launched in 2014 by the International Gaucher Alliance with the purpose of raising awareness for and educating the public about Gaucher disease. The day is also supported by a few pharmaceutical companies that specialize in Gaucher research.

Over the years, different events and activities have been planned in honor of the day, including different themes that have accompanied the celebrations. Some of the past themes for this day have been:

  • Rare But Not Alone (2017)
  • Rare Stars: Giving Hope, Improving Lives (2018)
  • Early Diagnosis, Better Lives (2021)
  • Body, Mind, Soul: Managing Your Gaucher Disease (2022)

How to Observe International Gaucher Day

Get involved in helping the world learn more about this rare disease by observing International Gaucher Day with some of these ideas:

Access International Gaucher Day Resources

Those who are interested in learning more and being advocates for Gaucher disease awareness may be interested in visiting the International Gaucher Alliance website to gain access to tools and resources for the day. Many resources are available in up to fifteen different languages. A special video about the power of a timely diagnosis was also created in honor of International Gaucher Day in 2023 and is available on the webpage.

Learn About Gaucher Disease 

One of the most ideal ways to honor International Gaucher Day is to improve knowledge and understanding of this rare disease and then share information with others to raise awareness. Do some online research on this day, or get started with some of these important facts about Gaucher disease:

  • Gaucher disease has three different types, Types 1 and 3 which are treatable and Type 2 which is not yet treatable

  • Some people with mild Gaucher disease are not aware of it as they have very few symptoms

  • Type 1 Gaucher disease is called “Adult Gaucher”, but it can affect people of any age

  • Type 2 Gaucher disease is extremely progressive and affects the central nervous system of infants up to one year of age

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