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International Gaucher Day: Conveying the Facts About a Rare Disease

September 30, 2014

In the central square of Belgrade, they distributed educational brochures, bracelets, pens, and bags. In the Slovenian town of Idrija, they toured a mercury mine, learned to cook a local culinary specialty, and gave each other support. In Croatia, they gathered to hear lectures from physicians and to gain a broader understanding of a disease that has impacted them or those they love.

It was all part of the first-ever International Gaucher Day, celebrated on July 26, 2014. The day was initiated by the European GaucherAlliance (EGA) and the event’s slogan was “Rare but Not Alone.” The date was chosen in honor of the 160th birthday of Philippe Gaucher, the French doctor who first described the disease after he saw a 32-year-old woman with an enlarged spleen. The purpose—and the positive end result—was to raise awareness for the lysosomal storage disorder, Gaucher disease, that affects just one in 40,000 people around the world.

“We are pleased to see the first international awareness day for Gaucher disease, helping to drive awareness of this important rare disease. It’s an extremely active patient community, but it doesn’t always get the recognition it deserves.”

Emmanuel Dulac, Head of Rare Diseases Team

Gaucher, an inherited disease marked by a deficiency, absence, or incomplete functioning of an enzyme called glucocerebrosidase, which causes an accumulation of lipids in cells. Consequently, progressive damage to tissues, bone, and such major organs as the spleen, liver, and brain. Symptoms are various. They often worsen over time. A person with Gaucher could experience anything from a persistently swollen abdomen (due to an enlarged liver and spleen) to debilitating bone pain, to excessive bleeding and bruising to anemia/fatigue to shortness of breath. There is no cure for Gaucher, but there are treatments to alleviate the signs and symptoms, and increasing awareness about the condition is essential to helping support early diagnosis of the disease. For its part in International Gaucher Day, Shire, which is committed to improving the lives of those with the disease, produced informational materials—an infographic visualizing the impact and burden of Gaucher and an in-depth fact sheet. The materials were, and will continue to be, used to help inform and educate about the disease. Shire also supported the EGA by distributing International Gaucher Day branded give-aways to its employees.

“We are pleased to see the first international awareness day for Gaucher disease, helping to drive awareness of this important rare disease. It’s an extremely active patient community, but it doesn’t always get the recognition it deserves.” said Emmanuel Dulac, Head of Shire’s Rare Diseases Business Unit. “We felt we could support this day and make our greatest difference by helping to educate others about the signs and symptoms of Gaucher, the rates of incidence and inheritance, and the importance of early diagnosis.”