Gaucher Disease Awareness Month

gaucher awarenessEach October, the National Gaucher Foundation hosts Gaucher Awareness Month to shed light on the importance of early detection and education about this rare disease.

What is Gaucher disease?

Named after French doctor Philippe Gaucher, who first described the symptoms in 1882, Gaucher disease is a lysosomal storage disorder. That means the body is deficient in a certain type of enzyme. It is an inherited disease that is carried by as many as 1 in 200 of the general population.

Diagnosis and Treatment:

Symptoms of the disease include bleeding and bone problems such as anemia, bruising easily, nosebleeds, osteoporosis, easily broken bones, and swollen belly due to enlarged liver and spleen.

How can I help?

Although Gaucher is a rare disease, the foundation recognizes that many more people may be carriers of the gene than affected by the illness. Because it is passed down to children, it’s important that potential carriers are informed about the disease.

Since much of the education about the disease involves the community, the National Gaucher Foundation has set up a month long virtual event on their website. Visitors to the site can play games, watch videos, view photos, read the new Gaucher comic book, and more.

New to their website is the first patient-centered national registry of Gaucher disease. Families can submit their personal experiences for a more realistic record of how different people are affected by the disease.

If you’re looking to get involved, consider speaking to your community about the disease, sharing your story of how you or your family were affected, or making a donation to the foundation, There is also a list of other ideas for promoting awareness of Gaucher during October.

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