October 1st is International Gaucher Day!
What is Gaucher Disease?
Gaucher disease is a lysosomal storage disorder in which the activity of the enzyme beta-glucocerebrosidase is incredibly low or non-existent.
Beta-glucocerebrosidase is responsible for the breakdown of glucocerebroside (a lipid) into the simpler glucose and ceramide molecules. If beta-glucocerebrosidase activity is too low (as in the case of Gaucher disease), then glucocerebroside levels accumulate in cells and cause damage to tissues and organs.
What are the symptoms?
There are different types of Gaucher disease, and signs and symptoms of disease vary widely. Most people who have Gaucher disease have varying degrees of the following problems:
- Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
- Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
- Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.
More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures.
What we can do, with the help of the EGA
The European Gaucher Alliance is dedicated to helping the Gaucher community.
The theme of the #IGD2018 #rarestars campaign will focus on the doctors, nurses, scientists, patient advocates and all others who do the hard work to improve the lives of the Gaucher patient community.
Help raise awareness of IGD2018 and Gaucher disease!
For those of us not in Europe – but still very much a part of the rare disease and Gaucher community – there are ways to spread awareness.
Amplify their message on your social media!
- Download and share the #IGD2018 poster!
- Download and share the #IGD2018 factsheet !
- Use the #IGD2018 signature on your email!
- Share photos and on social media using #IGD2018 #rarebutnotalone #rarestars hashtags!
- Change your Facebook profile picture and/or your Facebook cover using the IGD logo and banner
- Change your Twitter badge and/or your Twitter cover using the IGD logo and banner
Or, help amplify the EGA’s social media presence!
- Visit and like them on Facebook
- Visit and follow them on Twitter @GaucherDay
- Visit and follow them on Instagram @gaucherday
Whatever you can do will help add a louder voice for the Gaucher community!