Face to face: Gaucher Disease

Some months ago, I wrote about Pompe disease, a rare, but important genetic disorder. I wanted to build awareness on the diagnostic delay, the cause of many misdiagnoses. Now, here is an other outstanding project about Gaucher disease. First, an excerpt from the Wikipedia article:

Gaucher’s disease is the most common of the lysosomal storage diseases. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions…

A journal-blog called Face to face, My journey for the Gaucher Initiative says:

Through this journal I will be documenting my journey to meet the faces behind the Gaucher Initiative, a humanitarian program that provides Gaucher patients in developing countries with the enzyme replacement therapy, Cerezyme, free of charge. I have the rare opportunity to meet with patients and their families to see how the Gaucher Initiative has and continues to affect their lives.

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