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for Living With Rare Disease

Living with a rare disease can feel isolating and overwhelming. However, the Pfizer Patient Affairs Liaison (PAL) team has put together a variety of resources that can be accessed anytime for more information.

Type 1 Gaucher Disease

Gaucher disease is a rare, inherited condition. It’s most common among people of Ashkenazi Jewish heritage. Type 1 is the most common form of Gaucher disease. It accounts for more than 90% of all cases. It is the only type of Gaucher disease that is considered “non-neuronopathic.” This means it does not involve the central nervous system like rarer forms of the disease.

It’s a lysosomal storage disorder that is inherited from a person’s parents. Lysosomes are parts of a cell that make enzymes. When someone has a lysosomal storage disorder, like Gaucher disease, the cells that make a certain enzyme don’t work as they’re supposed to. 

In a person with Gaucher disease, cells do not produce enough of an enzyme called glucocerebrosidase (pronounced GLOO-ko-SER-e-bro-sy-dase). This enzyme is needed to break down a fatty substance called glucocerebroside (pronounced GLOO-ko-SER-e-bro-side). Without enough of this enzyme, the fatty substance builds up in some cells. These cells are called Gaucher cells.

Over time, Gaucher cells collect in various organs, causing the signs and symptoms of Gaucher disease.


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    What is Gaucher disease? 
    This brochure gives an overview of Gaucher disease and how it is inherited and diagnosed.

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Patient Advocacy Groups

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Patient Affairs Liaison Digital Brochure

An overview of the PAL program. Share this with someone in your life who may want to connect with a PAL!

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Insurance Review Webinar Video

This 4-part series provides an overview of health insurance basics. It may be useful to help you understand the options and learn about coverage.


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