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Tuesday, October 10, 2017 9:00 am EDT

Living with Gaucher Disease

Sanofi Genzyme has been committed to the Gaucher community for more than 30 years. We launched the first therapy for Gaucher disease in 1991 and shortly thereafter established a humanitarian program, enabling patients in circumstances where treatment access is limited gain access to therapy.

Today, our commitment continues with more than 6,000 patients around the world on a Sanofi Genzyme therapy for Gaucher disease, including 400 receiving treatment free of charge through our humanitarian program. Our research and development also continues, as we apply our knowledge to the development of investigational therapies for patients with Gaucher disease type 3 and a genetic form of Parkinson’s disease.

October 1 marked International Gaucher Day and in the U.S. October is recognized as National Gaucher Disease Awareness Month. In honor of those living with Gaucher disease, we tell stories that demonstrate the strength and success of those living with this rare disease.

Amr, Egypt

Maamon and his family were living in Aman, Jordan in 1997 when his son, Amr’s inexplicable deteriorating health led them to look for answers anywhere they could. A Jordanian blood specialist confirmed that the mysterious illness afflicting their son was Gaucher disease and recommended that they seek the counsel of a doctor in Jerusalem who had experience with it. Dr. Zimran, an early treater of Gaucher disease, examined Amr and told the family that he needed an enzyme replacement therapy that was unavailable to them in Israel. The doctor did, however, hear about treatments being provided in Cairo, Egypt through a new program and helped Amr’s family make contact with Genzyme to petition for help. Shortly after, Amr became the first patient admitted into Sanofi Genzyme’s Humanitarian program in Egypt.

This marked the beginning of the Gaucher Initiative, a collaboration with Project Hope to provide Gaucher patients with access to therapy regardless of their ability to pay.

Today Amr says, “I love anything creative… So I love concerts, I love dancing. I took dance classes for a little period of time. I love drawing and art. I like to go to the opera house. I like to go to some galleries. That’s all for myself.”

Since its inception, hundreds of patients in Egypt have received treatment free of cost and the program has helped build the capacity of the Egyptian health system to properly diagnose, refer and manage Gaucher patients. The program has also contributed to countrywide understanding of the disease.

To learn more about Gaucher disease, visit https://gauchercare.com/

 

Last Updated: 9/27/2017
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