health mind and body

Every 15th Ashkenazi Jew is a Gaucher carrier


Gaucher disease is a rare, inherited disorder that impacts approximately 10,000 people worldwide. It can cause severe and debilitating symptoms, including enlargement of the liver and spleen, bone disease, easy bruising, and anemia.

 While anyone can be diagnosed with Gaucher disease, it occurs more frequently in people of Ashkenazi Jewish descent than those with other backgrounds. In the Ashkenazi population, Type 1 Gaucher disease affects 1 in 600 people.

 For more than five years, Pfizer has demonstrated its commitment to the Gaucher community through a number of patient programs and support services.

Mariah Kelly, RN, a Pfizer Patient Affairs Liaison, who addressed the recent American Jewish Press Association Conference, spoke about their role in the community and advancements over the past five years. Pfizer introduced the Patient Affairs Liaison role in 2011 to connect Gaucher patients and their communities of care with support services nationwide.

Kelly gave an example of Pfizer’s support for the religious community of a mother who was deeply unsettled about bringing a nurse into her home.

“A mom of six young children was deeply concerned about having an outsider enter her kosher home daily to give her three-year-old his Elelyso injection. She was afraid that would cause lots of disruption in the household. I suggested she meet with a handful of our nurses so she could see their interactions with her son firsthand, and see whom she herself felt most comfortable having in her home.

“Realizing her worries would be addressed, the mother brightened up right away. The nurse they initially chose to come worked with this family for years.” —Source: Pfizer