Patient Profiles & Gaucher Videos
When you face a new challenge, it helps to learn from someone in a similar situation. Many individuals with Gaucher disease have been helped by talking and listening to others who have "been there.” The videos below are excerpted from a DVD A Message to Elijah produced by the National Gaucher Foundation (U.S), and featuring Elliott Gould narrating. The DVD includes interviews with Gaucher patients about their experience and illustrates the medical science and symptoms of Gaucher disease. For more information, contact the National Gaucher Foundation.
Please click below to play or download the videos. (You can choose “Open” to play automatically. If you have a problem, try “Save” and downloading the videos prior to viewing.)
Ted Meyer & Anndi McAfee Discuss their First Symptoms
Ted Meyer discusses his art and his experience of Gaucher disease as child.
Anndi McAfee discusses her first noticing as a child her hair and teeth changing appearance and her stomach becoming distended.
Inheriting Gaucher Disease
View this clip that uses playing cards to illustrate how genes from a mother and father can combine to pass on Gaucher disease.
Ted Meyer & Bone Crisis
Ted Meyer describes what it is like to experience a bone crisis, and learn how Gaucher diseae causes this painful condition.
Several patients and Elliott Gould discuss common symptoms and how Gaucher disease leads to these signs & symptoms.
Diagnosis and Testing
Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing »
For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »