Gaucher Disease: Learning The Truth

A simple test could help diagnose and treat a genetic disease that can cause severe debilitation. Yet nine out of 10 people most at risk for the condition do not even know it exists.
The condition, called Gaucher disease, can affect all people, but is primarily seen in Jewish populations of Eastern European descent. The carrier rate for these people may be as high as one in 15 and the rate of the disease in the general population is believed to be about one in 100 to 200 people. If both parents carry the disease, the odds of a child being born with it are one in four.
Gaucher disease is passed down from parent to child and can occur at any age. Signs and symptoms can include:
• Fatigue
• Unusual bruising
• Bleeding episodes
• An enlarged abdomen
• Bone pain.
Although the disease can be devastating, it can often be managed. However, people must first be aware of the condition, which many are not. "A survey showed that 90 percent of the Jewish population is unaware of Gaucher disease. That means many people may be symptomatic and have no idea that they even have the disease," says Rhonda Buyers, National Gaucher Foundation Executive Director. "The good news is that, unlike other genetic conditions, Gaucher disease is treatable and can be diagnosed with the use of a simple blood test."
Buyers says that lack of awareness about Gaucher disease extends to physicians as well. In fact, a survey found that four of five blood specialists suspected leukemia or lymphoma when presented with the signs and symptoms of Gaucher disease.
Her group is working to change that. Not only does The National Gaucher Foundation fund research intended to cure Gaucher disease, it also works to promote physician and community awareness about the condition (September is Gaucher Awareness Month). At the same time, the foundation helps meet the needs of patients and families affected by Gaucher.