For 10 years, Nate struggled to receive a diagnosis for his excruciating bone pain. He was finally diagnosed with Gaucher disease and made a miraculous recovery.

What is Gaucher Disease?

Gaucher disease results from not having enough glucocerebrosidase (GCase), an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. Learn More

Testing for Gaucher disease involves a simple blood test.

Symptoms of Gaucher Disease

Blood and organ symptoms

Gaucher disease symptoms and signs involving the blood and organs include:

• Spleen and liver enlargement
• Low platelet count
• Bleeding and clotting problems
• Anemia
• Fatigue
• Lungs

Bone signs and symptoms

Bone problems are common in people with Gaucher disease. With early treatment, you can minimize any permanent harm to your bones and joints.

Gaucher disease symptoms and signs affecting the bones include:

• Bone pain and bone crisis
• Bone infarction or avascular necrosis (AVN)
• Osteopenia and osteoporosis
• Spontaneous fractures
• Joint pain, arthritis and joint damage

Getting Tested for Gaucher Disease

Doctors use a standard blood test called a beta-glucosidase leukocyte (BGL) test to check enzyme activity and diagnose Gaucher disease. A beta-glucosidase leukocyte (BGL) test will almost certainly show whether or not a person has Gaucher disease since all patients with the disease have low enzyme activity.

What Is a Gaucher Disease Carrier?

If you are a Gaucher disease carrier, it means you have just a single gene mutation associated with the disorder. To have the actual disease, you need to have two mutations in the GCase gene; one from your mother and one from your father.

People with Gaucher disease carrier status do not exhibit signs or symptoms of Gaucher disease.

How to Get Screened

There are several genetic screening in-home kits that test for the Gaucher gene.

• JScreen: JScreen is a nonprofit public health initiative that provides easy home test kits for people of Jewish descent. Genetic counselors from Emory University School of Medicine assess the results and provide additional information and resources.
• 23andMe: 23andMe was founded to empower individuals and develop new ways of accelerating research. The members of 23andMe have come together because we believe in the combined potential of genetics and the Internet to have a significant, positive impact. These core values represent what motivates us at 23andMe.

If you suspect you or a loved one has Gaucher disease, or you recently found out you have Gaucher disease, please contact us.