One in four Jews is a carrier for one of 19 life-altering Jewish genetic disorders. Being a carrier means that although you might be completely healthy with no family history of disease, your future children may be at risk, and the only way to find out is to get screened.
Gaucher Disease is one of 19 conditions seen more frequently in the Ashkenazi Jewish population. Approximately one in 12 Jews is a carrier for this condition, making Gaucher Disease one of the most common genetic diseases seen in the Jewish community. Some of you may ask: Gaucher Disease, how have I never heard of this condition if it is supposedly so common in my community?
The Norton & Elaine Sarnoff Center for Jewish Genetics is leading the nation when it comes to educating individuals on exactly this topic! In addition to Breast Cancer Awareness Month, October is National Gaucher Disease Awareness Month.
Approximately 1 in 40,000 to 60,000 people in the general population have Gaucher Disease. However, among individuals of Ashkenazi Jewish descent, the incidence is 1 in 450. This means that Gaucher Disease is over 90x more common in the Jewish community!
So what exactly is Gaucher Disease?
Gaucher disease is an inherited genetic disorder. There are multiple types of Gaucher disease and Type I is the most common form of this condition. Individuals with Gaucher Disease have a problem with a gene that makes the enzyme glucocerebrosidase. The job of this enzyme is to break down a particular fatty substance called glucocerebroside. Since individuals with type 1 Gaucher have a problem with this particular enzyme, the fatty substance accumulates over time in various organs of the body. The accumulation most often occurs in the spleen, liver, and bone marrow.
What are some signs and symptoms of the condition?
Type 1 Gaucher disease does not involve the nervous system (brain/spinal cord) and is the mildest form. The signs and symptoms can be variable; some individuals have no symptoms and lead normal lives, while others may experience many of the symptoms and need life-long treatment. The age of onset is widely variable and the disease may appear anytime from childhood to adulthood.
The major clinical symptoms include:
- Enlargement of the liver and spleen (hepatosplenomegaly).
- A low number of red blood cells (anemia).
- Easy bruising and nose bleeds caused, in part, by a low level of platelets (thrombocytopenia).
- Bone disease (bone pain and fractures).
Is there treatment available?
Gaucher disease is very effectively treated with infusions of enzyme replacement therapy (ERT). Treatment with ERT has been shown to reduce the size of the liver and spleen and normalize hemoglobin and platelet values. Prolonged treatment, over the course of two to four years, has been shown to reduce the rate of bone loss, improve bone pain and reduce bone crises. ERT is available for the treatment of both children and adults with type 1 Gaucher disease.
An alternative to ERT is an oral medication that reduces the amount of the fatty substances that accumulate in the body—substrate reduction therapy. This therapy has been shown to reduce the size of the liver and spleen and normalize hemoglobin and platelet values. This therapy is currently only available for the treatment of adults with type 1 Gaucher disease.
What can I do?
Knowledge is a powerful tool and can help you make important strides for a healthy family and future
The Sarnoff Center is the first community screening program that is exclusively using an advanced DNA sequencing test that allows you to be screened from the convenience and privacy of your own home, with just a small saliva sample. A short live-webinar provides you with the education and genetic counseling you need to understand carrier screening, and what your results could mean, as well as what your future options are for a healthy family if you are found to a carrier. The webinar can also answer any other questions you may have, and Center staff members are available throughout the process if you have any further questions or concerns. Then, before you know it, a saliva kit arrives at your front door.
One small saliva sample, and you can arm yourself with potentially life-saving information. Seems like a no-brainer, right?
Please feel free to contact Elayne Goldman at ElayneGoldman@juf.org with any questions or concerns
National Gaucher Foundation
2227 Idlewood Road, Suite 12
Tucker, GA 30084
Children's Gaucher Research Fund
P.O. Box 2123
Granite Bay, CA 95746-2123