Family Testing

Early diagnosis is important

A diagnosis of Fabry disease in your family means that other relatives are likely to have the disease as well. Testing for Fabry disease allows earlier diagnosis and earlier access to appropriate care. A negative test result can relieve uncertainty, while a positive result can allow for more informed choices about your disease.

About testing

It is important to keep in mind that when one person in a family is diagnosed as having Fabry disease, others are at risk as well. Testing can help family members to determine their individual risk.

For males, testing for Fabry disease is relatively straightforward: a blood test measures the amount of alpha-GAL enzyme in the bloodstream.

However, since females with the defective gene can have normal amounts of alpha-GAL in the bloodstream, a genetic test that analyzes her DNA is required to detect Fabry disease.

More about diagnosis »

The emotional impact of knowing

Finding out that you have or are at risk for a serious disease can bring on a whole range of emotional reactions. In addition to concerns about one’s own health, there are often concerns about passing on the defective gene to children. Even a negative test result may have consequences. Your sense of relief may be mixed with guilt that you avoided the disease, while others in your family may have inherited it. These reactions are normal, and being prepared for them in advance can lessen their impact. If you are considering testing for Fabry disease or coping with test results, there are organizations that can help you find support.

In her article “Learning About Fabry Disease: Reactions and Feelings”, Dr. Barbara A. Wehmann writes about the emotional journey of coming to terms with the diagnosis. Dr. Wehmann is a trained psychologist who also has Fabry disease. The article is hosted on the Fabry Support and Information Group (FSIG) website.

Read the article on the FSIG website »

Find Fabry support groups »

How a genetic counselor can help

A genetic counselor is a professional trained to provide support before, during, and after testing. He or she will:

  • Research your family history and evaluate medical records to assess the risk of Fabry disease
  • Help weigh the medical, social, and ethical decisions surrounding genetic testing
  • Provide support and information to help a person make a decision about testing
  • Provide counseling or refer individuals and families to support services

How Fabry disease is inherited »

Video clip: The Importance of Recognizing Family Members at Risk

Catherine Bove, a Nurse Genetic Specialist at Massachusetts General Hospital, discusses how a genetic counselor can help individuals and families through the process of deciding who should get tested.