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If you have been diagnosed with Fabry disease, there are two important reasons why you may want to consider discussing this with immediate and extended family:

Below are some points you may want to include in your discussions with family members.

• The signs and symptoms of Fabry disease are caused by a deficiency of a critical enzyme called alpha-galactosidase A, or alpha-GAL. This leads to a buildup of substances in the body's cells, which can damage certain tissues and organs.
• Fabry is a genetic disease, which means other family members may also have inherited the genes that can cause this disorder.
• Fabry disease can be diagnosed by a blood test that measures alpha-GAL activity.

The common signs and symptoms of Fabry disease include:

• Intense pain in the hands and feet
• An impaired ability to sweat
• A skin rash occurs in the area below the waist and above the knees
• Gastrointestinal problems such as stomach pain, diarrhea, and nausea
• Heat and/or cold intolerance
• Problems with major organs like the kidneys, heart, and brain
  

If symptoms are not present and Fabry disease has been identified in family members, it may be a good idea to speak to a physician about being tested for Fabry disease.

Remember that genetic counselors may be valuable resources for people with genetic disorders and can help with these discussions. Click here to learn more about genetic counselors.