Talking with Family Members

Why they should know about Fabry disease

Telling family members about Fabry disease may not be easy. Depending on how close you are with your extended family, you may need some time to think beforehand.

Why tell relatives?

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

  • Since Fabry disease is inherited, others in your family may have the disorder or may be carriers of the genetic defect that causes Fabry disease. Informing family members may encourage those at risk to speak with their doctors, and earlier diagnosis can lead to earlier disease management.
  • Family members who are informed about and understand Fabry disease may be better able to understand your needs and can be a valuable source of support for you.

Tips on talking with family

Since many members of your extended family must be considered at risk (including some you may not even know) tact and sensitivity are required:

  • Be prepared to explain Fabry disease the best you can.
  • Be ready for questions, but don’t be afraid to say if you don’t know an answer.
  • Be a good listener, since the person you tell will need much understanding.
  • Respect the privacy of the people you tell. Let them decide who else in their lives needs to know.

What they need to know about Fabry disease

When you tell your family about Fabry disease, they will naturally have questions. To help prepare you, here are some answers to common questions your family might have about Fabry disease:

What is Fabry disease?

Fabry disease is a genetic condition, which means it is passed down from parents to their children, and multiple people can be affected in a family. When people inherit the altered gene that causes Fabry disease, their bodies cannot produce enough of an enzyme called alpha-galactosidase A, or alpha-GAL. This enzyme is needed to clear certain cells of a substance called globotriaosylceramide or GL-3, which otherwise builds up in the body’s organs and may cause painful symptoms and long-term health problems.

What are the signs & symptoms?

Early signs and symptoms of Fabry disease may include:

  1. burning pain and discomfort (particularly in the hands and feet)
  2. gastrointestinal problems and abdominal pain
  3. fatigue
  4. the inability to sweat, intolerance to exercise and physical activity
  5. reddish-purple skin rash
  6. depression

Later in life, people with Fabry disease can experience serious health problems including kidney and heart failure, and premature stroke.

Why should I care about Fabry disease?

Fabry disease runs in families. So a person’s probability of having Fabry disease is substantially higher when other family members are affected by the condition. Family screening is therefore critical to help diagnose the disease early and start early disease management. Consider genetic screening and counseling for the entire family if you or another family member is diagnosed with Fabry disease.

After talking with family

If symptoms are not present and Fabry disease has been identified in family members, 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.