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Video: Understanding “mild” Fabry disease

There are many common questions and misconceptions about Fabry disease and what it means to have “mild” Fabry disease. This video will help you understand: 

  • What “mild” Fabry disease means 
  • What complications can arise later 

Fabry disease impacts women differently than men

We no longer think women are only carriers of Fabry disease, passing it down to their children without experiencing its effects themselves. Now we know that women do feel symptoms. However, there are still differences in the way Fabry impacts women compared with men:

Women experience initial symptoms later than men. In women, symptoms usually show up around age 13. Men start experiencing them around age 9.

Women are diagnosed around 20 years later than men on average. Although symptoms do appear a little later in women, they wait a lot longer to get their diagnosis compared with men.

Pregnancy is a consideration in Fabry. Pregnant women—along with their partners—should talk with a genetic counselor about when to test for Fabry before birth.

Even though the what, when, and how may differ compared to men, women with Fabry should be seen and heard so that they can get the best possible care.

Both men and women should talk to a doctor about beginning Fabry treatment if they feel symptoms.

Who in your family could have Fabry?

Women with Fabry normally have a 50% chance of passing the gene on to their children, regardless of their children’s gender. Men pass the gene for Fabry on to all of their daughters, but they cannot pass the gene on to their sons.

If you've been diagnosed with Fabry, it's more than likely that other members of your family have the disease. That's why it's essential to work with a genetic counselor to identify others in your immediate and extended family who should be told they may carry the gene.

Remember: the earlier someone is diagnosed with Fabry, the sooner they can get ahead of their disease. You can help your family get tested.

This diagram of a hypothetical family tree shows someone who has been diagnosed with Fabry disease and family members who are also affected or at risk and in need of testing. This diagram of a hypothetical family tree shows someone who has been diagnosed with Fabry disease and family members who are also affected or at risk and in need of testing. This diagram of a hypothetical family tree shows someone who has been diagnosed with Fabry disease and family members who are also affected or at risk and in need of testing.

*In this scenario, the mother has a single affected X chromosome with Fabry disease, and it is assumed that none of her offsprings’ partners are affected.

One study found that once a person is diagnosed with Fabry, genetic testing may identify 5 or more family members who also have it.

Finding Fabry in your family

With cascade testing, a diagnosis of Fabry disease is followed by the testing of other family members. Every positive test can lead to additional testing. With cascade testing, a diagnosis of Fabry disease is followed by the testing of other family members. Every positive test can lead to additional testing. With cascade testing, a diagnosis of Fabry disease is followed by the testing of other family members. Every positive test can lead to additional testing.

Through proper and early diagnosis, the goal is to get more people ahead of the disease's progression. For more information on how Fabry can affect your family, watch this webinar video.

How to start the conversation about genetic testing with your family

You don't have to take on the conversation alone. Invite your relatives to speak with members of your care team—or to join organizations like the National Fabry Disease Foundation and the Fabry Support and Information Group. This can help your relatives feel more comfortable with getting genetic testing done.

  • Start by talking with your primary care doctor. They can help your family members understand more about Fabry disease and put them in touch with a geneticist or genetic counselor if they need one
  • Reach out to a genetic counselor. Based on your family history, they will be able to give your loved ones the information they need to make an informed decision about testing

Fabry disease can impact families in many ways. By encouraging your relatives to get tested as soon as possible, you can help ensure they get the care they need to help get ahead of the disease's progression.

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