Fabry disease: disease overview and personalized support for you and your family
Fabry is a rare genetic disease caused by a genetic variant, or mutation, in the GLA gene. Variants are passed down on the X chromosome, making it an inherited, X-linked disease. Variants can result in absent or deficient alpha-Gal A enzymes, which may not function properly. Alpha-Gal A enzymes usually break down fatty substances, or substrates, in the lysosome. But in Fabry, they are either absent or unable to travel into the lysosome to break down the substrates. They then build up instead, which can affect cells and organs and cause symptoms of Fabry disease.
Learn more about the science of the disease.Get the Fabry facts
Raising awareness and understanding
Many people who are a part of the Fabry community strive to raise awareness of the genetic disorder. Participating in organizations has benefits for individuals living with Fabry disease and for their families as well. Patients and families can inform themselves about the disease that they may not have understood in the first place. And even after people learn more about and understand Fabry, they can still continue to benefit from organized communication. Newsletters, websites (such as this one), and other forms of communication can help people who may not have a science background to stay in the know on the latest news and medical research. The mission of many organizations is to raise awareness of the disease, with the hope that there will be less misdiagnosis when it comes to Fabry.
Connecting with your Fabry family
Every family is different, and that’s also true for families with Fabry disease. Hear from other families about their experiences, to learn how to be an advocate for open communication and support with your own family.
See if others in your family could have Fabry.
Women with Fabry, in particular, can take a long time to be diagnosed because their symptoms can be much more variable. It was once incorrectly thought that women were only carriers of the disease. Now, it has been scientifically found that women are not just carriers but experience the disease, often as severely as men do. Diagnosis of women with Fabry takes on average 10 years from the time they first start noticing Fabry symptoms.
Fabry disease support
Fabry disease is a part of the rare disease community. Fabry also has its own support services as well, including active Facebook groups. Here is a list to help you get started.
- raises awareness of Fabry disease and provides support to patients and their families.
- provides information about living with Fabry disease and runs Fabry projects.
- organizes Fabry disease-related programs and the latest information on managing Fabry.
Facebook groups & pages help Fabry patients actively connect online.
Explore all that FabryConnect has to offer.Begin