Family & Caregivers

After the diagnosis, then what?

Finding out that a loved one has been diagnosed with a serious, rare medical condition is never easy. You might have never heard of the word "Fabry" before, and suddenly so much seems to depend on knowing as much as you can about it.

FabryCommunity.com is part of Genzyme's ongoing commitment to providing education, support, and disease management for people with rare genetic diseases. Here you'll find comprehensive information about the disease, as well as resources and links to the wider Fabry community.

• Supporting a family member

  Learning about Fabry disease can help you gain a better understanding of a family member's experience and may help you decide the best way to care for them.

• Family matters

  
  Knowing that a relative has a serious chronic disease can change the dynamic of any family, bringing a wide range of emotional reactions into play.

• The facts about Fabry disease

  • Fabry disease is an inherited disorder estimated to affect 1 in 40,000 males, and 1 in 117,000 people in the general population; the incidence in females is not known.
  • Fabry disease is caused by a genetic deficiency of an enzyme known as alpha-galactosidase A (pronounced al-fa-ga-lak-toe-si-daze A) or alpha-GAL.
  • First symptoms of Fabry disease usually appear in childhood, but a diagnosis may not be made until well into adulthood.
  • Some symptoms of Fabry disease, such as fatigue, resemble those seen in other disorders, such as chronic fatigue syndrome.

• Learn more about Fabry disease

  Learn the basics about Fabry disease symptoms, causes, and diagnosis. Learn more about Fabry Disease

  Knowing how Fabry disease is inherited can help you to understand why some members of your family are affected, while others are not. Learn More about Fabry Disease Inheritance

  A genetic counselor can provide you with support in dealing with issues such as disease inheritance, family planning, genetic screening, and communicating with family members. Learn more about Genetic Counseling

  Download a worksheet that can help you to better understand the inheritance pattern in your family, and the risk of passing Fabry disease to your children. Learn more about your Medical Family Tree