Fabry disease was once thought to affect only males; females were generally considered to be only “carriers” of the defective gene, and not vulnerable to Fabry disease symptoms. A carrier does not express the trait, but when mated with another carrier, can produce offspring that do. The medical community is learning that females with the defective gene are more than carriers, and do, in fact, develop a wide range of symptoms.
“Having Fabry disease is not who I am. It's just something I have."– Kelly
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Fabry disease is a rare inherited disorder that prevents the body from producing enough of an enzyme called alpha-galactosidase A, or alpha-GAL.
The experience of having a rare, chronic disorder presents unique challenges for people living with Fabry disease.
Spread the word about Fabry disease; knowledge is power, and your efforts might convince someone at risk to get tested.
Fabry disease involves a defective gene. Women with Fabry disease have a 50% chance of passing a defective gene to their children. Men pass the gene to their daughters, but not their sons.
Do you deal with frequent bouts of tiredness or low energy? Fatigue is a common but often misunderstood symptom of Fabry disease.
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