When you have a rare disease such as Fabry disease, it’s easy to feel alone.
As reported on the National Fabry Disease Foundation’s website, no one really knows how many people are affected by the disease. Nailing down the numbers is complicated by the fact that Fabry is inherited in what’s called “an X-linked recessive pattern.”
ABCs of Y & Z?
An X-linked gene affects males and females differently—mostly because males have one X and one Y chromosome and females have two X chromosomes and no Y chromosomes. X-linked mutations are generally rare in women. An abnormal gene on the X chromosome would have to be passed down from both parents, which lowers the statistical probability. Also, it’s possible for only one of the woman’s two X chromosomes to be altered.
In Fabry, some women who carry the mutation never develop signs and symptoms. Others can exhibit many of its signs and symptoms, which include:
- Episodes of pain, especially in the hands and feet
- Clusters of small dark spots on the skin
- Decreased sweating
- Cloudiness on the cornea of the eye
- Gastrointestinal issues
- Ringing in the ears
The genetic mutation that happens in Fabry means that the body’s not able to break down certain fats. That puts it in the category of diseases called “lysosomal storage disorders.”
And if you have that particular lysosomal storage disease and live anywhere near Dallas, Texas, U.S.A., there’s an event coming up just for you!
The Fabry Support & Information Group is hosting a “Fabry Family Get Together” on October 22 from noon until 3 pm at Seasons 52.
The event will feature plenty of great information from medical experts and other families affected by the condition. The organization is even offering free lunch!
Click here to find out how to register!
