Health Insights

The Spoon Theory and Fabry Disease

Fabry disease can lead to problems at home, school, work, and everyday life. The disorder affects your whole body and can cause intense bouts of pain, a skin rash, and progressive loss of vision, hearing, and kidney functions. Your journey can be overwhelming and difficult to explain. A metaphor…

Genetic Counseling for Fabry Disease

If you or a family member has Fabry disease, you might benefit from genetic counseling. What is genetic counseling? Genetic counselors can talk to you about your risk of inheriting or passing on a genetic disease like Fabry. Your primary care physician can help you get in contact…

Vitamin D Deficiency and Fabry Disease

Fabry disease is a rare genetic disorder caused by a type of fat building up in cells, damaging the heart and kidneys. Vitamin D and Fabry disease The heart problems that Fabry disease causes can make exercise challenging for patients. Combined with an inability to sweat,…

Fabry Disease and Pregnancy

Fabry disease is a rare genetic disorder caused by mutations in a gene called GLA. This gene provides cells with the instructions necessary to make the alpha-galactosidase A enzyme. Without this enzyme, fatty substances called sphingolipids cannot be broken down and build up in tissues, leading…