Research has shown that newborn screening can effectively detect Fabry disease in infants. Still, more efforts are necessary to expand such screening in the U.S. and elsewhere. You may find the following information useful as you learn more about newborn screening for Fabry disease. What is Fabry disease? Fabry disease…
Raising awareness of rare chronic disorders such as Fabry disease could mean more patients benefiting from earlier diagnosis and treatment. Here are some points about Fabry disease, and efforts to make it more widely known. What is Fabry disease? One of about 7,000 known rare diseases, Fabry…
There are various blood tests that doctors can use to diagnose Fabry disease, a progressive genetic disorder caused by a mutation in the GLA gene. It can be confusing for patients and their families to understand what doctors are looking for and what the test results might…
It can be very stressful — and dispiriting — to live with a rare chronic disorder such as Fabry disease, which leads to symptoms ranging from kidney and heart disease to eye and stomach problems. One way to help cope is through a practice called mindfulness. What is…
Because Fabry disease affects multiple organs, patients are well advised to keep a comprehensive and personal treatment plan. Here’s what you should know about such a plan, including how to work with your primary physician to create one. What is a treatment plan? A treatment plan is a clear,…
If you have Fabry disease, you should consider joining the Fabry Registry. Among other benefits, the information you can provide may help scientists develop new treatments for the genetic disorder. About the Fabry Registry The Fabry Registry is the largest international patient registry database dedicated to Fabry…
Fabry disease is a rare genetic disorder that is caused by mutations in the GLA gene. The body uses the instructions that this gene provides to make an enzyme (alpha-galactosidase A) that breaks down fatty substances called globotriaosylceramide (Gb3 or GL-3). Mutations in GLA mean that the enzyme cannot…
Genetic mutations that result in the buildup of fatty molecules called globotriaosylceramide (Gb3 or Gl-3) are the cause of Fabry disease. This accumulation damages cells and leads to problems in various tissues, including the eyes. Many of the symptoms of Fabry disease are similar to those of other…
There is currently no cure for Fabry disease, a rare genetic condition characterized by the buildup of a molecule called globotriaosylceramide (Gb3 or Gl-3) within cells. Researchers are working to find potential new treatments for the disease. One way that people with Fabry disease can help in this…
One way to confirm a diagnosis of Fabry disease is through genetic testing. What is genetic testing? Genetic testing is a medical test to determine whether a person has changes in their genes or chromosomes that could be disease causing. Your doctor will discuss with you whether…
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