According to a story from Fabry Disease News, the month of April is recognized as Fabry Disease Awareness Month, a time dedicated to spreading awareness about Fabry disease in the medical community and among the general public. Multiple Fabry disease related organizations are offering activities that can allow supporters to get involved in spreading awareness about this rare disease. The disease is believed to affect one in every 40,000 to 60,000 males around the world; females are affected less frequently and with milder symptoms.
About Fabry Disease
Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about this rare disease, click here.
How to Get Involved
For this year’s awareness month, the Fabry International Network (FIN), has kicked off a challenge called Break a Sweat for Fabry. This challenge highlights one of the unusual signs of the illness: an inability or reduced ability to sweat. Participants are being asked to perform their preferred form of exercise, such as dancing, working out at the gym, or running. Then, they should take a picture of themselves sweating to add on their social media using the hashtag #BreakASweatForFabry with the ‘sweat’ emoji. Click here to learn more.
The National Fabry Disease Foundation (NFDF) has chosen to highlight the event with daily postings of the latest news and facts on their newsletter and their Twitter and Facebook pages. You can also pick up some awareness gear from their website here.
