April is recognized as Fabry Disease Awareness Month by the Fabry community in the US and several other countries around the world. Advocacy groups such as the Fabry Support & Information Group and the National Fabry Disease Foundation work each year to get state governors to issue their own proclamations about the event, but currently not all states have an official program.
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 the disease, click here.
Spreading Awareness
In past years, the National Fabry Disease Foundation has posted every day on social media during the month of April to help spread awareness about this rare disease, which, like many rare diseases, continues to be under-diagnosed and poorly understood among the general public and even the medical community. Far too many patients continue to live without a diagnosis or only receive one after severe, life-threatening organ damage has occurred.
Given the current coronavirus/COVID-19 pandemic, the ability to conduct any in-person events for Fabry Disease Awareness Month is effectively impossible. However, you can still do your part to spread awareness about this disease online. You can also access awareness materials from the National Fabry Disease Foundation website here.
