Our “Recognize And Rescue Everyone” with Fabry disease campaign is the National Fabry Disease Foundation’s umbrella campaign that includes all of our education and awareness efforts and programs to increase recognition and diagnoses of Fabry disease. Its acronym (R.A.R.E.) reminds us of our rare opportunity among other disease communities to recognize and rescue everyone with Fabry disease.
Why is Fabry disease unique among rare diseases?
- Fabry disease is one of the fewer than 6% of approximately 7,000 rare disorders to have a treatment available (in the U.S. a rare disorder is defined by having fewer than 200,000 people affected).
- Fabry disease is among the most studied rare diseases. To date, more than 2,700 peer-reviewed medical articles have been published about various aspects of Fabry disease. More than half have been published since 2003.
- While there is currently only one treatment available in the U.S. and two treatment options available in many other countries, there is a significant amount of ongoing research for additional treatments to include alternative enzyme replacements therapies, chaperone therapy, substrate inhibition therapy and gene therapy.
- There have been large newborn screening studies in Italy, Taiwan, and Austria that indicate the population of people with late-onset Fabry disease is 10-20 times higher than the highest historical prevalence estimates for classic disease.
- Several states in the United States have approved newborn screening programs and are pending implementation. In addition, preliminary data from newborn screening pilot programs indicate a higher prevalence of classic Fabry disease as well as late-onset disease
- Because Fabry disease can affect the entire body, there are many symptoms that offer an opportunity to recognize and diagnose Fabry disease. A surprising percentage of people with: transient ischemic attacks and strokes of unknown causes under the age of 55, left ventricular hypertrophy and cardiomyopathy especially without high blood pressure, overt proteinuria and kidney decline especially without diabetes, and many other symptoms may have Fabry disease as the underlying cause.
- Among the many symptoms of Fabry disease there are two tell-tale signs, corneal whorls and angiokeratoma (skin lesions), that occur in a high percentage of the Fabry disease population and could be easily recognized by physicians with increased physician education programs.
- We believe only a small percentage of people with Fabry disease have been recognized, diagnosed, and have been given an opportunity to receive treatment. Despite the many symptoms and increasing evidence of significantly higher prevalence, education and awareness efforts are lacking. As we and others increase education and awareness programs, we have a great opportunity to find and help those unknowingly suffering from Fabry disease.
WE NEED TO RECOGNIZE AND RESCUE EVERYONE WITH FABRY DISEASE!
Some of the NFDF contributions to Fabry disease education and awareness programs and projects include:
- Our robust educational website
- Our Fabry disease symptoms and inheritance YouTube videos (others to follow)
- Educational pamphlets for targeted physician groups such as our Neurologist pamphlet (others to follow)
- Facilitation of patient participation in on-site physician grand rounds and case studies
- Our patient-implemented “Connecting the Dots” and The “Eyes have It” campaigns to educate dermatologists and eye doctors
- The NFDF educational calendar project (will be revised as an informational booklet)
- The Frequently asked Questions (FAQs) section of our website (under development)
- Educational presentations and publications in various forms
- Our Fabry Disease Awareness Month program to request Governors to proclaim April as Fabry Disease Awareness Month
- … and many more programs to come
Please participate in and share Fabry disease education and awareness programs. Ensure everyone in your immediate and extended family members have been evaluated to determine who may have Fabry disease.