• Welcome to Our Mothership!
    Welcome to Our Mothership!

    Our website remains at the center of our education and outreach programs.

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  • The International Fabry Community
    The International Fabry Community

    Our fight with Fabry Disease does not have geographic boundaries

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  • Did You Know?
    Did You Know?

    The NFDF provides many Fabry community programs?

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  • Patient Reported Outcomes (Pros) Program
    Patient Reported Outcomes (Pros) Program

    We are learning from the PROs … individuals with Fabry disease!

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  • Recognize and Rescue Everyone
    Recognize and Rescue Everyone

    Please participate in our Fabry disease education and awareness initiatives.

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  • Fabry Family Weekend Camp
    Fabry Family Weekend Camp

    … is in September at Victory Junction, Randleman, NC

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  • In Their Honor
    In Their Honor

    Strength, courage, contribution and hope

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  • Welcome to Our Mothership!
  • The International Fabry Community
  • Did You Know?
  • Patient Reported Outcomes (Pros) Program
  • Recognize and Rescue Everyone
  • Fabry Family Weekend Camp
  • In Their Honor

"People, even more than things, have to be restored, renewed, revived, reclaimed, and redeemed; never throw out anyone." -Audrey Hepburn

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. 

 

Fabry Disease Community Announcements

  • The Fabry Community Landscape Handout

    Have you seen The Fabry Community Landscape handout? 

    The Fabry Community Landscape handout written by Jerry Walter provides information that may be helpful to make your journey with Fabry disease easier. 

    To view or print

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  • "My Health Handbook and Emergency Information" Booklet

    We have a great new resource for individuals with Fabry disease!

    We have had many questions and disscussions about what people with Fabry disease should have with them in an emergency. What is the essential

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  • Hooray! We have a color and a ribbon.

    Our official awareness color & ribbon have been a long time coming!

    Over several years various small groups of the Fabry community had many discussions about an official color and an awareness ribbon, mostly on

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Why Early Diagnosis is so Important?

  • Jerry

    Jerry

    • Severe hearing loss/hearing aids: Age 50
    • Heart attack: Age 52
    • Pacemaker/defibrillator implanted: Age 52

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  • Lisa

    Lisa

    • Heart attack: Age 38
    • Stroke: Age 40

     

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  • Becky

    Becky

    • Open heart surgery: Age 44
    • Pacemaker/defibrillator implanted: Age 44

     

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  • Mandy

    Mandy

    • Several transient ischemic attacks in 30s
    • Strokes: Ages 38 and 40

     

    Read More
  • Glen

    Glen

    • Kidney failure/dialysis: Age 33
    • Transplant: Age 34

    Read More
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We Need Your Help

As a IRS 501(c)(3) non-profit support organization we rely on donations from organizations and individuals to provide meaningful support and assistance programs to people/families with Fabry disease. Please give generously!  

DonateNow

Thank you to our corporate and foundation sponsors as well as our many individual donors. Contributions of all sizes add up to make a tremendous difference.

Connect With Us

Do You Have Questions?

Visit our Frequently Asked Questions page to read about common questions related to Fabry disease.

Frequently Asked Questions

Contact Us

Founder's
Corner

We continue to make great progress on finding new ways and improving current ways to support our community. We hope our efforts contribute to making your lives better! Founder and President, Jerry Walter

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Join the Fight
We need You!

Join the fight against Fabry disease! Make your voice count to create positive change for people with Fabry disease and our families. One important way to help is to take our surveys for everyone's benefit. 

Join Us

Our
Supporters

our supporters

We are very grateful for the generous contributions of our corporate, organization, business and individual donors who all make our programs possible. Every size donation matters. 

Supporters

Two Support Organizations

fsig

The Fabry community is fortunate to have two complimentary support organizations providing a diverse set of programs and services. Join the Fabry Support & Information Group also.

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Featured Programs

  • Fabry Disease
    Symptoms

  • Victory
    Junction

  • Family Assistance Program

  • Our YouTube
    Channel

  • Document
    Archives

  • Fabry Disease Publications

  • Find A Doctor
    Database

  • Remembering
    Family & Friends

Featured Resources

Faces of Fabry