Raising Awareness of Fabry Disease

Raising Awareness of Fabry Disease
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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 is an inherited and progressive lysosomal storage disorder characterized by specific symptoms that affect various organs and systems in the body.

Researchers estimate that Fabry disease affects about one of every 80,000 live births annually, although overall prevalence might be as high as one in 3,000 considering late-onset diagnoses.

Why is greater awareness important?

Like many other rare diseases, Fabry remains a severely underdiagnosed or misdiagnosed condition, and one often misunderstood.

Most physicians and other healthcare professionals have little knowledge of the disease. As a results, many with Fabry disease can go through life without knowing the underlying cause of their symptoms.

Others receive a diagnosis late in the disease process, after irreversible organ damage has occurred. The sooner a patient receives a diagnosis, the sooner treatment can begin and help to maintain or improve their quality of life.

Increased awareness also tends to bring to greater research support, which could lead to new and better therapies, and possibly a cure.

Fabry disease awareness month

Awareness and education are crucial to increasing the recognition, diagnosis, understanding, and management of Fabry disease.

To that end, Fabry disease awareness month is observed each April. During this time, advocates educate, heighten awareness, and raise funds for Fabry disease care and research.

Monthlong events, organized by the National Fabry Disease Foundation (NFDF), rely on a robust social media presence to spread the word about Fabry disease. In addition to dark blue — the official Fabry color — supporters wear special wristbands, pins, ribbons, and T-shirts, and can display “awareness” magnets on their vehicles. They also use logos, symbols, and slogans presented by the organization to spark conversations about Fabry disease.

The NFDF and the Fabry Support and Information Group also work with community members in each state to obtain as many Fabry disease awareness month proclamations as possible.

Global efforts

Like the NFDF, patient organizations such as the MPS Society in the U.K. work year-round to raise awareness of Fabry disease. And they ramp up these efforts throughout Fabry disease awareness month. This year, for example, the society presented short films showing how Fabry disease affects people’s lives before and after diagnosis, with appropriate treatment and management.

The organization also asked patients and caregivers to share their stories on social media, using the hashtag #FabryAwarenessMonth.

In Spain, Nanbiosis offers an educational Fabry website post each day throughout April.

Nanbiosis, with both the U.S. and U.K. groups mentioned above, is also part of the Fabry International Network, an umbrella organization for some 64 patient associations spanning 52 countries.

Pharmaceutical companies

Companies with or working to develop treatments for Fabry disease also regularly participate in awareness efforts. Amicus Therapeutics, Chiesi Global Rare Diseases, and Takeda, for example, have contributed educational presentations and other resources.

 

Last updated: Aug. 28, 2020

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Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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