Raising awareness of Fabry disease is crucial to improving quality of life
Furthering our understanding isn't just important during the awareness month
Sharing my experiences with Fabry disease and spreading awareness of the condition are top priorities for me.
Since Fabry disease was first described in 1898, researchers and advocates have worked to achieve a better understanding of the disease, improve how it’s managed, get new treatments approved, and find effective adjunct therapies. While this complex condition’s history involves many successes, there have also been many disappointments, and many critical aspects of Fabry still aren’t well understood.
Today in the U.S., there are two approved enzyme replacement therapies and one approved oral chaperone therapy for Fabry patients. These treatments can be life-changing, and in some cases, lifesaving. Promising investigational substrate reduction therapy and gene therapy may provide options one day, hopefully allowing all patients to find a treatment that works for them.
In my opinion, ultimate success would mean that everyone with Fabry disease is recognized, diagnosed, informed, and treated, enabling them to avoid disease manifestations that diminish quality of life and have life-threatening consequences. All of these steps are essential to helping people make disease management and treatment decisions, for themselves or their children, as early as possible.
Promoting Fabry education, this month and always
Jerry Walter holds the Fabry Disease Awareness Month proclamation signed by Gov. Roy Cooper of North Carolina. (Courtesy of Jerry Walter)
This month has special significance to me personally and professionally, given my role as president of the National Fabry Disease Foundation (NFDF). April is Fabry Disease Awareness Month, established in 2012 and recognized in several countries, including the U.S. International Fabry Women’s Day, initiated in 2005 by the Fabry Support & Informatie Groep Nederland, will be celebrated on April 6 this year.
My NFDF teammates, Casey McKenna and Hannah Prince Sawyers, and I are committed to promoting Fabry education and awareness year-round. However, April, with its amplified focus on Fabry disease awareness, inspires us to share new information and tools. We hope these resources will help people better understand and manage their disease, with the goal of living better and longer lives.
Two of the NFDF’s key mantras — “Fighting Fabry disease for better and longer lives” and “A better understanding can lead to a better future” — represent a significant component of the NFDF’s and my purpose. The latter mantra is printed near the top of each issue of the NFDF’s periodic Fabry Focus e-newsletter to emphasize its importance.
A search for “Fabry disease” on PubMed (a free database where users can search for biomedical and life sciences literature) yields nearly 6,000 results. Even after 126 years of learning about Fabry disease, researchers continuously share new and revised information to improve understanding, management, and treatment of the condition.
This research may focus on:
- The many manifestations of Fabry disease, which vary greatly among patients
- The classification of more than 1,000 known GLA gene variants
- Which variants are disease-causing (pathogenic) and which are benign (nonpathogenic)
- Which pathogenic variants cause classic Fabry disease and which cause late-onset disease
- The variant classifications that aren’t understood enough for patients to make informed management and treatment decisions.
Being undiagnosed can interfere with a person’s ability to access appropriate management and treatment options, but so can a delayed diagnosis, a misdiagnosis, or a misinterpreted variant classification. Some Fabry manifestations, especially in the heart and kidneys, can result in irreversible damage if not treated in time, possibly leading to premature kidney failure, heart attacks, heart failure, and stroke.
All of these factors validate the importance of Fabry disease education and awareness, as well as the additional efforts our community undertakes during Fabry Disease Awareness Month.
Awareness resources
Listed below are the NFDF’s contributions to increasing Fabry education and awareness this month. Throughout April, our organization will distribute both traditional and nontraditional resources in easily accessible formats. To receive announcements about resource distribution, follow the NFDF on Facebook or subscribe to our Fabry Focus e-newsletter.
The Fabry disease community ribbon. (Courtesy of Jerry Walter)
Resources include:
- Photos of governors’ proclamations of the awareness month
- A new, more comprehensive, educational Fabry symptoms presentation
- A new educational Fabry symptoms calendar
- A searchable list of links to the NFDF’s 52 educational YouTube videos
- A searchable list of links to the NFDF’s Fabry Facts playing card deck
- A summary chart of the five primary Fabry financial assistance programs
- A chart of the sponsored (cost-free) Fabry testing programs known to the NFDF
- A webinar on April 8 that will provide information about the 2024 NFDF conference and camp
- A Fabry educational crossword puzzle
- A Fabry word search
- A Fabry hidden word puzzle
- And other important snippets of information.
I’m grateful to the many people and organizations that give people with Fabry disease the chance to live better and longer lives!
Note: 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. The opinions expressed in this column are not those of Fabry Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Fabry disease.
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