How to find information on Fabry disease symptoms and more

Two upcoming gatherings are reminders about the importance — and availability — of Fabry disease information for those like me who live with the condition.

First up is the 13th annual Fabry Family Education Conference, set for Sept. 20-22 in Greensboro, North Carolina. Close on its heels, Sept. 22-24, is the 12th annual Fabry Family Weekend Camp, for families of children ages 6-16 with Fabry disease, at nearby Victory Junction in Randleman, North Carolina. Both events are sponsored by the National Fabry Disease Foundation (NFDF), of which I’m the founder and president.

Spreading information about Fabry disease is important to me. Each edition of the foundation’s “Fabry Focus” newsletter states that a “better understanding can lead to a better future.” When I first wrote those words, my intention was to inspire others with Fabry to improve their disease understanding so they’d have better and longer lives.

But all the knowledge we accumulate — and there’s a lot of it — helps us monitor and manage our symptoms, communicate better with our healthcare providers, and understand the importance of Fabry-specific treatment.

Continuous learning about Fabry contributed to my improved health and enabled me, at age 68, to have lived far beyond the shortened life expectancy and alarming statistics about possible adverse health events, including heart failure, kidney failure, and stroke. When I was 25 and learned of my diagnosis, the average age of death for an affected male was about 40 years. Life-expectancy statistics have changed several times since those days.

Our Fabry education doesn’t mean we can avoid major adverse events entirely, of course, but we may have a better chance of delaying and surviving them.

Since my heart transplant in September 2020, I’ve been doing well. Diligently monitoring and managing my disease and receiving Fabry-specific treatment contributed to that. Today, staying upright for many more years feels possible, too.

A great number of educational resources are suitable for laypeople, which is what I like to call people outside the medical field. The NFDF, for instance, has developed and distributes nontraditional resources, such as a Fabry educational calendar (for learning about Fabry one day at a time) and a deck of playing cards (for learning about Fabry one card at a time).

The cover page from the National Fabry Disease Foundation’s Educational Symptoms Calendar, which I created and Mike Johnson, who also has Fabry, illustrated. (Courtesy of National Fabry Disease Foundation)

The educational deck of playing cards, which I created. Each card features Fabry facts. (Courtesy of National Fabry Disease Foundation)

In 2021, the NFDF recorded 17 educational webinars by Fabry experts on a variety of disease-related topics; all are available on the homepage of the organization’s website or its YouTube channel.

For further information, well over 5,000 peer-reviewed scientific articles about Fabry are available at PubMed. Laypeople among the registered users of the NFDF website can access some of these publications, which the organization purchased for the Fabry community’s use. Others must be purchased, and even then you might need a medical education to decipher them.

More material that’s easy to understand comes from pharmaceutical companies that are vested in Fabry research and treatment. The NFDF has created space on its website to make some of those resources accessible.

Healthcare providers with Fabry expertise from around the country also hold meetings and develop and distribute their own educational resources. Education also occurs face to face in clinic visits, but as we all know, they’re often too short to thoroughly discuss Fabry’s many manifestations.

Meanwhile, consider registering for the Fabry Family Education Conference and the Fabry Family Weekend Camp. And of course, I encourage you to read this website, Fabry Disease News. The column you’re reading marks my planned return to regular posts for “Fabry: A Road Less Traveled” after a substantial break.

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.