Fabry: A Road Less Traveled
— Jerry Walter

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.

I’ve been receiving biweekly infusions of enzyme replacement therapy for Fabry disease for over 20 years, and I had a heart transplant in September 2020. With these two amazing gifts, almost all my Fabry symptoms have improved significantly. Those gains are multifarious and have bettered my quality…

One evening in mid-2008, my wife, Angela, and I were watching television at home and saw an advertisement about Victory Junction, a camp in Randleman, North Carolina. The camp has a race car theme in honor of the late NASCAR driver Adam Petty and serves children with…

Fabry disease (FD) is a genetic condition caused by variants in the GLA gene. This gene instructs the body to produce the alpha-galactosidase A (alpha-Gal A) enzyme, which is necessary for the body to function properly. Low or absent alpha-Gal A enzyme activity can cause a toxic buildup…

When I think of awareness, I think of familiarity with Fabry disease. To me, spreading awareness means providing information and enticing people to learn enough about Fabry that they can recognize the signs in themselves or people they know. Being aware of the symptoms can lead to quicker diagnoses. Additional…

While Fabry disease can involve life-threatening issues such as kidney failure, heart failure, and stroke, other manifestations can also have a big impact on a person’s quality of life. According to an article I co-authored that was published in 2019 in the journal Advances in Therapy, neuropathic pain…

In 2003, when I attended the U.S. Food and Drug Administration (FDA) meeting that would determine whether to approve Fabrazyme (agalsidase beta), which became the first approved treatment developed specifically for Fabry disease in the U.S., I was given an opportunity to make comments to the decision-making panel. Having…

While we all make decisions in our lives, it’s important to think through the consequences of the most significant ones, especially when they involve our health and the COVID-19 pandemic. Living with Fabry disease, a rare and potentially life-threatening disorder, has made many of my decisions more challenging and complex.

Throughout my life, I’ve often put mind over matter to cope with the manifestations of my multisystem disease. I used this mindset during my 27-year military career to meet the rigorous physical demands of military life while managing Fabry symptoms, including: heart disease kidney disease lung disease chronic pain (small…

Millions of adults around the world have hearing loss. Like me, most people have a relative who speaks loudly, turns up the volume on the television, uses closed-captioning on the TV, asks people to repeat everything, and gets close to them to hear what they’re saying. Most of those relatives…

Because April is Fabry Disease Awareness Month, I, along with many organizations and people, help to educate patients, family members, friends, caregivers, healthcare professionals, and the broader population to improve the recognition, diagnosis, understanding, and management of Fabry disease. Since 2012, the Fabry International Network, the U.S. National Fabry Disease…

I never imagined my first episode of irregular heartbeats, or arrhythmias, in the late 1970s would lead to getting a heart transplant decades later. When I had my first episode, I didn’t know I had Fabry disease. I also didn’t know that as a male with classic Fabry…