I Have Fabry Disease. How Long Will I Live?

Fabry disease is a progressive, potentially life-threatening, rare, genetic disorder. Many people with Fabry disease succumb to heart disease, kidney disease, and stroke at relatively young ages.

A common question asked by people diagnosed with Fabry disease is, “How long will I live?”

When I first learned that I have Fabry disease at 25 years old, the published average age of death for an untreated man was 41. I couldn’t find the original publication I read in 1979, but a similar study published in 1990 indicated that prior to renal dialysis and transplantation, “the mean age of death from uraemia [urea in the blood] was 42 years.” For many years, kidney failure was listed as the most common cause of death among people with Fabry disease. Heart disease is now the most common cause.

A cross-sectional study about men published in 2001 by the Journal of Medical Genetics noted that, “The median cumulative survival was 50 years, which represents an approximately 20 year reduction of life span.” Cumulative in this sense refers to the survival of people with Fabry disease, kidney disease, heart disease, and stroke combined.

A 2009 study published in Nature: Genetics in Medicine stated that, “The life expectancy of males with Fabry disease was 58.2 years, compared with 74.7 years in the general population of the United States.”

For women with Fabry disease, the same study said life expectancy was 75.4 years, compared with 80 in the general population.

A more recent study from the Archives of Cardiovascular Diseases indicated that, “Frequent cardiac symptoms include chronotropic incompetence, severe conduction disturbances and arrhythmias, heart failure and sudden death, and cardiovascular complications are currently the leading cause of death at a mean age of 55 years in men and 66 years in women.”

As more is learned about our rare disease, the statistics change, and as treatments improve, we can have more hope to live better and longer. Sadly, many people with Fabry disease still die prematurely, but many others also are living much longer.

The factors that influence our life expectancy include the genetic mutation we each have, other genetic and environmental factors, individual symptoms (which can vary greatly, even among family members who have the same genetic mutation), the age of onset of various symptoms, the severity of symptoms, the age treatment is started, irreversible cell and organ damage before treatment is started, the effectiveness of treatment for each of us, and perhaps other factors.

Although we have various statistics about the life expectancy of people with Fabry disease, each of us individually is not a statistic. Statistics use data gathered from subsets of the Fabry patient population to provide inferences about the whole population. Without regard to statistics, each person with Fabry disease should consider our own Fabry disease symptoms, our health, our disease progression, and our individual prognosis. Based on my experiences, the key to better health and a longer life is to aggressively monitor and manage all of our disease symptoms, side by side with our healthcare providers.

Unlike today, when I first learned I had Fabry disease at 25 years old, no approved treatments were available at the time. It took more than 20 years for the first treatments to be approved. When I read that the average age of death of an untreated man was only 41, I thought about my early demise often. It worried me. Eventually, I learned to keep the statistics in the back of my mind and live my life as well as I could.

Now, the Fabry community has additional approved treatments, including two enzyme replacement therapies (only one is available in the U.S.) and an oral chaperone therapy. Also, one investigational enzyme replacement therapy is pending approval, and researchers are looking at investigational oral substrate reduction therapy and a few investigational gene therapies as solutions. Eventually, every person with Fabry disease will have an approved treatment best suited to their individual needs.

Thankfully, I did not succumb to my disease at 41 years of age, or at 50, or even at 58, as the statistics of the moment had suggested I would. I am 66 years old with classic (also called severe) Fabry disease, and believe I still have many years of life left.

I am recovering well from a heart transplant I had four months ago, but full recovery will take some time. Today, I drove myself to an appointment without having to rely on my wife, Angela, to drive me. Angela has been my greatest blessing. It was the first time since my heart transplant that I have driven my car or gone without her.

Last week, I cleaned our bedroom carpet with our Bissell carpet cleaner. With Fabry disease-related kidney disease, lung disease, rapidly progressing heart failure, weakness, fatigue, and shortness of breath, I couldn’t previously clean the carpet or do many other normal things before. Now, life is good and getting better again.

As my personality always reveals, and as one of my T-shirts indicates, “I am powered by optimism.”

Jerry wearing one of his favorite T-shirts. (Courtesy of Jerry Walter)

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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.