Jerry's Fabry Disease Blog

Keeping the Fabry community informed

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Jerry's Fabry Disease Blog was created to spread awareness about Fabry disease, a rare genetic disorder, and to share news and information about what is happening in the Fabry community. The blog is one component of the National Fabry Disease Foundation's social networking program.

I’ve learned the hard way that immediately assuming Fabry disease is the cause of adverse changes in my health is probably not a good idea, especially when the changes are somewhat sudden or over a relatively short period of time. In one specific instance of rapidly declining health I assumed my disease was just getting worse. Several years ago I was doing pretty well with bi-weekly enzyme replacement therapy (ERT) and with other adjunct therapies to manage pain, to stabilize my heart rhythm, and to control potentially damaging proteinuria. My heart function had improved over several years on ERT and my kidneys were functioning well and stable. Then I began to experience increased fatigue, lack of energy, weakness, and shortness of breath. It progressed over a few months until I could barely function. Assuming it may be my heart, although there was no clear evidence, my cardiologist changed my beta-blocker medication used to control my heart rhythm. Within a short time with a new beta-blocker the extreme symptoms cleared up and I was back to “my normal” in relatively good health. I had taken the previous beta-blocker successfully for several years before I had any trouble. It was a surprise that it became toxic to me (medication toxicity was the medical explanation given at the time). What a relief, my disease didn’t finally beat me as I thought. A few years later on the second beta-blocker, I again had rapidly declining health over a couple of months. I could not walk 25 feet without resting. I had severe shortness of breath. Just bending down to tie my shoes or walking from the car to the house was difficult. I was having trouble with many simple daily activities from severe fatigue and shortness of breath. This time, based on my experience a few years ago, I asked my cardiologist (a different doctor than before) to change my heart medication. He resisted because he was convinced the beta-blocker was not the cause of my new symptoms but somewhat reluctantly changed my medication after several discussions. Again my severe symptoms cleared up quickly and I could function normally again. With my experience with beta-blockers becoming toxic to me, I was prescribed a calcium-channel blocker (CCB) instead of a beta-blocker to manage my heart rhythm. CCBs seem to be less preferred to beta-blockers by many cardiologists to treat the type of structural heart disease common with Fabry disease but they can still be effective. With the CCB the number and duration of cardiac arrhythmias are reduced just as they were initially with the previous beta-blockers. We’ll see what happens after I have been taking the CCB for a while. To further investigate why the beta-blockers became toxic to me over time, I recently had an evaluation to determine how I metabolize some medications. It wasn’t surprising to learn that I don’t metabolize medications very effectively through the body’s pathway that my beta-blockers metabolized through, which is probably why they became toxic to me. The moral of this story is to question changes in our health rather than accept them as the fate of progressing Fabry disease. Luckily Fabry disease progression wasn’t directly responsible for my sudden rapidly declining health during those two events. My medications were the problem! ♦