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.

Many people with Fabry disease have protein in their urine (proteinuria) which must be managed separately. Research indicates managing proteinuria is a critical adjunct therapy along with ERT. After those two primary therapies, managing our other concurrent risk factors is critical. We must manage blood pressure, cholesterol, bradycardia which is common among us, and arrhythmias to name a few issues common with Fabry disease that have an additive adverse effect on our health. It is also critical not to smoke to avoid narrowing the arteries and reducing blood flow even more than Fabry lipid accumulation already does. I’m doing all those things. I receive bi-weekly enzyme replacement. It’s been over 12 years since I started. I take a medication for proteinuria and a medication to control my heart rhythm. I’m fortunate to not have high blood pressure or high cholesterol. I take a blood thinner to avoid blood-clots that can be caused by frequent cardiac arrhythmias and by sleep apnea. Many people are prescribed a daily aspirin but because I’ve had cardiac issues I was prescribed a daily blood thinner instead. I also take several vitamins and supplements including a vitamin D supplement. Vitamin D deficiency seems to be an unusually common problem among people with Fabry disease according to a survey of over 200 adults with Fabry disease the National Fabry Disease Foundation performed. My kidneys and heart are stable despite having had a mild heart attack and a subsequent implanted pacemaker/defibrillator and also having chronic kidney disease (CKD) stage 1 reversed from CKD 3. Medical literature indicates that although ERT “may” halt or slow disease progression in the kidneys, most kidney damage is not reversible so my case is unusual. So, after all of those considerations what do my cardiologist and neurology stroke specialist emphasize beyond the medical interventions to reduce the risk of strokes and further heart problems? To stay strong for the fight they strongly recommend eating a healthy diet, cutting down on sugar and salt, drinking plenty of water, getting enough sleep, and exercising regularly. Admittedly, these are the same things other people have to do to stay as healthy as possible but with a chronic illness like Fabry disease it is even more important. Ironically, these important healthy life-style measures seem to be the hardest to maintain. Because of my chronic overall achiness and other neuropathic pain issues, chronic fatigue, weakness, and shortness of breath, regular exercise is one of my downfalls. Because I am always very busy with work and home life I often don’t get enough sleep. As I become older, not getting enough sleep really adversely affects my health and if I don’t get at least 7 hours a night the edema in my lower legs doesn’t go away from one day to the next. I eat a pretty healthy diet when I make the time but often eat something easy and less healthy thanI should. At the moment, I am on a fairly regular exercise program and will keep trying to improve. I know regular exercise is critical to avoid an even faster progression to an irreversible sedentary state. Eating a healthy diet is hit and miss but it is always on my mind which helps me to continuously make a better effort. After having a hard time using my continuous positive airway pressure (CPAP) machine every night for sleep apnea, I realized it actually helps me sleep longer. It took some time to get used to wearing the face mask while sleeping. When I found out I had Fabry disease at 25 years old, I never thought I would get to be 60 years old. Now that I’m 60 years old I am looking forward to as many more years as possible. Please wish me luck in staying strong for the fight as I look forward to reaching 70. ♦