Managing Fabry Disease Requires a Balancing Act
Everyone performs their own balancing act to navigate the many facets of their lives. Most people have competing interests and needs of one kind or another. Finding the middle ground to keep everything in sync can be challenging.
People with complex chronic illnesses like Fabry disease seem to have more to balance than most, and sometimes, maintaining that balance seems impossible.
Fabry disease is inherited, so I have been practicing my balancing act my entire life. For many years, maintaining a balance was easy, like traversing a wooden plank raised off the ground by a couple of concrete blocks. If I fell off, I just got back on the plank unharmed and continued with minor adjustments to my technique.
Over time, managing my disease became more complicated. Now, my balancing act is like balancing on a tightrope high above the ground. Falling can be dangerous, and getting back on the tightrope is more difficult. At the same time, I have become more experienced and confident so that when I stumble, I find a way to recover and regain my balance.
For many years, my legs, mainly my quadriceps, have burned intensely with activity. It started mildly when just climbing stairs or performing specific exercises. I didn’t notice it when running or walking and continued to pass military physical fitness tests until 2007, when I started the military medical retirement process. It gradually progressed to frequent severe burning pain, sometimes just from standing from a sitting position, especially when getting out of a car.
Simultaneously, my lungs have deteriorated from 76% to 47% of their normal function in the last 15 years due to Fabry disease. I never gasp for breath, but I have altered my lifestyle to avoid strenuous physical activities that demand more from my lungs.
It is difficult to determine the exact cause or combination of causes for my chronic pain, chronic fatigue, shortness of breath, and intolerance to heat, strenuous physical activity, and exercise. My obvious choices are congestive heart failure, lung dysfunction, stage 2 chronic kidney disease, a mostly sedentary lifestyle, medication buildup and toxicity from slow metabolism, or other symptoms of Fabry disease.
I routinely need to balance:
- Eating enough healthy high-calorie foods to maintain a healthy weight with eating only heart- and kidney-friendly foods (especially low-potassium and low-sodium foods), along with managing early satiety from Fabry.
- Frequent low blood pressure that gets even lower during biweekly enzyme replacement therapy infusions and when using my CPAP machine for sleep apnea with avoiding actions that could further contribute to dangerous hypotension. Sleep apnea causes me to stop breathing an average of 22 times per hour while sleeping.
- Getting enough sleep to rejuvenate my mind and body and control lower-leg edema from Fabry with managing frequent insomnia that makes getting adequate sleep difficult.
- Taking medications to regulate heart rhythm, reduce proteinuria, and decrease stroke risk from cardiac arrhythmias with managing adverse effects of those medications.
- Managing pain from Fabry with avoiding pain medications that cause me to have an unclear mind, reducing my productivity.
- And last, but not least, my work life and managing Fabry disease with spending enough quality time with my family. My amazing wife, Angela, and our awesome canine kids, Annah and Molly, add a tremendous amount of joy to my life!
Overall, my life is great as long I can successfully manage my many Fabry symptoms. If you see me walking around, you probably won’t notice the manifestations of my disease. They are mostly invisible to others. Just don’t say, “The last one there is a rotten egg!” like we did as kids, because I’ll be last. Despite living a challenging life, which is even more challenging with the pandemic, I have a very gratifying work and family life.
For quite a while, my most significant struggle was deciding when my life was too difficult to manage physically and telling my heart transplant physician that it’s time to get on the transplant list. My physician has always said it’s up to me to decide, until a recent cardiac catheterization with a stress test indicated the time is now.
Aside from the inherent risks of having a transplant, I am not anxious to be out of commission from work or life for too long. In my full-time job as the founder and president of the National Fabry Disease Foundation, many others rely on the work I do to make their lives better.
I’m excited about getting a new heart and the regained energy and physical abilities that should come with it. It’s all part of my balancing act!
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.