Jerry Walter and Fabry Disease ... one path, one perspective, one promise

As I began writing this article on a flight from Washington, DC to Raleigh-Durham, NC, I looked out of the aircraft window just after take-off. Below us I saw the Pentagon, where I was working on September 11, 2001, and the Arlington National Cemetery where friends were buried following the 9/11 tragedy and other recent tragic events. For a few moments I stopped thinking about my life and the lives of others with Fabry disease. As I have done many times before, I thought about how unpredictable life can be. Colonel Canfield (Bud) Boone, who I spoke with about a week before he was killed by the airplane that crashed into the Pentagon, wasn't the one I expected to be taken early in life. Then, as a 46 year old male with Fabry disease, I thought it was me who was destined to die young. A year later in November 2002, I began enzyme replacement therapy as part of a clinical trial. Now, my expectation of passing early in life is not completely gone, but I have a very good feeling about being around for many years to come.

I grew up in a large family with six brothers and one sister. The neighborhood we lived in until I was 16 years old was full of other families who also had more male children than female children. The result of this trend, needless to say, was an environment filled with showmanship, competition, and a great deal of adolescent testosterone. Being the first to have Fabry disease among the oldest four boys in our family, I was challenged by this environment to keep up physically. Of course, I usually didn't. In the neighborhood, there were always opportunities to participate in group sports and games. I enjoyed them but often played somewhat reluctantly because of the inevitable outcome. I never lasted as long playing sports as my brothers and most of the neighborhood kids. Similarly, as my brothers and friends participated in school sports, I didn't quite meet the expectations I set for myself. I achieved some small successes, but the results of my physical activities usually left me feeling tired, overheated, achy, stressed, in pain, and having low self esteem. After me, all three of my youngest brothers and my sister also have Fabry disease. For the boys, I predicted they would have many of the same issues I experienced, and they did.

We didn't know about Fabry disease in my childhood but I sent plenty of signals that I was a member of the "Fabry club". My credentials for membership included burning pain in my hands and feet, heat intolerance, very little if any sweating, overheating, frequent unexplained high fevers, exercise intolerance and school avoidance. In my senior year of high school, I missed more days of school than any other student and was lucky to graduate. I wouldn't mention this embarrassing piece of trivia except that school avoidance seems to be quite common among children with Fabry disease. My memories are not that clear about the reasons for all of the days I missed school but I remember feeling bad a lot.

A turning point in my life was joining the Air Force at age 18 despite my poor physical conditioning, limiting disease symptoms, and apparent lack of discipline based on my school attendance. I weighed 126 pounds and could hardly run a quarter of a mile when I signed up. Upon completing basic training with some difficulty, I began to be successful in my jobs at increasing levels of responsibility. For the first time in my life, I began to realize there were things that I could work hard at and be successful. Starting small, I accepted one challenge after the other. I sought and created new opportunities for success. Somehow I convinced myself that the reward was better than the pain it took to get there. When I needed to, I found ways to avoid the things I just couldn't do because of Fabry disease.

I left the military in 1980 after seven and a half years of service. Beginning with a very different attitude than my high school days, I went to college at Michigan State University in 1985. While in college in 1986 I joined the Army National Guard as a weekend soldier to earn extra money. My interest in the Guard led to my attending the three and a half month Army officer commissioning program at Fort Benning, Georgia to broaden my career options. My greatest physical challenge yet, attending the Army Officer Candidate School at age 32 was an experience I'll never forget. This was truly a case of "what doesn't kill you makes you stronger". During this time, overheating due to the inability to sweat, bouts of traumatic edema in my legs, and other Fabry disease symptoms were a huge problem in the military environment. There were many dificult challenges. The lowest points of my officer candidate training were having to run five miles the morning after spending four days in the hospital with traumatic edema in my lower legs, and becoming severely overheated and losing control of my bodily functions by the end of a fifteen mile forced road march. But somehow, due an increased appetite for success from my earlier military days, my competitive nature from growing up with all those boys, and probably a little divine intervention, I survived that experience. I was commissioned as a Second Lieutenant in the United States Army. Luckily for me, after the first few years as an Army engineer officer and a few more difficult training experiences, most of my remaining military career involved sitting behind a desk. In 1994, I returned to active duty service. Even though I knew that Fabry disease and the military were like mixing oil and water, I was still convinced I could be more stubborn than the disease. During the next thirteen years of active duty Army life, I was still required to meet minimum physical fitness standards. But again, when I needed to, I was able to avoid the most physically demanding situations that I couldn't endure.

Now, a Colonel in the Army whose last job was managing a multi-million dollar nationwide environmental program, I have continued to have career successes and have an even more impressive array of Fabry disease symptoms to manage. My major issues now are some heart damage with left ventricular hypertrophy and arrhythmias, pulmonary obstruction and shortness of breath, continued GI issues although improved somewhat by enzyme replacement therapy, continued frequent shooting and burning pains, poor sweating and overheating, Raynaud's syndrome, severe hearing loss, increasingly loud tinnitus, muscle fatigue, and general fatigue. Despite all of this, I really have little to complain about in the grand scheme. I'm just providing some insight into who I am and the path I have taken.

My perspective on life is fairly simple. We (individuals with Fabry disease) are not alone with our brand of life's injustices. Everyone seems to have something. Some people's situations and conditions are much better than ours and some are much worse. Even within our community, some of us have much worse Fabry disease symptoms and effects than others. Many, including my younger brother Ken, my Uncle Leo and we suspect my cousin Sharon, lost their lives at a very early age due to this disease. While common symptoms affect us, the disease manifests itself in many different ways and at differing levels of severity. Even for those with seemingly milder symptoms, there is no way to avoid the fact that for those affected, this is a progressive and destructive disease from birth.

I don't think we should spend our time worrying about why we have Fabry disease. We probably also shouldn't spend too much time worrying about what will happen next. In my opinion, we should do everything we can to be as happy and as healthy as possible despite this disease. Having said that, please don't misunderstand my message. Not worrying too much about things we can't change doesn't mean not managing our disease or our overall health. Participatory management is one of the most important things we can all do. It is our job along with our physician's job to understand our disease; to ensure we get the right periodic exams and labs; to exercise daily; to eat healthily; to take prescribed medicines, vitamins and supplements when appropriate; to drink plenty of water, and above all to start enzyme replacement therapy as early as possible according to our physicians' recommendations. We must make good choices while we are in charge. At some point during the progression of our disease, our choices are driven by the damage inflicted on our bodies. Much organ and tissue damage can be avoided with enzyme replacement therapy but once damage occurs, the damage may not be reversible. Personally, I have changed my habits over time. I can't run any longer so I ride a bike or walk to get exercise; I drink decaffeinated drinks and eat more fish and chicken than beef. I drink more water and I take my prescribed medicines and appropriate vitamins and nutritional supplements every day. I monitor my health and get my regular exams and labs done according to the minimum schedule of recommended assessments; I report changes to my doctor, and I never miss an infusion.

I also believe we should live life to the fullest in spite of our disease. We need to talk to our doctors and be safe, but I believe we should try things, have fun, and create great memories. We should accept the help and advice of friends and family but try not to be overly cautious and cheat ourselves out of life's experiences. Our loved ones can be protective because they are concerned for us but we shouldn't be self-limiting. The disease will do that job. We need to check with our doctors and don't take chances, but we should work, live and play as hard as we are able.

You have read a little about me, the path I've taken, my perspective on life, and now I offer my promise. To my family, my friends, and especially to my dear wife who inspires me and gives me great strength and a desire to live forever, I promise to do all that I can to stay healthy. To the Fabry community, I promise to do the best that I can to be a community leader and a formidable force to ensure increased efforts and improved support to the Fabry community. We have come a long way in the fight against this disease thanks to many courageous individuals and families, clinical trial participants, researchers, investors, physicians, healthcare advocates, support organizations, and the efforts of so many others.

I am especially happy today about the opportunity I have to play a key role in the formation of the National Fabry Disease Foundation. My previous career of 25 years of active duty military service was both challenging and rewarding. This career feels like it is what I was meant to do with my life! There is so much work still to be done.

Lastly, in case this message was lost in describing my personal challanges of living with Fabry disease, I have had a great life. Despite all of the obstacles with having a chronic illness, and even if an unexpected tragedy happened, I could go feeling like I lived a full, meaningful life. Of course, I am not volunteering to miss any of the great things to come. I'll continue to do my part. I'll stay as healthy as I can, respectful of my disease, living life to the fullest, and thankful for my extremely good fortune. After all, I'm a 55 year old Fabry male with a future!

Thanks for reading my story.

Jerry Walter
Founder and President
National Fabry Disease Foundation