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A Fabry Inspiration

I am now 46 years old. For 40 years I was healthy and I thought there was nothing wrong but on 16 September 2012, surprisingly I had a #HeartAttack. It was a surprise because the previous day co-indecently I had my first general check-up since turning forty. The doctor found nothing wrong, my cholesterol was slightly high but not high enough to take medication, he recommended that I just make adjustments to my diet. The next morning we met each other in the hospital under different circumstances…

At that stage I weighed 95kg and I smoked for 20 years. My conclusion was that I need to make drastic changes to my lifestyle. This correlated with the doctor’s recommendation. I stopped smoking immediately and after a few months I embarked on a process of losing weight. I started by walking and then gratually start running short distances at first. Initially I ran for a minute and walked for 2minutes, by 2015 I ran 20km for practice. The first time I ran for 5km without stopping it was a major accomplishment.

I had an amputation, since birth, of my left arm just below the elbow, called a natural amputation. As a result I was classified as disabled and between 2000 and 2011 I played disabled golf. The best I did was to play with one hand off a 8 handicap. Although I participated in multiple disabled golf championships, and won my division a number of times, I enjoyed playing normal golf with able-body players the most. In 2011 I lost interest in golf and stopped playing all together, and it was partly as a result of the inactivity that I gained weight.

In August 2013 I started mountain biking together with the running. I entered some running and cycling events. As a child I learnt to swim with one arm and later as I got fit I could do triathlons. I participated in the disabled triathlon events as well. I enjoyed the off-road Xterra triathlons the most.

From 2013 to 2015 I participated in a couple of marathons in Secunda, the 50km Mont-Aux-Source trail run and the 3-day Golden gate challenge. In cycling my first formal event was the half marathon at Barberton. In 2015 I did their 105km ultra-marathon in preparation for the 361km event in Oudtshoorn. The highlight of my races was the full Ironman that I completed in April 2015.

I was training for the 2016 event which I already entered when I got a big stroke in November 2015. I was in hospital from 25 November until end of December and thereafter in a rehabilitation centre until end of February 2016. Initially I thought that I would still be able to participate in the 2016 Ironman event but it only later dawned on me that this will not be possible. I had to learn how to talk, how to swallow and how to walk again. Getting on a bicycle was not something that I would do easily at that stage.

When I was in hospital Dr. Terblanche send a blood sample to Germany to be tested as he was suspicious that I had a stroke and heart attack before 50 and at the time I was fit and healthy. After February the results came back positive. This was the first time in 10 years that he had a #Fabry patient.

I never had any of the stated Fabry symptoms. Subsequently I get enzymes every two weeks to prevent the symptoms in future.

After I had returned home after the stroke, I started seeing a psychologist. She determined that I was depressed and after several sessions we released that the symptoms started after the heart attack already. Now that I know that the reason behind the heart attack and stroke was rather caused by a genetic disease, I can deal with it better.

Although I am not 100% recovered after the stroke, I am able to run and cycle again. Not yet the Ironman, but I am grateful that I can do much more than a year ago. I do not see the diagnosis as a death sentence but rather knowledge that I now have and can manage.

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