Simon's Story

I started on my Fabry story, when at the age of 10 while suffering a high fever I was put into Hospital quarantine.

Everyone including my family had to put on protective gowns, and masks when coming into my glass cubicle. The lasting effects of this were due to glandular fever, or so it was diagnosed at the time. I had crippling pains in my hands and feet; I couldn't exercise, and had to forego my passion for sport. Many specialists looked at my symptoms, with diagnoses of flat feet and latterly metatarsalgia, but somehow ignored the pains in my hands. We gave up seeking an answer after a while and it just became 'Simons hand and foot problem'. Then, in my early 20's, I was struck down by a heart problem; it was initially diagnosed as Paroxysmal Atrial Fibrillation. It basically meant that my heart would start racing at anytime, up to 200 beats per minute. This dangerous condition required me to be cardio-verted back into the correct rhythm.

It wasn’t until two years ago, at the age of 46, I was diagnosed with Fabry Disease, for which I have all the classic signs

My disease has impacted my life in a multitude of ways. As I have said because of the severe pains in my hands and feet, from a young age I was forced me to up give sport almost immediately. I say almost, because I tried to ignore it, even just running around with mates was impossible. I had to sit and watch them for the next 10 years. By my early 20’s I quickly realised drinking alcohol was also something that my body couldn’t handle. The alcohol caused my heart to go into its Atrial Fibrillation and so I had to give it up. I lost the hearing in my right ear at the age of 42 and six months ago hearing in my left. I received my first Cochlear Implant three months ago and am considering having the second one done soon.

I’m now on fortnightly Enzyme Replacement Therapy, which involves spending the day in hospital. It is impossible to tell if it has any effect or not, but it is the only treatment that there is for Fabry Disease. I have weekly GP appointments, plus numerous specialist appointments and scans. Every day my wife has to drive me to wherever I need to go because I’m currently not allowed to drive due to a Trans Ischaemic Attack (mini-stroke) I had in June.

A cure for Fabry Disease would be my dream. But it is unlikely to happen, certainly not in the next few years. I hope that it comes in my daughter’s lifetime.


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