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Facing the future with Fabry
£970 raised
97% of £1k goal
24 contributors
0 days left
Ended Sep 14, 2014
Simon is my partners brother and a good friend. Last November Simon was diagnosed with Fabry - after 37 years of illness and no diagnosis! My son Toby came up with the idea of running a Half Marathon to raise money to give to Simon and his family, ...

Simon is my partners brother and a good friend.

Last November Simon was diagnosed with Fabry - after 37 years of illness and no diagnosis!

My son Toby came up with the idea of running a Half Marathon to raise money to give to Simon and his family, so they can do something special. So that's what we're setting out to achieve. My sons Toby, Ben and myself are going to run in the Hackney Half Marathon on June 22nd, to raise funds and awareness of Fabrys. Simon, like most people is very proud and does not know we are going to do this for him, but we want to show him how much we care and want to help.

In Simon's own words

I'm now 47 and was was diagnosed with Fabry Disease six months ago.

“The journey to diagnosis for me has taken 37 years. I first started experiencing pain in my hands in feet when I was ten, and since that time I’ve experienced serious heart and kidney problems, and have just discovered that I’ve had a series of mini-strokes as well. My next step is kidney dialysis and enzyme replacement therapy,” he said.

“Finding out I had Fabry Disease was a shock and a frustration. I had never heard of it; nor had my GP or a couple of the specialists that I am seeing. My mission now is to increase awareness about this condition amongst the medical and wider community, so that others don’t have the suffering and experience that I’ve had. ”

“Fortunately, my sister does not have the condition and her son will also be free of the disease but the next step is for us to have our 2 daughters tested. No parent wants to pass on a serious condition like this to their kids, so we are understandably anxious, but at the same time, I am a positive person and I’m confident about the future,” he said.

Simon - born in the UK now lives in Australia.

There are an estimated 300-400 people living in Australia with Fabry Disease, and approximately 100 remain undiagnosed. There is no cure for Fabry Disease, but early diagnosis and prompt access to treatments can significantly extend lifespan and improve quality of life but sadly the 37 years to diagnose Simon have left him with a higher chance of premature death.

It’s the commonality of symptoms with a range of other conditions that can result in a delayed diagnosis.

You might start out having shooting pain in the feet and hands. Your body might not sweat properly and overheat, particularly during exercise. You may notice an odd red rash around the swimming trunk area, or experience diarrhea and abdominal pain. All of which Simon has suffered with over the years.

These symptoms can be misdiagnosed as arthritis, lupus, growing pains, appendicitis or a stomach bug, and can be particularly tricky for a GP to diagnose. Kids may get labelled as wimps who don’t like sport. For some people, the journey to a specialist clinic can literally take years - as in Simon's case

Fabry Disease is classified rare with a prevalence of 1:117,000.  Someone living with Fabry Disease has deficient levels of an enzyme essential in the breakdown of waste products in the lysosomes of cells within the body. This leads to a build-up of lipid substances which progressively leads to organ damage.

At its most serious, the accumulation of waste can lead to problems with circulation and a higher risk of kidney failure, stroke and heart attack.

As Fabry Disease is largely inherited, it affects families. It is important for the extended family to be tested when a diagnosis is made. 

Our family is effected because Simon, his wife Melina and his 2 daughters are effected and we want to help make the life Simon has left as care free as possible.

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