- Pin it
- SubscribeUnsubscribe
- Embed
Andrew Panatti hasn't added a story.
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.
Highlights
See all activity24Activity
Delete media item?
Delete this item from the media gallery? It will also be deleted from any related story update.
Set as ?
The campaign video will appear in social media and email.
The campaign cover picture will appear in social media and email.
The will appear at the top of your campaign page and in social media and email.
Reset ?
It will be removed from the top of your campaign and won't be used as default in social media and email. The will remain in the media gallery.
Embed
Share a link
Delete update
Delete this story update?
Any pictures or videos will remain in the campaign's media gallery.
Report campaign
Report submitted
Thank you. We take reports like yours very seriously. Our goal is to keep the community safe.
Please know that we may contact you for more information, but that we won't notify you personally of our decision. If the campaign remains available within a few days, it's likely that we determined it not to be in violation of our policies.
Thank you. We've already received your previous report. If the campaign remains available within a few days, it's likely that we determined it not to be in violation of our policies.
Tell us about the problem. Please fill in both fields below.
Record a video
Upload a video
Nothing grabs attention for your cause like a personal video. Take a minute or two to record one now. Record a short video message of support. Or upload one from your device. You can preview or redo your video before you post it.
Nothing grabs attention for your cause like a personal video. Upload a short video message of support. Upload a short video message of support. Or record one right now.
- Most effective video length: about a minute.
- Maximum length: 5 min.
- You can preview or redo your video before you post it.
Heads up! The existing video will be replaced.
Email your friends
Join our team
Tell people why our cause matters to you. Your personal message will encourage others to help. Easy, effective, optional.
Say it in video
Short personal videos by supporters like you are incredibly powerful. Record one right now and you'll help us raise more money. Easy, optional, effective.
Add a personal goal
Set a personal fundraising goal. You'll encourage more contributions if you do. And rest easy. There's no obligation to achieve your goal or bad consequences if you don't. Easy, optional, effective.
We have a video!
Video thumbnail
We'd love to show you our campaign video. Want to take a look?
, you're already on the team.