Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Simon Burrows lives north of Perth, WA. He was diagnosed with Fabry disease in 2012 and has two teenage daughters, both with Fabry.
“You learn to live with it. I’m very philosophical. You live everyday as you can.”
My two teenage daughters are both very sporty and active. I’m hyper-sensitive that when they get sick it may be Fabry-related.
I was 10 when I started having severe neuropathic pain in my hands and feet. My poor mother tried everything to help ease the pain, even cutting the toes out of a pair of slippers for me. It wasn’t until I was 46 that I was diagnosed with Fabry.
I was very sporty in my teens too. I grew up in the UK and used to play tennis for my county. But that all came to a halt when my feet pain got too much.
In my early 20s my heart started playing up. But the symptoms were never connected by doctors to realise it was one condition.
When I emigrated to Australia in 2004 I had to do a medical assessment and that showed a kidney problem. It was thought I had cancer as the kidneys were scarred. My kidneys got worse and eventually I was put on dialysis in 2014. I had a kidney transplant in 2019, but that failed and had to be taken out. I’m now on a wait list for a new kidney.
I was diagnosed with Fabry in 2012. It was initially a massive relief. I thought at last somebody knows what’s going on and they’ll fix it.
I started reading all this horrible stuff on the internet about what’s going to happen, like the average age of death of a male with Fabry was around 40 back then.
As a result of Fabry I lost hearing in both ears. It affects the central nervous system. I had two Cochlear implants fitted to be able to hear again. That’s when my work life ended. I was a concierge in the hotel industry for many years in London and Perth.
You learn to live with it. I’m very philosophical about the whole thing. That sounds horrible, but you just get on with it and live everyday as best as you can.
I’ve been on enzyme replacement therapy (ERT) since my diagnosis. I’m going on a new trial soon to see if a tablet treatment, Galafold, can work with dialysis.
It’s not a nice feeling knowing you’ve passed on a disease to your children, but you just hope they will be asymptomatic and it won’t affect them.
My hope for the future is for my daughters to live a long and healthy life. By the time they have children in decades I hope we have a cure for Fabry.