Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Trevor lives in Breamlea on the Victorian surf coast and was diagnosed with Fabry in 2022.
“This condition has made me relook at my life. My heart stopped beating at 50 so it’s been a big wake up call.”
I’ve always been a keen surfer and pretty fit and healthy. Two years ago, I was rushed to hospital for emergency heart surgery. My heart was only working at 20 beats a minute. They inserted a pacemaker to regulate my heart. After a long list of tests, the cardiologist told me I had a rare disease called Fabry. I’d never heard of it before. My Fabry condition was causing an enlarged heart.
Since I’ve been diagnosed my mum has also tested positive. She’s 76 and had kidney issues and high blood pressure for much of her life. She’s also had a pacemaker fitted but never knew it was due to Fabry. I now have a daughter, 13, who has inherited the Fabry condition. I have two other boys and 3 grandchildren who don’t have Fabry.
I was shocked when I got the diagnosis. I live on the beach and surf every day. I’m a big wave and competition surfer. I work as a builder so I’m extremely active. When I turned 50, I started to notice breathing was a bit harder, but I just trained harder thinking I was getting unfit. Then a blood test revealed my heart was under stress.
I was a long-distance runner as a kid and I always thought my low heart rate, about 45 beats a minute then, meant I was good at endurance sports.
I’m now on treatment of fortnightly infusions of enzyme replacement therapy, but I hope to go on an oral treatment next year. It involves taking a tablet every second day and fasting 2 hours before and after, but it’s less inconvenient than infusions.
This condition has made me relook at my life. My heart stopped beating at 50 so it’s been a big wake up call. I’m now trying to live life well by having a good balance of work, family and, of course, surfing. My family and I love travelling and we were hoping to travel around Australia at this stage of life so hopefully next year we can still achieve this goal.
I’m still healthy so it doesn’t seem like I have a disease except for the fact that my organs aren’t working as well as they should. My daughter looks at me and doesn’t see a sick person. She doesn’t have any obvious symptoms yet, but it’s peace of mind that she’s been diagnosed early.