Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Gavin and Linda Schmetzer run a grain growing farm in Walgett, NSW. Linda was diagnosed with Fabry disease in 1987. She volunteers as the Treasurer of Fabry Australia.
“Fatigue is the biggest issue. Farm life is busy.”
Linda: My dad emigrated from Portugal when he was 7 and he’d always had health issues and never complained. He suffered a mild stroke at age 40 and by chance his doctor discovered he had swirling streaks in the corneal of the eye, which was a prominent pattern for Fabry. Back then he was one of only 11 people in Australia known to have the disease.
I used to have a lot of pain in my hands and feet, especially when the weather became hotter. Since being on a fortnightly infusion of Fabrazyme I don’t suffer these symptoms as much now.
Fatigue is the biggest issue. Farm life is busy. I help with most aspects of running the farm, looking after stock, office work and cooking meals for workers in sowing and harvest season. I try not to let Fabry affect my life. I’ve been able to come to terms with it and live a mostly normal life. I am very lucky to have great family and friends support.
I have other complex health issues involving heart (related to Fabry), including lungs and Wegener’s granulomatosis, which causes blood flow to organs to be reduced and become inflamed. I had a kidney transplant in 2008 related to this.
When I was first diagnosed with Fabry unfortunately there was no treatment available. Now we have more options available to help patients. I don’t class myself as unlucky.
My hope for the future is that more people with Fabry get offered access to treatment. I hope we have newborn screening to detect it earlier and, through being a part of Fabry Australia, we raise awareness for the disease and its symptoms. It would be amazing too one day know that a cure is found.
Gavin: I’m a carer to Linda, but really, I’m quite lucky that she’s so positive and just gets on with her life, despite her challenges. When Linda has check-ups and tests in Sydney it’s a seven and a half hour drive for us. We run between doctors and clinics with up to eight appointments over three days. It can be quite exhausting for her.
When we have our peak periods on the farm like sowing and harvest, I have to be mindful of Linda’s fatigue.