Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Sarah Marsh, 48, lives in Sydney’s Sutherland Shire and manages the local council’s sporting and cultural venues. She was diagnosed with Fabry disease in 2017.
“I hope we can diagnose this early through genetic testing so it won’t be passed onto future generations.”
My daughter was diagnosed first. During a routine eye check-up her ophthalmologist noticed a swirling pattern in her retina, which is a marker for Fabry. She picked it up right away. I tested positive shortly after. My mum probably had it too as she has the same swirling pattern in her eyes, but she was never tested.
When I was diagnosed I was quite shocked and worried, as it’s a rare disease. I wanted to know about Fabry and meet others affected by the disease. I went to conferences organised by Fabry Australia to understand it better and learn from others.
My symptoms have been pretty mild. I get gastrointestinal pain and digestive problems, which is common with Fabry.
I have been having some heart issues lately. But in the grand scheme of things it’s not too bad.
I’m not on treatment but if my organs start having more complications maybe they’ll look at in the future. At the moment I just have a yearly check-up at Westmead Hospital in Sydney.
The treatment is expensive and it’s not something they put you on straight away. It was worrying, but I’ve processed all that now.
My Fabry doctor, Michel Tchan, is great. I really like him. If I have any questions he emails me back quickly. He’s so supportive and really helpful.
I feel like I’ve got the support I need right now. Belonging to the Fabry Australia community means I can learn from others about Fabry and feel supported.
I hope that in the future there’s more oral treatments as an alternative to fortnightly infusions. My daughter Tara and I have a gene mutation that isn’t suitable for the current oral treatments. You need to produce some amount of enzyme for the tablets to work and we don’t produce any enzyme.
I’m also hopeful that with genetic testing we can diagnose this early so this won’t be passed on to next generations.