Tell us about your diagnosis journey. What led to your diagnosis? How did you research or learn about Fabry disease?
My sister was diagnosed after years of searching for answers to her symptoms. We felt sure mum would test positive, so she was tested next. However, to our surprise she didn’t. Which meant that my sister had inherited this disease from our father which meant I would also test positive. My testing was merely a formality and results came back quickly. I knew very little about the disease, my sister had filled me in the best she knew how as it was relatively new to her too. We quickly realised that her son, who had died suddenly at the age of 29, would also have tested positive to Fabry. No one else in our family has tested positive, though not all have been tested, and that’s their choice.
What do you find most challenging with your diagnosis?
It’s difficult to go from thinking you’re a relatively healthy person one day to being told you have an incurable rare disease the next. It was quite a shock. For me, the most challenging thing is trying to explain the disease to others. The symptoms are so vague and varied that even though I have a positive diagnosis, I’m sure people think I’m just a hypochondriac.
How do you explain Fabry disease to others? Work colleagues, extended family or friends.
It’s a rare genetic disease that can affect any of the major organs in the body.
Inevitably their response is: “I’ve never heard of it”, to which I reply, don’t worry most of the doctors in Australia haven’t either.
How has meeting others with Fabry disease helped you?
It has really saved my sanity. It’s funny because it’s like we automatically have a bond because we have this rare thing in common and there’s an unspoken understanding, we have for each other. I’m not sure how well I’d cope without my Fabry family.
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