Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Teena Rabjohns lives on the Queensland south coast and was diagnosed with Fabry at 22 years old.
“I had a head start on my Fabry being picked up and treated, much earlier than my Mum.”
We have two children, Clare and Spencer, who has Fabry and autism (non-verbal). He’s a beautiful human, given what he has been dealt, and she is an amazing younger sister.
My mother had Fabry. My oldest brother, his daughter and I also have Fabry. He passed away in 1997 and mum passed in 2016 from Fabry and breast cancer.
I was diagnosed in 1986 when I was 22. I had a general eye check-up and my Mum was with me for the appointment. My regular optometrist wasn’t available, so I saw another, and she picked up the swirls in my retina. She asked to look at my mum’s eyes. When she examined mum she found the same swirls, which were more advanced. The optometrist thought it could be this rare disease called Fabry, but when she referred us to a specialist, he disagreed, and she wasn’t satisfied with that diagnosis.
She then referred me to a brilliant man in the optometry department at Queensland University of Technology, Professor Peter Swan. He completed a number of tests and thought we could both have Fabry disease. He asked to take 100 hair follicle samples from both of us, which was then sent to a lab for genetic testing to confirm we had Fabry.
I’m eternally grateful to Professor Swan. If it wasn’t for him, we’d never have known we had this rare disease.
My brother was constantly unwell his whole life. After my diagnosis they tested him and he was found to be positive to Fabry too.
He was overjoyed because he finally had an explanation for his constant pain that he had carried his entire life without knowing what it was.
I’ve been very lucky. At 22 when I was diagnosed, I was incredibly fit. I wasn’t suffering from any symptoms. I really haven’t had any major symptoms and lived a pretty normal life until I turned 50.
I felt like it was time to investigate this more. My symptoms now are vertigo and swelling in the hands, feet and lower legs. The main impact is fatigue. I just don’t have the energy now I used to have. I’ve just turned 60 and I’m not a fit 60 year old.
But I feel incredibly blessed and grateful to be on fortnightly infusions. I have a hole in my heart, so my Fabry specialist Dr Charles Denaro checks that regularly. I started enzyme replacement therapy treatment in 2022.
I hope we can find a cure for Fabry. I had a head start with my Fabry being picked up and treated, as opposed to mum who had a son that was constantly told he was a hypochondriac. I knew I had Fabry at 22, but mum only found out at 52.