My Diagnosis Story - Kaye Stephens

Updated: Apr 13

Kaye recently shared her story about being diagnosed with Fabry disease.


What led to your Fabry disease diagnosis?


I had thickening of my heart wall and my medical team wanted to see if it was hereditary, so l went to the genetics clinic for testing. Some blood tests were done and that's when Fabry disease was diagnosed. This was in September 2019, it was a big shock at first but then I came to realise it was something that happened l had no control over! I just have to make sure l get the tests done and see the specialist when required.


I went through all the testing and at this stage (March 2021), the specialist is holding off on treatment but continue to monitor me and the symptoms I experience. I will redo testing later this year to see if anything has changed.


Like many others, I have other health problems, so this can make it more difficult for the specialist to say for certain that the Fabry disease is what's causing a decline in some areas. (I have a muscle disease called myositis and my legs are affected, and definitely getting worse. I also have a hearing loss and Fabry disease can affect the hearing, but they don't know if my deteriorating hearing is from that!!) So I really am a bit of a puzzle!!


My son has also been tested and diagnosed with Fabry disease. The specialist is happy with how he's coping at the moment. My niece also is also believe to have Fabry disease, but hasn't completed all the tests yet.


As my Fabry disease is late onset l have had no symptoms, but as l said my medical problems are definitely getting worse quickly, so l feel that is likely the cause. I am 69, l try to keep active and positive, but it can get you down at times.


Share your Fabry Story with us via email to admin@fabry.com.au

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