Sonya's Story

Updated: Sep 13

My Father was the first in our family to be diagnosis with Fabry disease. He was 21 when I was born, and I believe he had been diagnosed at that stage. My father passed at aged 62 after kidney and heart conditions. During his life he had a kidney transplant, but it was a heart attack that finally took him – all related to Fabry disease.


As a child I always felt different. Looking back, as a child, I thought everyone else also experienced all the pains, fingers, toes and constant stomach aches. If I had been diagnosed when I was young, and understood the disease, I’d like to think I wouldn’t have felt so different. I may have been able to explain my pain and the symptoms to others and perhaps my suffering may not have been so severe. Perhaps.


I was 24 years old when I had a kidney biopsy to confirm my Fabry diagnosis, but I knew I had the disease as my father, a well-educated man had researched the hell out of Fabry, he was the one who had given me photocopies of information on the disease which was a lot of scientific/medical jargon.


I had Aunt and Uncles (my Fathers siblings) and Grandmother all with Fabry disease, as well as cousins and a half sister who also live with Fabry disease.



Now, I am 58 and fatigue is a major killer for me.


When I need to explain Fabry disease to others, because is it so complex, I suggest they google it!


As a Lysosomal Disorder, it can affect all your body organs and causes terrible fatigue. Most people say they have never heard of it, but if they are really interested, I will send a link from Fabry Australia which explains the disease simply. When I was younger the information was all scientific and exceedingly difficult to understand.

My advice to others - Try your best to live like a person without a disease and deal with its challenges head on.


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