I have known about Fabry Disease for over 40 years, when my uncle was the first in our family to be diagnosed. He had been through many years of pain, suffering and misdiagnosis, and eventually was in contact with Mt Sinai in the U.S who were able to make the diagnosis for him. After he was diagnosed all of his extended family were asked if they wanted to be tested. My mum, sister and myself were tested, through blood work and growing DNA from hair follicles – which was not always accurate. My mum and sisters results came back positive, whereas mine were negative.
Around the time my husband and I wanted to start a family, I noticed angiokeratomas (red dots) on my chest and my gut instinct told me these could be Fabry related. I was retested, and this time the results came back positive. We were lucky to blessed with two beautiful girls, and as the thinking at that time was that females were carriers, we were extremely happy. This information changed not long after our girls were born, and our family now understood the symptoms that my mum and sister had suffered from for many years were due to Fabry.
I am fortunate, although I have Fabry disease I only have mild symptoms. Not so my eldest daughter who started having severe pain crisis at age 12 and no amount of medication alleviated her pain. She started on treatment when she was 13 and receives Enzyme Replacement Therapy fortnightly, which has helped with her pain and will hopefully protect her from future symptoms.
I am very lucky to work part time with both Fabry Australia and RVA, two very well organised, and forward thinking organisations. This picture was taken at the RVA Summit in Melbourne, March 2015 - that is me on the left.