Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Originally from Sydney, Sophie Peel recently moved to Melbourne. She experienced her first Fabry symptoms at 6-years-old and was diagnosed at age 12.
“The diagnosis brought relief as it validated my symptoms”
Growing up I experienced a lot of stomach pain and also felt like my fingers and toes were on fire when I played netball. I went to doctors trying to find out what was causing it, but no one knew.
I wore glasses, and in 2009 an eye specialist picked up the corneal whorls in my eyes. He called my parents out of the room but I could hear him saying, “she has a disease,” which was quite scary and confusing.
There was a lot of uncertainty while I waited the 12 months to get the Fabry diagnosis. It brought relief as it validated my symptoms and helped it to be real and not just something in my head.
My immediate family were tested, and it turned out I have a new ‘de novo’ mutation so I’m the first person in my family to have Fabry.
I missed quite a bit of school as stomach pain would keep me up at night. By the time I got to year 10, my attendance was so low we were concerned I wouldn’t get through the year.
Fortunately in April 2014, while still in high school, I started treatment. Up until then I hadn’t told anyone at school about my diagnosis, but I had to take a day off school each fortnight to get the ERT infusions so I told my closest group of friends. Fabry made me feel quite different when all I really wanted was to fit the mould.
After a few months of treatment I began to notice improvements – much less stomach pain and less burning sensation in my hands and feet.
I still get heavily fatigued so this affects me socially and has also affected my mental health.
My mum and dad were really supportive through my life and diagnosis but I still felt so alone. It’s been incredible to be part of Fabry Australia and meet people who’ve had similar experiences.
I’m hopeful that through research there’ll be more treatment options available to Fabry patients so it doesn’t affect our lives so much. I’m also hopeful that awareness and understanding will increase around Fabry disease in the medical community.