Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Stewart Rintoul was diagnosed with rare disease Fabry at 50. He lives in central western NSW with his wife and carer, Tracy.
“I’m lucky I’ve got such a great carer in my partner Tracy.”
I was diagnosed with Fabry disease after I came back from a 50th birthday party trip in Las Vegas in 2012.
When I got home my body sort of blew up. My kidney function dropped dramatically so my GP referred me to a kidney specialist at Westmead Hospital, Dr Vincent Lee. He suspected Fabry and the test came back positive.
I was very active when I was young and didn’t really think about symptoms. I was often fatigued and missed a lot of school.
I knew it was a lifelong disease with no cure so I was worried about how long I had. Dr Lee said “We’ll just manage it. We’ll work our way through it.” He’s been a Godsend. I’ve really lent on him for support.
I was put onto fortnightly infusions of an enzyme replacement treatment immediately but it didn’t work for me. My kidneys started declining again. I was taken off the treatment and put onto steroids and that reinvigorated everything.
Just when I was improving I got Lupus disease. The doctors said I was one of only 2 people in the world with both Fabry and Lupus.
After that I also contracted fibrosis of the lungs, which was related to my Fabry disease.
My partner Tracy and I intended to retire at 60 and travel. My health changed all that. I couldn’t work and was uninsurable. I now live on a disability pension.
I’m lucky I’ve got such a great carer in Tracy. We moved from Sydney to Bathurst for a quieter life.
I’ve got two sons but they don’t want to know about Fabry. They can’t get it from me. I have two sisters and when I was diagnosed I reached out to them to let them know too, but they didn’t want to get tested. I still don’t know if they’ve got Fabry.
I don’t really have any specific hopes for the future., We just live day-to-day. We take a cruise when we can and just enjoy ourselves quietly.