Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Julie Fitzgerald lives on the Mornington Peninsula in Victoria. She was diagnosed with Fabry disease at age eight. Julie is the author of ‘Faber the Dragon’, a picture book for young Fabry patients.
“I’m in line for a new gene therapy trial. I’m doing it for the next generation.”
I was diagnosed as a carrier of Fabry disease as a child. I was never really concerned about it as it was thought that women were just carriers and not affected.
At 23 I planned to move to the US and had to do a medical. They found protein in my urine and after an investigation through a kidney biopsy the doctors discovered I had a mutation of the Fabry gene and I actually had Fabry disease and not just a carrier.
I didn’t do anything about it after that diagnosis until I planned to have children. I had genetic counselling to understand my options. I had two children and neither have Fabry. I was so lucky. What a blessing.
I never ever wanted to pass on Fabry. I have the classic mutation of Fabry. I saw my uncles struggle and felt there was nothing I could do. My grandmother and mother both had Fabry and my sister also has it.
Back then it was so much more fearful as it was an awful disease with no treatments. Today there’s a number of treatments and many more options coming out.
I used to get burning hands and feet as a symptom but since I’ve been on enzyme replacement therapy it’s been a lot better. I’m also on a new clinical trial for another treatment being developed in Israel based on caffeine. I’m the only Fabry patient in Australia on the trial and the company is trying to get FDA approval in the US.
My treatment is helping with organ decline. The test results look really good.
I try to not let Fabry affect my life. The fortnightly infusions are inconvenient but it’s not a huge inconvenience in the bigger picture.
The medical researchers are coming out with new treatments and options now. It’s positive. My Fabry team at Royal Melbourne hospital, Kathy Nicholls, Donna and Liz, are amazing.
My partner is very supportive too. He’s a nurse and understands chronic illnesses.
I’m currently on enzyme replacement therapy but I’m in line for a gene therapy trial that shows promising results. It’s a one-off infusion into your DNA. They hope it will last a lifetime. We are the guinea pigs. I’m doing it for the next generation.