Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Ross Clark lives on Sydney’s northern beaches and was diagnosed with rare disease Fabry in 1993. He was one of the first NSW residents to receive enzyme replacement therapy treatment.
“All we had to understand the disease back then was two paragraphs from a medical text book.”
I was 27 and just married when I was diagnosed with Fabry in 1993. I was working horrendous hours in IT projects. I had flu symptoms for months and couldn’t get rid of it. I went from doctor to doctor to try find out what was wrong. No one knew what it was. Blood tests revealed my kidneys weren’t functioning properly. And then a kidney biopsy discovered I had Fabry disease. Doctors at St. George Hospital in Sydney had never seen it before.
That led to a lot testing through the family. My mother and my brother both tested positive to Fabry.
All we had to understand the disease back then was two paragraphs from a medical textbook. The doctors told me it would affect every organ in my body and I’d likely be deceased by 40. It was a complete shock.
My mother had read an article in the Australian Women’s Weekly about this rare disease called Fabry. That put me in touch with the first support group Fabry Australia. Their support was invaluable to learn about Fabry and what the future might be.
I was referred to a new metabolic clinic at Westmead Hospital in Sydney in 1997 that was starting to look at Fabry treatments coming out of the USA. I was about the sixth patient in NSW to go on enzyme replacement therapy (ERT), a fortnightly infusion.
We had a daughter Ashleigh in 1998. My wife and I had some genetic counselling after my diagnosis and decided to have children.
Men with Fabry pass on the condition to their daughters 100% as the faulty GLA gene causing Fabry lives on their only X chromosome. It was thought women were just carriers. We have a son and he’s not affected by Fabry.
I’ve made it to 57 but it’s been pretty tough. Fortnightly infusions made me unemployable as they took out a whole day. In those times taking time off work for treatment was unheard of. I went back to work after the transplant but it was difficult and my employer couldn’t understand my situation. So, I was health retired in 2019.
I’ve had a series of health issues arising from my Fabry condition, including kidney failure. I was on dialysis for five years and had a kidney transplant in 2015. Anti-rejection drugs led to ongoing skin cancers and I have had cataract surgeries due to immune suppressant drugs I was taking. I started to have heart issues and had a permanent defibrillator inserted into my body.
I hope we can find easier treatments for Fabry in the future, if not an outright cure. Fortnightly infusions take their toll.