Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Professor David Sillence is a specialist physician geneticist. He was instrumental in bringing enzyme replacement therapy (ERT) treatment to Australia as a member of the Federal Government’s Life Saving Drugs Program Advisory Board for Fabry Disease.
“It’s really quite remarkable the progress we’ve made in research and treatment. Australia leads the world for integrated care for people with Fabry.”
Fabry disease is one of a large group of disorders known as lysosomal storage disorders (LSDs). When enzyme replacement therapy (ERT) as a treatment for LSDs was first available, there was no pharmaceutical provider in Australia. There was no Government program for LSD and, in particular, no Fabry treatment. We had to raise money to import it here and treat the first patients. We started treating our first LSD patients in 1993.
When ERT was first funded in Australia, the Federal Government was able to approve treatment under what they called “an act of grace,’ which meant the Health Minister had to approve every individual patient for treatment.
Getting ERT approved on the Pharmaceutical Benefits Scheme (PBS) in 2004 was a landmark for Fabry. I had been a Deputy Chief Medical Officer of the Commonwealth Health department and with the personal support of the chair of the PBS Advisory Committee (PBAC) we obtained support from the Minister for a special program which was called the Lifesaving Drugs Program. Government support has always been bipartisan, subject to evidence of safety and cost-effectiveness.
One of the most significant advances for patients was the setting up of the specialist Genetic Metabolic Medicine service at Westmead Hospital in Sydney. This included Genetic Medicine, Nephrology, Cardiology, Nursing and Special Access pharmacy to care for Fabry patients and to conduct research. My colleagues especially Associate Professor Michel Tchan and the other specialists have investigated the impact of Fabry on the heart and nervous system.
ERT has been quite transforming. When we first started, we had to treat the sickest people, and these patients were already in chronic renal failure or cardiac decline. Now we are treating younger patients and improving their outcomes.
Can Fabry be cured? I’m not sure. We can modify the natural history of these disorders. However, we will have to face some challenging ethical questions, and we will need a health system and Government that sustains support for these expensive treatments.
I’d like to see more early diagnosis of Fabry. As a genetic disorder we can discover it at conception or birth and offer consultation to family members. I’d like to see more empathy for women and younger children with Fabry who may already be symptomatic.