Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Elizabeth Centra is a Nurse Co-ordinator for patients with Fabry disease at the Royal Melbourne Hospital. She’s been co-ordinating treatment and providing support for Fabry patients since 2000.
“It’s a big job for patients to come to hospital to get all the tests done and talk to the specialists.”
I’ve been working with Fabry patients since 2000 when the first clinical trials of Fabry treatment became available. I hadn’t even heard of Fabry then.
We now have about 130 patients in the Renal clinic at Royal Melbourne. My role is to co-ordinate all the appointments, tests and treatments for those patients.
Patients travel from country areas so most of the testing is done on the day of the clinic to minimise the number of times they need to come to hospital.
Patients who are on treatment do a series of tests to see how they are progressing- ECGs, Echocardiograms, brain MRIs, blood tests etc. Those who are not on treatment are still closely monitored to see if they need specific treatment under the Government’s Life Saving Drug program. I prepare the applications which can be exhaustive, but it may be the only option for patients as the treatment is very expensive.
I organise home infusions and liaise with hospital pharmacists and doctors. We also test family members to identify if they have Fabry as well.
Patients from some other states that I have met say they don’t have someone to organise all the things a Fabry patient needs. It’s a multi-system disease that affects many organs, so you need a co-ordinated approach. I really feel for these patients because it’s a big job to come to hospital and get all the tests done and talk to the specialists to know how they’re progressing.
When you’re newly diagnosed it’s quite a lot to get your head around. People just don’t hear about rare diseases.
Over the years I have built a close relationship with Fabry patients.
I find it fascinating how people engage with a rare disease differently. Some patients don‘t want to know about their Fabry. Other patients are enthusiastic about doing something about it. They want to know how they’re progressing, and they are diligent with hospital visits and doing what’s needed. They ask about what their quality of life will be like. They want to know about the future and new treatments being discovered.
I think the future is very bright. Treatments are improving so fast. We’ve gone from having no treatments 25 years ago to having several treatments and new clinical trials in gene therapy today. My message is that there are good things coming.
The patient support group Fabry Australia is very important. Patients can talk to others going through the same experience and not feel like they’re alone.
I hope that more people learn about rare diseases, not just Fabry. There are several million people living with a rare disease in Australia, so we need more education for doctors and the community.