Firstly, I would like to acknowledge the traditional owners of the land on which we are meeting. I pay my respects to their Elders, past and present, and to the Elders from other communities who may be here today. I also would like to dedicate this testimony to my late brother Graeme, without whose diagnosis we might never had known we had Fabry Disease.
Today I am going to touch briefly on themes of Isolation and Denial from a personal perspective and how the diagnosis of Fabry disease has impacted on my life and the lives of my family since diagnosis. You may find some parallels with your own unique story.
I've discovered it is not merely physical isolation but also the psychological isolation when your disease is so rare that your doctor must ask you to wait while he googles it. There is also self-imposed isolation that comes with denial which in my view, is a coping mechanism, especially just after diagnosis when the enormity of what you have is all too much.
When my late brother Graeme, at 58, was diagnosed with Fabry Disease seven years ago, I had never heard of it. I didn't take his advice to be tested seriously, despite him telling me I had a 50% chance of having the disease and that my three adult sons should be tested. “We've got it from Mum” he told me. I must confess my initial reaction was to blame my brother's life style choices: Graeme carried too much weight, followed a bad diet most of his life, and as a business journalist, had embraced the adrenaline-laced stress of decades of deadlines. While hospitalised, he continued to campaign for political office in Local Body elections. He'd discharged himself from hospital twice in the few weeks prior to his death. He literally met his own deadline. His big heart just stopped.
Barely two months after my brother's death, my oldest son Thomas displayed heart-related symptoms while out of the country. This is called syncope, and was attributed to yet undiagnosed Fabry Disease. He was already aware that he had a fifty percent chance of having the disease and showed his uncle's post mortem to a specialist in Sydney to whom this indicated a strong likelihood of the disease. He underwent ECGs and other tests; the outcome of which resulted in him being promptly fitted with a pacemaker. However, it was not until nearly a year later in August 2011 Tom was officially tested and diagnosed for Fabry. In January 2012, Tom began ERT. This was very hard on his family as initially he had to go from Canberra to Westmead in Sydney for his fortnightly therapy. His brothers Simon and James were also tested around this time and were found to have Fabry disease.
The diagnosis of Fabry Disease catapulted us into reality. It was assumed already I had Fabry now my sons were diagnosed. The genetic family history was like a puzzle of “join the dots”, fascinating for the geneticists collaborating between Australia and New Zealand, looking back at the possible manifestations of the illness in previous generations. I found it intriguing too, but also distressing. The heaviest blow was that there is no cure and no access to ERT in New Zealand. This disparity means that my two sons here in Australia have access to ERT treatment, while my son James and his daughters, like other Kiwis, do not.
At time of diagnosis, I was going through the process of being made redundant from my job. I was in my 60th year and had no financial or emotional support from a partner. On the heels of the shock was guilt. I had inherited Fabry from my mother and I had passed it on to my family inadvertently. I was unable to convince myself of the logic that at the period of my life when I was of child bearing age, I had no knowledge that I carried Fabry disease. I've asked myself since if it would have made any difference all those years ago if I had known? I don't know but I felt it was all my fault. My mother died of a heart attack in 2003, as had my father some years before, so to me heart disease was high up on the list as the likely cause of death for New Zealanders. When I told a few people around me that I had Fabry Disease no one knew what it was, reinforcing this feeling of isolation. I soon got tired of explaining it.
Who are the Kiwis with Fabry? Was there anyone out there like me? As a reaction to such a confronting diagnosis and with a need to take action, any action, I set up a Facebook Page as a starting point to connect me with others who had Fabry in New Zealand and around the world. I called it Fabry Support Group NZ but in reality, it is an informal forum, not an incorporated society with members.
With small numbers, Fabry Disease is under the umbrella of Lysosomal Diseases New Zealand whom I had made contact along with Fabry Australia. LDNZ takes an active role petitioning our government drug purchasing agency, Pharmac for access to medicines for Lysosomal Diseases, getting people onto clinical trials, and generally offering support.
In addition, our family, while not a large one is spread far and wide. My sister Shirley who has Fabry and her family, live here in Melbourne; my sons Thomas and Simon live in Canberra and Sydney respectively; my son James in Auckland. My late brother's children are now adults with whom I've lost contact. My nephew lives in New Zealand while my niece is in the UK. When I last heard she was in total denial about her diagnosis of Fabry Disease.
My remaining brother, Bryan, was living in Germany at the time of Graeme's death. Bryan looks after himself and being fit and well and saw no rush to be tested. Despite this, he had mentioned the painful hands and feet his young daughter experienced. This concerned me, I think he was afraid that if his daughter was diagnosed, it would inevitably lead to his own diagnosis which may have an impact on his career, so I was frustrated with my brother's denial to put it mildly. Fortunately, since then he and his daughter have been diagnosed. Bryan, is a British citizen, living in Ankara, Turkey where he holds a senior diplomatic post and receives ERT.
In New Zealand isolation is part of who we are. We are not backward by any means but we are geographically isolated. Of the approximate 37 people diagnosed with Fabry Disease in New Zealand, there are currently some New Zealanders on clinical trials here in Melbourne under Dr Kathy Nicholls. Dr Emma Glamuzina of the Metabolic Clinic in Auckland Hospital suggests that there are many more people who are likely to have Fabry in New Zealand but who have never been tested.
To conclude my son James sums up denial succinctly as follows: “Fabry, it's an abstract threat. Why should you engage with a health system beyond lifestyle recommendations? There is no treatment available here so you just get on with life.”
For those who have symptoms that have a negative impact on how they go about their lives, the absence of treatment perhaps cannot be shrugged off so easily.