I would like to dedicate this testimony to my late brother Graeme, without whose diagnosis we might never had known we had Fabry disease.
On my journey I have discovered that 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 eight 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 lifestyle 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 deadlines for decades. While hospitalised, he continued to campaign for political office in local body elections. Discharging 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 50% 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 that Tom was officially tested and diagnosed for Fabry. In January 2012, Tom began enzyme replacement therapy (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. Fortunately, despite having heart disease – our familial mutation affects the heart – I am largely asymptomatic and monitored for key indicators of the disease through the public health system. I am able to lead an active life.
The genetic family history was like a puzzle of “join the dots.” It was fascinating for the geneticists collaborating between Australia and New Zealand to look 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 in Australia have access to ERT treatment, while my son James and possibly his daughters, like other Kiwis, do not.
At time of diagnosis, I was made redundant from my job. I was aged sixty, without 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 it 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, (most people still don't), reinforcing this feeling of isolation. I soon got tired of trying to explain it, not fully understanding the disease myself.
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 portal 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 subscribing members.
With such small numbers like most rare diseases, Fabry Disease is under the umbrella of Lysosomal Diseases New Zealand (LDNZ) with 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 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 have lost contact. When I last heard my niece 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. Since then he has been diagnosed as positive for Fabry. Bryan is a British citizen and is living in Ankara, Turkey where he holds a senior diplomatic post and received ERT. Since writing this, my brother's tenure has ended and he and his family will return to the UK. He is now prescribed the oral drug Migalastat.
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 some New Zealanders on clinical trials 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.