In January 2014 I was diagnosed with Pompe after years of back pain, getting weaker and shortness of breath. I first noticed symptoms in 2007, after the birth of my son, it seemed harder for me to get fit again, and subsequently after my daughter in 2009. I used to love running and attending all the Les Mills classes, but over time it became harder and harder to keep up. I put it down to not being fit enough, not trying hard enough at the gym, not making enough time for exercise.
This went on for years, with me visiting physios and doctors and complaining of lower back pain, the aerobics classes caused me to stumble and fall, the running became impossible and I was getting out of breath. Finally in January 2014, after months of numerous tests, my world was turned upside down. I was diagnosed with Pompe. While the diagnosis was devastating, I was also relieved that I knew what was going on, and in a weird way it also opened my eyes to all the positives in my life. It made me appreciate my little family even more, made me stop and think about what is important, and how very lucky I am to have an amazing, supportive extended family and group of girlfriends who have played such a vital part in supporting me. The diagnosis also made me realise I was a fighter. What was even harder to hear than the diagnosis, was that there is a treatment available that can halt the progression, but that this treatment is not available in New Zealand. PHARMAC will not fund it because they believe the clinical data is not strong enough. Yet 76 countries do fund it?! I believe in a quote from Richard Branson - “Do not accept the unacceptable” - and I wanted to change this unacceptable situation.
In December 2016 after years of writing letters trying to appeal to PHARMAC and politicians, and featuring in various media, I along with other Pompe friends and rare disease people and organisations, handed in a Petition to the House of Representatives, and to Dr Jonathan Coleman, Minister of Health. We asked that the House consider, under urgency, the need for PHARMAC to have sufficient funding to implement its rare disease policy. We want to be given access to these treatments that will enable Kiwis to live a better quality of life with their families, for longer.
Following on from the Petition, in June 2017, myself and the Chair of Lysosomal Diseases NZ were asked to appear before the Health Select Committee and answer questions about the Petition and tell them a bit about my story. Unfortunately the Petition only made it as far as the Order Paper, which means that it sits on the Order Paper for 14 sitting days – essentially to alert M’s to its existence. It does not get discussed in Parliament. This was extremely disappointing, but we felt with the change of Government in late 2017 that there was still hope.
In the meantime, in November 2016 I was overjoyed to be asked to participate in a clinical trial for Amicus Therapeutics, for a new enzyme replacement therapy to treat Pompe. Since then I have been travelling every fortnight to Adelaide to receive this therapy. I firmly believe that I am stronger physically, my breathing hasn’t declined and I receive three monthly testing to prove these positive outcomes.
Unfortunately, and I suppose I should say unsurprisingly as I don’t know why I ever put faith in politicians, with the change of government we have not seen a move to change in funding for rare diseases. This is despite the current government, Labour, stating in their campaigning that they would, “restart the rare diseases fund with strong consumer voice in decision-making, and they would invest an initial $20 million spread over four years.” We are still hopeful that this government will look to make the necessary changes for rare disease funding so that everyone has a fair chance at access to treatment.
I am determined to stay mentally strong, I try to meditate when I can, and for me exercise is a fine balance, enough to maintain muscle and not too much to damage it. I try to eat a relatively healthy wholefood, low carb diet and look after my body, but I do love chocolate so I do treat myself, I’m no saint!
I firmly believe in mind over matter. It’s not your situation that determines your mind, but the way that your mind determines your situation.