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SUMMER 2023 InTouch | 11 STEPPING OUT OF MY COMFORT ZONE TO SHARE MY JOURNEY Then, there are several stages of a trial to go through, before it reaches human participation, as well as the side effects and what participation in a trial means. Speaking from personal experience of being on a trial, and looking back to reading through the pages that I had to consent to, with all the listed side effects, I would do it again. Especially in New Zealand currently, for rare disorder treatments, sometimes the only way to access these medicines that are funded in the rest of the world, is through clinical trials. I also presented at the Conference, a little out of my comfort zone, but important to share my patient journey with others, and to make sure that the drug companies present, and Australian Specialists, don’t forget about us in New Zealand when they are thinking about setting up clinical trials in Australia. I talked about my 7 years to diagnosis, originally being told it was possibly Muscular Dystrophy. My coming to terms with the Pompe diagnosis, but also knowing there was a treatment that could slow down progression, but that New Zealand did not fund it, and then my patient advocating for the last, nearly 10 years, to push for better medicine access. These Conferences, whether they are combined or organised by the New Zealand Pompe Network in New Zealand, are invaluable for us as patients to attend. It is hearing about the latest developments in treatment, learning about any new recommendations in diet and exercise, as well as hearing the patient stories, knowing that someone gets what you are going through, this all helps you on your patient journey. If you would like to find out more about Pompe, please go to the New Zealand Pompe Network Website. I might not like to think that Pompe defines me, but like it or not, it has shaped me and put me on a different course. and also on a more positive aspect, I have met amazing people who are also on the same journey as me. Thanks to the Muscular Dystrophy Association, and financial support from the Bradley Jenkin Memorial Fund, last month I was able to attend and speak at the Australian Pompe Association and New Zealand Pompe Network Conference in Adelaide, Australia. I believe the New Zealand and Australian ties are strong, we value the chance to attend these conferences as it allows Kiwis to connect with a larger network of patients, and hear from international experts. For me, the highlights from the Conference were: Dr Kishnani, Duke University, was the first to speak about how newborn screening for Pompe has been implemented in 28 US states and Washington DC, and in particular how she has researched and looked at the issues surrounding the diagnosis of a newborn with Late Onset Pompe Disease (LOPD) and how guidance should be provided for long term follow up. For more information, you can refer to a paper here – https://tinyurl. com/6xyth2hs Dr Drago Bratkovic, Metabolic Unit, Adelaide Hosptial, presented on What is Gene Therapy and Substrate Reduction Therapy. I was very interested to understand more about Substrate Reduction, as I had heard that it could help prevent the excessive build up in the muscle cells of glycogen, by inhibiting the action of the gene GYS1, (the gene controlling glycogen synthesis in muscle cells). There are currently trials running for this but they are still at the animal stage, they do show promise that SRT, i.e. inhibition of the gene GYS1, reduces the “influx” of glycogen into the vessel, so that glycogen can no longer accumulate to such an extent and cause destruction. I felt that it seemed that it was more likely that this therapy could be on the horizon sooner than gene therapy. It was a first to see one of our New Zealand Specialists, Dr Richard Roxborough, Neurologist, Auckland City Hospital, and Dr Drago Bratkovic present together on “How to encourage Drug Trials in Australia and New Zealand”. They talked about the development of drugs, how the process evolves over many years, and millions of dollars before it even reaches the trial stage. Christina Turner, Dr Drago and Samantha Lenik.