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AUTUMN 2025 InTouch | 9 A JOURNEY OF HOPE Ethan and Ollie receiving their first infusion, as well as first of numerous ECG’s. accepted into another—only to have it cancelled before it even began. So, when a new opportunity came along, I was hesitant to get my hopes up, especially because Ollie wasn’t quite old enough to qualify. Then, another challenge struck – Ollie fell and fractured his back due to low bone density, a common issue for children with DMD. This only reinforced the urgency of finding a treatment that could slow down the progression of the disease. In August 2022, Ethan and Ollie began a 144-week medical trial at NZ Clinical Research. They are the only boys in New Zealand on this trial, as their specific genetic mutation makes them eligible for an exon-skipping medication, a treatment where by a section of the genetic code (exon) is intentionally skipped, allowing the body to create a shorter but still functional form of dystrophin'. Since then, they have undergone 132 infusions, either at the clinic or at home. To avoid the weekly pain of finding a vein for an IV, they have a portacath placed under their skin. However, they still require IVs for additional What is exon skipping? The dystrophin gene is made up of exons that are linked together and make dystrophin—a protein our muscles need to work properly. Without dystrophin, muscle cells become damaged and weaken over time. There are 79 exons on the dystrophin gene. The exons are like carriages that move together like a train, the connections between carriages must match. When an exon is missing, like carriage 50 below, the result is that carriages 49 and 51 are not able to connect because their connectors are different shapes. In the dystrophin gene, this missing exon would prevent the body from making dystrophin. By moving certain carriages (exons) aside, we can “skip over” them to find a carriage with the right shaped connector. The new train would be shorter, but the cars (exons) are connected, a shorter form of dystrophin will be made. Continued over ...