Amelia Helyer, a young girl from Lake Macquarie, New South Wales, is making a significant impact in raising awareness for children with Kabuki Syndrome, a rare genetic disorder. Amelia’s journey began with a difficult start; she struggled to breathe at birth, prompting immediate concern from her parents, Elissa and Peter Helyer, and medical professionals.
Despite numerous tests, including DNA sequencing, the diagnosis remained elusive for some time. Eventually, Amelia was diagnosed with Kabuki Syndrome, which affects growth and development, causes intellectual disabilities, and leads to skeletal abnormalities. Elissa Helyer described the experience as overwhelming, stating, “It’s not really what you’re expecting when you think about how things are going to be with your first child.” The uncertainty surrounding her daughter’s future weighed heavily on the family.
Raising Awareness Through Jeans for Genes
Amelia is one of only five children from New South Wales to represent the annual Jeans for Genes campaign this year, which aims to fund research at the Children’s Medical Research Institute to better understand conditions like hers. The fundraiser, set to take place on the first Thursday in August 2024, is one of Australia’s oldest charity days.
Elissa and Peter are committed to improving Amelia’s quality of life and the lives of children with similar conditions. “There really wasn’t a lot of information out there,” Elissa noted. Their mission extends beyond their daughter; they want to ensure that all children with genetic syndromes lead fulfilling lives.
Amelia’s treatment has included extensive physiotherapy and occupational therapy, which have helped her learn to walk and talk. She also wears leg braces due to her brittle bones, which make her prone to dislocations. According to Dr. Mark Graham at the Children’s Medical Research Institute, recent research into the neurological mechanisms of Kabuki Syndrome is crucial for improving outcomes for affected children.
Peter Helyer shared his observations regarding Amelia’s interactions with her peers: “All the other kids welcome her with open arms, but you can definitely tell there’s a big difference between her and kids her age.” The Helyers are determined to ensure Amelia does not fall behind, emphasizing the importance of research funding for better opportunities for children like her.
A Call for Continued Research and Support
Elissa Helyer underscored the broader implications of their advocacy: “It’s not just about Amelia. There’s so many kids that are affected by genetic syndromes, and they all deserve to live a fulfilling, happy life.” The family’s efforts reflect a growing awareness of the challenges faced by children with rare genetic disorders and the critical need for ongoing research.
As the Jeans for Genes campaign approaches, the Helyers hope to inspire others to contribute to the cause. They believe that increased funding for medical research can lead to breakthroughs that enhance the lives of children with Kabuki Syndrome and similar conditions. Their story serves as a reminder of the resilience of families navigating the complexities of genetic disorders and the importance of community support in fostering hope and change.
