When baby Amelia Helyer was born, her struggle to breathe raised immediate concerns for her parents, Elissa and Peter Helyer. Despite the efforts of medical professionals, the cause of her distress remained a mystery for some time. “They just kept telling us there was something wrong, and they didn’t know what it was,” Elissa recalled. The family faced an emotional journey during Amelia’s stay in a special care nursery, where they encountered new challenges each day.
After extensive testing, including DNA sequencing, the family received a diagnosis that was both rare and daunting: Amelia has Kabuki Syndrome, a genetic disorder affecting growth, development, and cognitive abilities. “It’s not really what you expect when you think about having your first child,” Elissa said. “There’s not much information about adults with Kabuki syndrome, and it’s hard to envision what the future holds for Amelia.”
Amelia is one of only five children in New South Wales and the sole representative from the Hunter region participating in the annual Jeans for Genes fundraiser. This initiative supports research at the Children’s Medical Research Institute, aiming to enhance understanding of various genetic conditions, including Kabuki Syndrome. Her parents are determined to improve her quality of life and help other children facing similar challenges.
“There really wasn’t a lot of information out there,” Elissa noted. “We found a few snippets, but nothing comprehensive about what lies ahead.” Amelia has undergone extensive physiotherapy and occupational therapy to assist her in walking and talking, alongside the use of leg braces due to her brittle bones.
According to Dr. Mark Graham of the Children’s Medical Research Institute, research into the underlying mechanisms of neurological conditions is crucial for improving outcomes for children like Amelia. “All the other kids welcome her with open arms, but there’s a noticeable difference between her and children her age,” Peter remarked. “We just don’t want her to fall behind. The more research we can fund, the more opportunities there will be for kids like her in the future.”
Jeans for Genes is one of Australia’s oldest charity initiatives and will take place on the first Thursday in August this year. “It’s not just about Amelia,” Elissa emphasized. “Many children are affected by genetic syndromes, and they all deserve to lead fulfilling lives. Research is essential for making a difference.”
As the Helyer family continues to navigate the complexities of Amelia’s condition, they remain hopeful that increased awareness and funding will lead to a brighter future for her and countless others.
