Meet Isla: A Teen with CHOPS and a Global Community
Isla Steed, a 14-year-old from Port Lincoln on Australia’s Eyre Peninsula, may seem like a typical teenager to many. Her mum, Kylie Steed, describes her as a stubborn, technology-loving foodie who also has a favourite word: “no.” What sets Isla apart is a diagnosis shared by just a handful of people worldwide: CHOPS syndrome, a rare genetic disorder that affects cognitive function, facial features, heart health, growth, and more.
A Rare Disease That Took Time to Name
CHOPS stands for its key signs and symptoms: cognitive impairment and coarse facial features; heart defects; obesity; pulmonary problems; and short stature and skeletal abnormalities. The condition was not identified by researchers until 2015, and Isla’s diagnosis came eight years later after doctors initially labelled her with Cornelia de Lange syndrome. Her story mirrors the experiences of many families facing CHOPS: a long diagnostic odyssey, confusion, and the challenge of finding the right care and resources.
Early Struggles and Family Resilience
Isla’s early life was marked by health hurdles. She weighed just 1.5 kilograms at birth and spent 147 days in hospital, requiring a feeding tube and CPR at one point. Her family temporarily relocated to Adelaide, and it wasn’t until Isla was 11 that she could return home to Port Lincoln. Even in a regional setting with limited resources, Isla now has access to a broad range of therapies—speech, occupational therapy, and physiotherapy—though the path to finding timely services was often challenging for her family.
Building a Global CHOPS Network
Isla’s story is part of a larger, worldwide effort to raise awareness and fund research for CHOPS. The CHOPS syndrome community began to take shape in the United States and Europe after Leta Moseley, the first person diagnosed with CHOPS in 2015, inspired families to connect. Leta’s mother, journalist Lainey Moseley, launched CHOPS Syndrome Global, while Italian scientist Manuela Mallamaci founded Fondazione CHOPS. These initiatives linked families, doctors, and researchers—creating a network that helps families navigate care, share information, and push for scientific breakthroughs.
A Quick History of the Gene Behind CHOPS
The search for a genetic basis of CHOPS led to a breakthrough with exome sequencing, which allowed researchers to spot changes in the AFF4 gene. Dr. Kosuke Izumi and colleagues identified the mutation and helped name the syndrome CHOPS, based on its major clinical features. This discovery underscored how rapid advances in genetic testing can transform the lives of families who once felt isolated and uninformed.
Hope for Treatments on the Horizon
Despite the rarity of CHOPS, advocates remain hopeful that treatments will emerge. Campaigners emphasize that solutions may come in the form of repurposed drugs, targeted gene therapies, or personalized approaches using patient-derived stem cells to study the disease and identify potential therapies. In interviews, researchers like Dr. Izumi acknowledge the optimism while highlighting the need for continued funding and international collaboration.
What Isla Teaches Us Today
Isla’s experience reflects a broader truth about rare diseases: awareness, early diagnosis, and sustained access to services make a tangible difference in quality of life. For Isla, that means ongoing check-ups and a supportive care network that grows with her needs. For families around the world, it means hope grounded in community, science, and shared stories that connect distant corners of the globe.
Conclusion: A Future Carved by Collaboration
The CHOPS journey—from the initial misdiagnoses to a growing global community—continues to evolve. While Isla’s day-to-day life in Australia shows the possibilities of regional healthcare when supported by networks and professionals, the larger CHOPS story proves that even the rarest conditions can unite people across continents in pursuit of better answers and brighter futures.
