Overview: A rare diagnosis with a global footprint
Isla Steed is a 14-year-old from Port Lincoln, South Australia, whose life highlights the human side of an extremely rare genetic condition known as CHOPS. Short for cognitive impairment and coarse facial features; heart defects; obesity; pulmonary problems; and short stature and skeletal abnormalities, CHOPS is a disease that remains largely unseen by most medical professionals—and even more rarely seen in patients. When Isla was born, clinicians did not yet recognize this syndrome, a testament to how newly named and understudied CHOPS remains on the map of medical knowledge.
CHOPS was identified as a distinct genetic condition in 2015, with diagnosis often following years of misinterpretation as similar disorders. The Steed family’s experience mirrors a broader pattern: many CHOPS cases are misclassified before researchers and clinicians pinpoint the new genetic mutation behind the constellation of symptoms.
Isla’s journey: From hospital to home
Isla’s early life was marked by challenges common to rare-disease narratives: fragile health, a need for a feeding tube, and an extended hospital stay that began shortly after birth. At one point, Isla required resuscitation, and her family relocated temporarily to Adelaide to access specialized care. By age eight, the diagnosis shifted from Cornelia de Lange syndrome, revealing the unique genetic underpinnings of CHOPS. Today, Isla enjoys life in regional South Australia with a “full repertoire” of local allied health services that support her development and well-being.
Advocates emphasize that even in Australia’s regional communities, awareness and access to services for CHOPS have improved, though challenges persist. Isla’s mother stresses that medical staff often lack familiarity with CHOPS, making timely diagnosis and coordinated care harder. Nevertheless, Isla’s family highlights the resilience of regional health networks and the importance of ongoing advocacy to connect families with therapists, doctors, and researchers.
Global CHOPS advocacy: Building a network of hope
CHOPS is not a lone battle within Australia; it connects families across continents. The world first gained a patient with CHOPS in 2015, Leta Moseley in the United States, whose mother, Lainey Moseley, launched CHOPS Syndrome Global to foster community, information sharing, and fundraising. In parallel, Italian researcher Manuela Mallamaci and her colleagues formed connections that led to a coordinated push to understand and treat CHOPS. The shared work of these advocates created an international backbone for CHOPS research and family support.
Key to this momentum has been advances in genetic testing. The 2012-2015 window saw exome sequencing become a practical tool for diagnosing mysterious syndromes. Researchers identified a mutation in the AFF4 gene, providing a concrete genetic basis for CHOPS and enabling targeted research into potential therapies. As scientists map how AFF4 disruptions affect cell development, patient networks stay essential for aligning research priorities with the concerns of families living with CHOPS.
Where research and treatment stand—and what comes next
Experts acknowledge the translational gap between discovery and therapy. While there is no cure yet, researchers are exploring strategies such as induced pluripotent stem cells to model CHOPS in the lab and screen possible drugs. Clinicians and patient advocates alike express guarded optimism: advances in gene therapy and drug repurposing may one day offer meaningful options for people with CHOPS, including children and adults.
Isla’s story embodies both the challenges and the hope that define rare diseases. Her family remains grateful for the access to multidisciplinary services in Port Lincoln and for the rising awareness that could shorten the path to diagnosis for other CHOPS patients. Advocates worldwide continue to push for research funding, better clinical guidelines, and community networks to ensure that no family bears CHOPS in isolation.
Quotes from advocates and researchers
“We are just a few people, but it is important to know other families.” — Italian researcher Manuela Mallamaci
“In my lifetime, we will have a treatment for CHOPS syndrome,” — CHOPS Syndrome Global founder Lainey Moseley
Conclusion: A community united for better futures
CHOPS remains a rare diagnosis, but it is increasingly understood through collective effort. Isla’s Australian experience, interwoven with a global advocacy network, shows how patient voices can drive research, funding, and improved care pathways. As scientists refine how CHOPS manifests biologically and as clinicians gain familiarity with its management, the future holds promise for families who live with this complex condition every day.
