Understanding CHOPS: A Rare Genetic Diagnosis
CHOPS is a rare genetic syndrome whose acronym captures its core features: cognitive impairment and coarse facial features; heart defects; obesity; pulmonary problems; short stature and skeletal abnormalities. Discovered only in 2015, CHOPS has affected a tiny number of people worldwide, with just a handful in Australia. For families like Isla Steed’s, the journey from uncertainty to diagnosis is an odyssey marked by missed clues, specialist referrals, and a persistent search for answers.
Isla Steed: A Typical Teen, With a Very Unusual Condition
Isla Steed is a 14-year-old who loves technology and food, and she has a stubborn streak that her mum describes with warmth. Her favourite word is “no,” a quirk that brings a smile even as it masks deeper challenges. Isla’s condition is so rare that when she was born, CHOPS had not yet been identified. She spent the early days of life in hospital, required a feeding tube, and faced CPR at one point. Her family’s resilience is a testament to the strength often needed by families navigating ultra-rare diseases.
From Misdiagnosis to a Named Syndrome
For years, Isla’s doctors considered Cornelia de Lange syndrome due to overlapping features. It was not until 2015 that researchers recognised a distinct genetic disorder, eventually named CHOPS after its characteristic signs. In Isla’s case, careful genetic work and a later re-evaluation led to a diagnosis at age eight—a turning point that opened doors to targeted care and specialist support.
Life in a Regional Community
Despite living in Port Lincoln, a regional city on Australia’s Eyre Peninsula, Isla has access to a broad range of therapies and medical follow-up. Her mum emphasizes that the family’s network—therapy teams, doctors, and community services—has grown to meet Isla’s needs. Regional life can complicate access to healthcare, but advocacy and persistent engagement with the health system have helped secure essential services, including speech therapy, occupational therapy, and physiotherapy.
Global CHOPS Advocacy: Building a Community
Although CHOPS remains exceedingly rare, researchers and families around the world have built networks to share knowledge, funding, and emotional support. In the United States, Lainey Moseley launched CHOPS Syndrome Global after her daughter Leta’s diagnosis, connecting families via online communities. In Italy, Manuela Mallamaci transformed personal concern into action by founding Fondazione CHOPS to fund research and collaborate with international researchers. The two families’ stories intersect, underscoring the power of advocacy in rare diseases.
A Shared Mission: From Diagnosis to Treatment
Researchers believe that advances in genetic testing—such as exome sequencing—were pivotal in identifying CHOPS. Kosuke Izumi and colleagues recognised a pattern among children with Cornelia de Lange-like features and, through cutting-edge genetic testing, identified AFF4 as the gene linked to CHOPS. This discovery transformed a cluster of similar symptoms into a defined genetic disorder and opened the door to targeted research and potential therapies.
Hope on the Horizon: Research and Realistic Optimism
Experts like Dr. Kosuke Izumi and others emphasize cautious optimism. Projects using induced pluripotent stem cells help scientists study the cellular effects of AFF4 mutations and test potential therapies in the lab. While a cure or definitive treatment is not yet available, researchers say progress is real, and the line between hope and action is narrowing. Advocacy groups keep raising awareness and funds to accelerate discoveries that could translate into real options for children and adults living with CHOPS.
What Families Need Now
For families touched by CHOPS, the priorities are clear: timely diagnosis, access to multidisciplinary care, and a reliable information network. Medical teams that understand CHOPS can coordinate speech, occupational, physical, and respiratory therapies to sustain quality of life. In parallel, patient-led organizations offer connection, education, and a shared voice to urge governments and researchers to invest in research and clinical trials.
Isla’s story—like the stories of many CHOPS families—illustrates resilience, community, and the unflagging pursuit of better outcomes. As medical science advances, the hope remains that treatment options may one day become available, offering tangible relief and improved futures for people living with CHOPS syndrome.
