Tag: Isla Steed
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Isla Steed and the World of CHOPS Syndrome: A Rare Genetic Journey
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…
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Isla’s CHOPS Journey: A Rare Disease Spotlight from Australia
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…