Tag: rare disease
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Wiskott-Aldrich Gene Therapy: EU EMA Recommends Waskyra for WAS
What is Wiskott-Aldrich syndrome and the promise of gene therapy Wiskott-Aldrich syndrome (WAS) is a rare, inherited immune disorder caused by mutations in the WAS gene. The condition typically presents in infancy or early childhood with a mix of immune dysfunction, small blood cells (thrombocytopenia), eczema, and an increased risk of infections and autoimmune problems.…
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Singapore Family Faces Rare Genetic Disorder KOS: A Mother’s Courage and Medical Insight
Introduction to a rare diagnosis In 2020, a Singaporean family welcomed their daughter, Rania, with a quiet start to life. The newborn did not cry, and her initial signs were subtle but concerning, prompting a rapid medical response. What followed was a complex medical journey that would reveal a rare genetic condition known as Kaufman…
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Lives Shaped by a Rare Genetic Disorder: A Singapore Family’s Battle with Kaufman Oculocerebrofacial Syndrome
Introduction: A Silent Beginning and a Hidden Diagnosis When Rania Safiyya Ridzwan was born in 2020, the delivery room felt unusually quiet. She did not cry, a sign that something was amiss, and the newborn’s first moments required urgent attention in the neonatal intensive care unit. Her mother, Madam Sri Syazwani Mohd Yazid, recalls the…
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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…