Spanish Coffin Siris Syndrome Association: Fighting for Health and Recognition
Founded in 2017, the Spanish Coffin Siris Syndrome Association is an organization dedicated to supporting families affected by this rare…
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Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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Empowering Patients: The Story of ALAPA
Continue readingIn 2019, Argentina witnessed the emergence of a beacon of hope for individuals grappling with complex health challenges. The Argentine…
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In Search of Answers: Paula Gödke’s Journey to her Daugther’s Rett Syndrome Diagnosis
Continue readingWe asked Paula Gödke, vice president of the Brazilian Rett Syndrome Association – ABRE-TE, to tell us about the odyssey…
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Finding Hope: Navigating the Diagnostic Odyssey of Williams Syndrome
Continue readingThe Martin Family’s worries about their daughter Evie started early, but were dismissed by health professionals. It took years for…
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Clinical cases using the Pediatrician View: Dr. Martinez Carrascal shows how it helped him unravel genetic complexities
Continue readingFace2Gene’s Pediatrician View is a tool that aids pediatricians in evaluating the potential benefits of genetic testing for their patients….
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A Diagnostic Odyssey: Sandra’s journey to find out she had Acromegaly
Continue readingSandra Mesri, founder of the advocacy group Apehi, suffers from a condition called Acromegaly, a rare disorder that occurs when…
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Diagnostic Odyssey: Brother and sister journey to find a diagnosis for Bardet Biedl Syndrome
Continue readingLauren’s birth was déjà vu for her parents. She had extra fingers, the same as her 7-year older brother Tyler…
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Face2Gene helps to reduce time to diagnosis of rare genetic syndromes around the world
Continue readingTwo mothers from two different countries share a similar story: a 10 year long journey to find a diagnosis for…
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A mother’s heart knows: Nicolas’ ten-year journey to a diagnosis
Continue readingFor ten years Maria Rayane knew something was not right with her son Nicolas. She was told by different specialists…
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