Unmasking SHOC2: A Triumph Over Noonan Syndrome
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Unmasking SHOC2: A Triumph Over Noonan Syndrome
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"Join us in this deeply moving episode as we navigate through the incredible life story of Katie, a woman living courageously with Noonan Syndrome, specifically the SHOC2 gene mutation. From her early diagnosis to her struggles and triumphs in school and her foray into the workforce, we explore how Katie defied expectations every step of the way. We'll share her experience of tasting food for the first time, a small victory that represented so much more. Learn how Katie became a beacon of hope, advocating tirelessly for families affected by rare diseases. We'll also delve into the science behind the SHOC2 mutation, seeking to shed light on this 'most common rare disease you've never heard of.' Tune in to honor Katie's journey and draw inspiration from her resilience, determination, and ceaseless optimism." WalesOnline. (2023). I never expected a normal life - but I've proved everyone wrong. Retrieved May 20, 2023, from https://www.walesonline.co.uk/news/wales-news/i-never-expected-normal-life-23452345?utm_source=linkCopy&utm_medium=social&utm_campaign=sharebar Schaeffer, A., & Bailey, S. (2023). Shining a light on Noonan Syndrome. Noonan Syndrome Podcast. https://noonansyndromepodcast.my.canva.site/