Épisodes

  • Season 1 Finale - Reflections, Q&A, and Next Steps
    Jul 7 2023

    Join us for the final episode of our first season as we discuss the importance of advocacy for children with Noonan Syndrome, provide answers to some pressing questions, and reflect on our journey so far. Shawna and I share personal updates, look ahead to next season's focus on RASopathies, and spotlight the incredible families from our SHOC2 episode.

    In our Q&A segment, we address topics like ongoing research on Noonan Syndrome at Stanford School of Medicine, dealing with unresponsive pediatricians regarding growth hormones, and communicating with educators unfamiliar with Noonan Syndrome.

    Teachers Guide: https://noonansyndrome.com.au/wp-content/uploads/2016/10/NSAA-Teaching-Strategies-for-NS.pdf

    - Stanford School of Medicine - Noonan Syndrome Research Study: [Link Here](https://web.stanford.edu/group/bridgelab/project/ns_study/)

    We also provide helpful strategies for parents on advocating for their Noonan Syndrome child, which is vital for their well-being and growth.

    During our hiatus, stay tuned for a special podcast episode featuring a Peace Corp Member from Alabama, stationed in Eswatini, sharing their unique experiences.

    As we prepare for the next season, our website will undergo some exciting changes, and our YouTube channel will see more updates. Keep an eye on our Etsy shop too, as we roll out new T-shirts and more soon.

    This season has been an incredible journey, and we couldn't have done it without you, our listeners. Your support fuels our mission, and we look forward to joining you again in the next season for more engaging conversations.

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    13 min
  • Embracing the Journey: Living with NS-SHOC2
    Jun 9 2023

    Join us as we tell you about some amazing children living with SHOC2 in this special episode of the Noonan Syndrome Podcast.

    In this captivating journey, we invite you to meet five extraordinary families who have embraced the challenges and triumphs that come with raising a child diagnosed with SHOC2. Each child's story is a testament to the strength, resilience, and boundless love that define their families.

    Prepare to be inspired as we celebrate the indomitable spirit of these remarkable children. Their stories remind us of the power of resilience, the importance of support networks, and the beauty of finding joy in every moment, no matter the circumstances.

    Tune in to the Noonan Syndrome Podcast and embark on a powerful exploration of the lives of these incredible children living with SHOC2. Get ready to be moved, enlightened, and uplifted as we shine a light on their journeys and the love that guides them every step of the way.

    Schaeffer, A., & Bailey, S. (2023). Shining a light on Noonan Syndrome. Noonan Syndrome Podcast. https://noonansyndromepodcast.my.canva.site/

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    37 min
  • Unmasking SHOC2: A Triumph Over Noonan Syndrome
    May 26 2023

    "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/

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    21 min
  • Unveiling the Research: Delving into a Recent Noonan Syndrome Study and an Exciting Surprise Reveal!
    May 19 2023

    In this week's episode, we shine a spotlight on a groundbreaking study that has caught our attention. Join us as we dive into the details and share some exciting news.

    This study, published last year, has the potential to revolutionize our understanding of Noonan Syndrome. We'll discuss its findings and how they have the potential to impact diagnosis and treatment strategies.

    But that's not all—we have big news to share! Tune in to be the first to hear about the latest developments in the field of Noonan Syndrome research. It's an announcement you won't want to miss.

    If you're a regular listener, thank you for your continued support and for being part of our podcasting journey. And if you're joining us for the first time, welcome! Make sure to catch up on our previous episodes and leave us some feedback.

    Remember, your engagement and stories play a vital role in spreading awareness and fostering connections within the Noonan Syndrome community. So keep sharing, keep listening, and keep making a difference.

    You can email us at noonansydromevictories@gmail.com

    Our website is https://noonansyndromepodcast.my.canva.site/


    https://doi.org/10.1186/s12887-022-03804-2 Baldo, F., Fachin, A., Da Re, B. et al. New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study. BMC Pediatr 22, 734 (2022).

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    23 min
  • Adaptive Equipment and Products for Children with Noonan Syndrome
    May 12 2023
    In this episode, we explore the various tools and devices that can support the development and daily lives of children with Noonan Syndrome. We discuss the importance of adaptive equipment and how it can help address specific challenges in areas such as gross motor skills, fine motor skills, sensory processing, and communication. Join us as we delve into the world of adaptive equipment and provide valuable insights and practical advice for parents, caregivers, and healthcare professionals supporting children with Noonan Syndrome. Website: noonansyndromepodcast.my.canva.site
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    27 min
  • The Importance of Self-Care for NS Parents and Caregivers
    May 5 2023

    In this episode of our Noonan Syndrome podcast, Angie takes the reins and flies solo as her usual co-host, Shawna, is unfortunately under the weather. But the show must go on! Today, Angie talks about an important topic for parents and caregivers of children with Noonan Syndrome - self-care. Caring for a child with Noonan Syndrome can be physically and emotionally demanding, and it's easy to neglect your own needs and well-being in the process. But prioritizing self-care is not selfish - it's necessary to be the best caregiver you can be for your child. Angie discusses the importance of self-care and offers practical tips and strategies for parents and caregivers to prioritize their own needs while still providing the best care possible for their child. Tune in for an informative and empowering short episode on the importance of self-care in the world of Noonan Syndrome caregiving.

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    9 min
  • Real Talk about Early Intervention and Support
    Apr 28 2023

    In this week's episode of our podcast about Noonan Syndrome, co-hosts Shawna and Angie discussed the importance of early intervention and support for individuals and families affected by the condition. Drawing on personal experiences, Shawna shared candid insights into her daughter Snow's education and the challenges she faced navigating the healthcare system. The episode offers a valuable perspective on the issues facing those living with Noonan Syndrome and provides practical advice on seeking support and advocating for oneself and loved ones. Tune in to gain a deeper understanding of the challenges and opportunities presented by Noonan Syndrome, and to join our mission to raise awareness and support for this condition. You can find us @ noonansyndromepodcast.my.canva.site/

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    44 min
  • Understanding NS Gene Mutations and Their Impact
    Apr 21 2023

    In this podcast episode, the hosts explore the genetic basis of Noonan Syndrome, a rare genetic disorder affecting multiple body systems. They discuss the role of gene mutations in causing the disorder, the physical and developmental symptoms associated with it, and the importance of early diagnosis and tailored treatment strategies. Additionally, they highlight the challenges and victories of living with Noonan Syndrome and the importance of raising awareness and advocating for individuals with the disorder.

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    14 min