• Smiles Included: Navigating through life with our rare disease superheroes

  • 著者： Emily Beauclair
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Smiles Included: Navigating through life with our rare disease superheroes

著者： Emily Beauclair
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  • As a mom of a son with Skraban-Deardorff Syndrome, a WDR26-related intellectual disability, I started listening to podcasts as a form of therapy and to get advice for how to navigate through the emotions and questions that come with having a child with a rare disease diagnosis. I started this podcast for those impacted by Skraban-Deardorff, and other rare diseases, as a way to share stories, ask and answer questions, get advice and have a platform where we can work to understand together what the diagnosis means and how we can support each other. The podcast will feature guests and experts across the rare disease spectrum that highlight how to bring out the best in our rare kids and showcase that we are not alone, but part of a great community of people supporting our rare children. If you have any topics you would like to be discussed on the show, or if you would like to be a guest, please reach out to me at SmilesIncludedPodcast@gmail.com.
    © 2023 Smiles Included: Navigating through life with our rare disease superheroes
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あらすじ・解説

As a mom of a son with Skraban-Deardorff Syndrome, a WDR26-related intellectual disability, I started listening to podcasts as a form of therapy and to get advice for how to navigate through the emotions and questions that come with having a child with a rare disease diagnosis. I started this podcast for those impacted by Skraban-Deardorff, and other rare diseases, as a way to share stories, ask and answer questions, get advice and have a platform where we can work to understand together what the diagnosis means and how we can support each other. The podcast will feature guests and experts across the rare disease spectrum that highlight how to bring out the best in our rare kids and showcase that we are not alone, but part of a great community of people supporting our rare children. If you have any topics you would like to be discussed on the show, or if you would like to be a guest, please reach out to me at SmilesIncludedPodcast@gmail.com.
© 2023 Smiles Included: Navigating through life with our rare disease superheroes
人間関係 子育て 社会科学 絵本・児童書 自伝・回顧録
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  • Cynthia Lang: Inspiring Progress in SKDEAS Research & Treatments

    Cynthia Lang: Inspiring Progress in SKDEAS Research & Treatments
    2024/09/10

    Get ready for an inspiring episode of the Smiles Included Podcast as we welcome back Cynthia Lang. She returns with a heartfelt update on her ongoing quest to find a treatment for her son, Sebastian, and shares exciting news about the Skraban-Deardorff Syndrome Foundation's role in advancing this critical research.

    Discover how Transcripta Bio, formerly known as Rarebase, is making significant strides in rare disease research through innovative drug repurposing techniques. Cynthia’s journey began over two years ago, and the groundbreaking work of Transcripta Bio is bringing her closer to realizing her dream of a treatment for Sebastian.

    Tune in to hear about potential breakthrough drugs and groundbreaking collaborations with leading doctors and institutions that could transform the future for the rare disease community. Cynthia will also offer guidance on how you can get involved and support this vital ongoing research.



    TranscriptaBio.com

    Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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    29 分
  • Dr. Thomas Frazier and Katie Huba: Groundbreaking research to understand the cognitive and behavioral patterns of WDR26 patients

    Dr. Thomas Frazier and Katie Huba: Groundbreaking research to understand the cognitive and behavioral patterns of WDR26 patients
    2024/03/29

    Discover the groundbreaking strides being made in research on the WDR26 mutation as I talk to Dr. Thomas Frazier and his Research Coordinator, Katie Huba. This episode takes us through a new path towards understanding and improving the lives of those affected by rare genetic conditions. Dr. Frazier talks to us about his new study that leverages parent-reported questionnaires and innovative webcam assessments to unravel the cognitive and behavioral patterns in individuals with Skraban-Deardorff Syndrome.

    Research into rare diseases often brings a mix of apprehension and optimism. Here, we tackle the details of study participation, addressing the eligibility concerns of parents while highlighting the transformative benefits for their children. This conversation is an invitation to view research not as a daunting task, but as a means to glean a deeper understanding of your child's needs, offering strategic insights for the present and a beacon of hope for future medical advancements.

    As we explore the ways in which this study could transform care for those with WDR26 mutations, we invite eligible participants to join this collective effort. Please reach out to Katie Huba to discuss:
    khuba@jcu.edu.

    You can also find more information at skdeas.org/research.


    Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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    32 分
  • Laura Johansen: Triumphs, Challenges, and Hope in Raising a Rare Child

    Laura Johansen: Triumphs, Challenges, and Hope in Raising a Rare Child
    2023/11/29

    On this episode of Smiles Included, we sit with Laura Johansen, a resilient mother who shares her heartfelt experiences of raising her 21-year-old son, Duncan, who has only recently been diagnosed with Skraban-Deardorff. We dive into the early days marked by febrile seizures and delayed development and follow her journey through the complexities associated with this rare condition.

    We touch upon Duncan's speech development, school and sports experiences, family dynamic and friendships. Laura provides great advice for what has worked for her and Duncan along the way. It's a unique perspective on the joys, challenges, and hopes of raising a child with special needs.

    Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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    1 時間 2 分

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