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Once Upon A Gene

Once Upon A Gene

Auteur(s): Effie Parks
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À propos de cet audio

 As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.© 2019 - 2022 Effie Parks Relations Sciences sociales Éducation des enfants
Épisodes
  • Smarter Speech: How Q-Voice Is Changing AAC for Families and Therapists with Lana Marcucio

    Smarter Speech: How Q-Voice Is Changing AAC for Families and Therapists with Lana Marcucio
    Oct 24 2025
    Lana is a mom, software developer, and fierce advocate who created Q-Voice, an AAC system built out of love, frustration, and deep understanding. When her daughter Quinn struggled to connect through traditional speech apps, Lana and her husband decided to build something better—something intuitive, visual, and human. In this episode, we talk about: The real-life limitations of traditional AAC systems How Q-Voice uses GIFs, emojis, and real-world icons to keep learners engaged Built-in data tracking that actually helps shape speech goals The AI feature that speeds up sentence formation and keeps communication flowing Why parent involvement and design simplicity are key to AAC success Whether you’re a parent, SLP, or educator, this episode is full of hope and practical inspiration for making communication easier—and more fun—for everyone. Learn more or try Q-Voice: qvoice.app Follow Lana on Instagram: https://www.instagram.com/tigerishmom/ Follow Q-Voice on Instagram: https://www.instagram.com/qvoice.app/
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    43 min
  • Why Genetic Testing Matters: The Case for Genetic Testing and the Start Genetic Movement - with Geraldine Bliss

    Why Genetic Testing Matters: The Case for Genetic Testing and the Start Genetic Movement - with Geraldine Bliss
    Oct 16 2025
    In this episode of Once Upon a Gene, host Effie Parks welcomes Geraldine Bliss — rare mom, co-founder of CureSHANK, and the powerhouse behind Start Genetic, a new movement empowering families to take control of their genetic testing journey. Geraldine shares her decades-long experience as mom to Charles, a 27-year-old living with Phelan-McDermid syndrome, and how one test unlocked a world of understanding, care, and connection. Together, Effie and Geraldine dig into the real-world impact of genetic testing — what to ask for, when to push for answers, and how knowing the cause changes everything. They cover: 🧬 When and how to pursue genetic testing or re-testing 🧩 How a diagnosis can transform care, support, and research 🚫 Common myths and roadblocks that stop families from getting tested 🧠 Why “not knowing” limits treatment options — and what to do about it 💪 Action steps and resources you can use today Effie and Geraldine leave listeners with a clear message: You don’t have to wait for the system to hand you answers. You can start genetic. ✨ Resources Mentioned: Start Genetic CureSHANK Phelan-McDermid Syndrome Foundation 💬 Quote from the Episode: “Getting a diagnosis doesn’t change who your child is — it changes what you can do for them.” — Geraldine Bliss
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    47 min
  • Mini Brains in a Dish: Organoids and the Future of Personalized Rare Disease Medicine

    Mini Brains in a Dish: Organoids and the Future of Personalized Rare Disease Medicine
    Oct 2 2025
    In this episode of Once Upon a Gene, Effie sits down with Dr. Maya Gosztyla from Brainstorm Therapeutics to explore one of the most exciting frontiers in rare disease research - organoids. These “mini brains in a dish” are clusters of real human brain cells grown from a child’s stem cells. They’re giving researchers and families new ways to study disease, test drugs, and imagine personalized treatments. Effie and Maya talk about: What organoids are and why they matter for rare diseases How organoids could replace traditional mouse models, speeding research while reducing reliance on animal studies The potential for organoids to accelerate drug development and get treatments to clinical trials faster How these tiny models might unlock personalized medicine, tailored to each child’s unique mutation Why this shift from “watching and waiting” to testing and acting could be transformative for families Maya brings not only her scientific brilliance but also her heart and connection to the rare disease mission. This conversation will expand your sense of what’s possible for the future of research, treatment, and hope for our kids.
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    38 min
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