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
  • Healing in the Mess: Storytelling, Friendship & Finding Love - Author of The Unlikely Village of Eden, Emma Nadler

    Healing in the Mess: Storytelling, Friendship & Finding Love - Author of The Unlikely Village of Eden, Emma Nadler
    Sep 4 2025
    This episode of Once Upon a Gene is a little like a cafeteria tray - pick what feeds you and leave what doesn't. Chatting with the zesty, vivacious, and wildly insightful Emma Nadler - psychotherapist, author of The Unlikely Village of Eden, rare mom, and truth teller. Emma has a way of cracking you open with honesty and tenderness, then making you laugh through the tears. We talk about: How storytelling helps us heal and connect Grief, Joy, Love - all living side by side The long-haul reality of caregiving and what it takes to keep going Friendship, community, and the absurdities that keep us human Finding meaning when life reroutes in unexpected ways Emma’s memoir, The Unlikely Village of Eden, is one of those rare books that’s both heart-shattering and heart-rebuilding, leaving you changed in the best way. 📚 Grab Emma’s book📝 Follow her writing on Substack. 📝 Follow her on Instagram
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    54 min
  • 15 Years of Simons Searchlight: Dr. Wendy Chung on How Families Shape Rare Disease Research and Spark Aha Moments - with Wendy Chung

    15 Years of Simons Searchlight: Dr. Wendy Chung on How Families Shape Rare Disease Research and Spark Aha Moments - with Wendy Chung
    Aug 28 2025
    In this conversation, Wendy Chung discusses the evolution of understanding genetic conditions, particularly in relation to autism, and the role of Simons Searchlight in patient advocacy. She emphasizes the importance of community support, global inclusion, and the hope for future therapies. The conversation highlights the significance of family connections and the collective effort in advancing research and treatment options for neurodevelopmental disorders.takeaways The understanding of autism has evolved significantly over the years. Community support is crucial for families dealing with genetic conditions. Simon's Searchlight aims to leverage collective knowledge for better outcomes. Language equity is essential for global participation in research. The importance of early detection and intervention cannot be overstated. Families play a vital role in providing feedback for research. The future of treatments looks promising with ongoing research. Building a supportive community can lead to better advocacy for children. The collaboration among researchers worldwide enhances the potential for breakthroughs. Celebrating milestones like 15 years of Simons Searchlight fosters hope and motivation
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    24 min
  • A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

    A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point
    Jun 12 2025
    ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich’s Ataxia Kyle was diagnosed with Friedreich’s Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben. Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. TUNE INTO THE ONCE UPON A GENE PODCAST ⁠Spotify⁠ ⁠https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7⁠ ⁠Apple Podcasts⁠ ⁠https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347⁠ ⁠Stitcher⁠ ⁠https://www.stitcher.com/podcast/once-upon-a-gene⁠ ⁠Overcast⁠ ⁠https://overcast.fm/itunes1485249347/once-upon-a-gene⁠ CONNECT WITH EFFIE PARKS ⁠Website⁠ ⁠https://effieparks.com/⁠ ⁠Twitter⁠ ⁠https://twitter.com/OnceUponAGene⁠ ⁠Instagram⁠ ⁠https://www.instagram.com/onceuponagene.podcast/?hl=en⁠ ⁠Built Ford Tough Facebook Group⁠ ⁠https://www.facebook.com/groups/1877643259173346/
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    25 min
  • Finding Joy in the Journey: A Guide for Parents of Medically Complex Kids with Amber Pierson & Chelsea Kuhn

    Finding Joy in the Journey: A Guide for Parents of Medically Complex Kids with Amber Pierson & Chelsea Kuhn
    Jun 5 2025
    Discount Code for 20% off: ONCEUPONAGENE Chelsea and Amber of Lemon Cake—two fellow rare moms on a mission—pop in to remind you that even when seizures, meltdowns, and endless therapies feel like they’re winning, there’s still room for belly laughs, tiny victories, and yes, a slice of cake. I had so much fun chatting with these bright lights as they shared how a spontaneous Instagram Live turned into a lifeline for parents of medically complex kids. They unpacked those “garage-floor” prayers, served up bite-sized self-care hacks and showed us how to keep carving out joy in the thick of it. Their brand-new 57-page e-book, "Finding Joy in the Journey", is bursting with real-life stories, practical worksheets (including a simple medical binder template), and reminders that you’re never alone. Grab your copy at makinglemoncake.com and use code ONCEUPONAGENE for 20 % off—because we all deserve a little extra sweetness in our day. You can also find them on Instagram at https://www.instagram.com/makinglemoncake/ to join the Cake Pop community, soak up their bright energy, and maybe one day snag that killer lemon cake recipe. These women are lifting others in the thick of it, and I’m here for every ounce of their glow.
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    43 min
  • From Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency

    From Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency
    May 15 2025
    In this episode, Jeffrey Allen, a passionate advocate for rare disease awareness and a dedicated father to Lucas, who has creatine transporter deficiency. (CTD is also referred to as SLC6A8 Deficiency, CRTR, and X-linked Creatine Transporter Deficiency.Mutations in the SLC6A8 gene result in CTD.While patients with CTD have the necessary AGAT and GAMT enzymes to form creatine, the creatine transporter does not function properly. This results in creatine in the bloodstream, but not in the brain and muscles.) Jeffrey shares his journey of parenting a child with a rare disease, the life lessons he has learned from Lucas, and his experiences participating in the Ruck for Rare and the Beast Games. He emphasizes the importance of community support, advocacy, and the beauty found in challenges. The conversation highlights the significance of genetic testing and awareness for rare diseases, as well as the need for connection and communication among parents in similar situations.
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    33 min