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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/

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

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.

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

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

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/

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.

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.

In this episode of Once Upon a Gene, I’m joined again by rare mom and powerhouse advocate Gay Grossman. Gay works at GeneDx—home to one of the largest clinical genomic databases—and she’s here to share two exciting updates that could change everything for rare families and patient advocacy orgs. We talk about: GeneDx’s new commitment to the cerebral palsy community and why every CP diagnosis deserves a genetic test How families can access exome and genome testing through telehealth The launch of the Discover Snapshot, a tool designed to help rare orgs find, understand, and grow their communities using real genomic data We also dive into why many CP, autism, and epilepsy diagnoses are just the beginning—and how getting to the root cause can open doors to treatments, clinical trials, and life-changing connection. 🔗 Resources & Links: Request your Patient Count or Discover Snapshot: [email protected] Learn more about genetic testing and CP: GeneDx.com Access testing through Genome Medical: Genome Medical Key Topics: Genetic testing access and equity Ending the diagnostic odyssey for CP Empowering patient advocacy orgs with data How to use genetic diagnoses to unlock treatment options The power of community and connection

Turning Kids into Superheroes of Science with O’Ryan Health The world of pediatric autoimmune and rare diseases can feel isolating—especially when answers live behind hospital walls or research centers far from home. But what if science came to you? What if kids could lead the charge in reimagining care? In this episode, I’m joined by Dr. Tim Coleman, co-founder and COO of O’Ryan Health, a company flipping the script on pediatric research. Their breakthrough Artemis Platform is a child-friendly, at-home blood collection and logistics system that supports autoimmune, rare disease, and routine lab testing—making it possible for families to contribute to science and receive care without ever stepping into a hospital or lab. Tim and his team are building something extraordinary: a world where kids become superhero scientists, collecting blood samples at home with a virtually painless device, and helping unlock breakthroughs in real time. Inspired from the lived experience of co-founder Michael Parnell, whose daughter battles juvenile myositis, O’Ryan Health isn’t just a company—it’s a movement, empowering families to drive discovery and rewrite the future of pediatric healthcare. We talk about:  Why families should lead—not follow—in pediatric research  How at-home blood sampling could power new diagnostics, treatments, and even cures  The vision of a future where all pediatric blood work happens at home If you’ve ever dreamed of a healthcare system that sees, hears, and respects your child—this conversation is for you. Learn more and become a superhero family at oryan.health Follow along on Instagram: @oryan.health

In this heartfelt conversation, Heather Straughter shares her profound journey through grief after the loss of her son, Jake. She discusses the pivotal moments that shaped her path, the importance of community support, and the ongoing nature of grief. Heather reflects on the complexities of acknowledging loss, the unexpected triggers that can arise, and her evolving perspective on grief hierarchies. Through her experiences, she emphasizes the significance of finding one's own way to cope and the power of humor in navigating the dark moments of grief. In this conversation, Heather Straughter shares her personal journey through grief after the loss of her son, Jake. She discusses societal expectations surrounding grief, the dual nature of grief as both painful and transformative, and the importance of community support. Heather also talks about the creation of her podcast, 'A Place of Yes,' aimed at sharing stories of families dealing with similar challenges, and her mission to help families navigate the complexities of caring for children with special needs. The conversation emphasizes the need for compassion, understanding, and proactive support for grieving families. Follow: Jake's Help From Heaven A Place Of Yes Podcast on Instagram Chapters 00:00 Introduction and Personal Connection 01:41 The Impact of Grief on Life Choices 02:50 Navigating Grief and Community Support 08:21 The Ongoing Nature of Grief 10:33 The Complexity of Grief and Acknowledgment 12:26 Triggers and Unexpected Moments of Grief 15:59 The Hierarchy of Grief 18:23 Coping Mechanisms and Humor in Grief 22:09 The Dark Side of Grief 24:22 Unspoken Aspects of Grief 26:07 Finding Your Own Path in Grief 29:20 Navigating Grief: Societal Expectations and Personal Experiences 32:43 The Dual Nature of Grief: Pain and Growth 36:47 Creating a Supportive Community: The Birth of a Podcast 42:06 Expanding the Mission: Helping Families Beyond Local Boundaries 54:16 Words of Comfort: Supporting Grieving Families

Reimagining Pediatric Care with Imagine Pediatrics For families of medically complex kids, the healthcare system often feels broken—long hospital stays, insurance battles for basic needs, and constant caregiving without real support. But what if there was a better way? In this episode, I’m joined by Taylor Beery, co-founder of Imagine Pediatrics, Jody Copp, a full-time rare disease dad of two boys with Combined oxidative phosphorylation deficiency type 13 associated with a mutation in the PNPT1 gene and whose family has experienced firsthand the impact of their care model. Imagine Pediatrics is changing the game by providing 24/7, in-home, virtual-first medical care designed to keep kids safe at home—not in the hospital. He also has a rad foundation that we will chat about in a future episode: Raising Wheels Foundation If you are in Texas, Florida, and District of Columbia you have access to Imagine Pediatrics! We discuss: 💙 The problems with the current healthcare system for medically complex kids 💙 Why "safe days at home" should be the goal of pediatric care 💙 How Imagine Pediatrics partners with families rather than making them fight for care 💙 The economic case for home-based care and why insurance should want this model 💙 Walker’s legacy— how Taylor’s son inspired a movement to improve pediatric healthcare Kids Join the Fight 🔗 Listen now & share with families who need this

Service dogs are often associated with guiding the blind or assisting with mobility, but their impact goes far beyond traditional roles. In this episode, I’m joined by Sue Bresnahan, a pediatric nurse and rare mom, whose son has CACNA1C-related disorder (Timothy Syndrome). When they welcomed Yammy, his service dog, into their family, everything changed. Yammy didn’t just provide companionship—he unlocked a level of independence and confidence that Sue never imagined possible for her son. Sue shares their journey, the process of getting a service dog, and why families of kids with disabilities should consider this life-changing support. If you’ve ever wondered how a service dog could help a child beyond the traditional reasons, this episode is for you. In This Episode, We Discuss: ✔️ Sue’s journey as a rare mom and navigating CACNA1C-related disorder (Timothy Syndrome) ✔️ The unexpected ways service dogs can support kids with disabilities ✔️ How Yammy transformed her son’s independence and confidence ✔️ The process of getting and training a service dog ✔️ What families should know before pursuing a service dog ✔️ Overcoming challenges and misconceptions about service dogs ✔️ Advice for families considering a service dog Resources & Links: 📌 Learn more about CACNA1C-related disorder (Timothy Syndrome) 📌 Service Dog Organizations & Resources - ECAD 📌 Connect with Sue Bresnahan - Instagram 📌 Want to support Once Upon a Gene? Leave a review on Apple Podcasts & share this episode!

I’m joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms, how this technology is helping families solve their diagnostic odyssey, and why some genetic tests miss key information that PacBio can detect. Plus, if you've already had whole genome sequencing without finding an answer, Christian explains why it might be time to take another look. We also dive into the future of genetic testing, what needs to change for sequencing to become a routine part of medical care, and how families and advocates can help drive progress forward. This episode is all about hope, science, and the relentless pursuit of answers. Happy Rare Disease Day, and thank you for being part of this incredible community! Topics Covered: ✅ What is long-read sequencing, and how is it different from traditional genetic testing? ✅ How PacBio’s technology is solving rare disease mysteries faster and more accurately. ✅ Why some families don’t get answers from whole genome sequencing—and why they should consider trying again. ✅ The biggest barriers to making genetic testing more accessible and routine in rare disease care. ✅ How long-read sequencing could help lead to future treatments, not just diagnoses. ✅ What the next five years of genomic sequencing could look like. ✅ How rare disease families and advocacy groups can collaborate with PacBio to accelerate discoveries. Resources & Links: 🔗 Learn more about PacBio and long-read sequencing: https://www.pacb.com/ 🔗 Follow PacBio on X: @PacBio 🔗 More about Rare Disease Day: www.rarediseaseday.org 💬 Join the Conversation! Have you been on a diagnostic odyssey? Have questions about genetic testing? Share your thoughts and experiences with me on Instagram 🎧 Listen & Subscribe: Don’t forget to subscribe so you never miss an episode! If you love the show, leave a review—it helps more rare disease families find these conversations. 💙

As caregivers, we give everything to our kids—but where does that leave us? Burnt out, exhausted, and running on fumes. If you’ve ever felt like you don’t even know where to start when it comes to your own health, this episode is for you. I’m talking with Fraser Bridgeman, a fellow CTNNB1 mom and a functional integrative health practitioner, about the small but powerful changes we can make to support our own well-being. Fraser understands the unique challenges rare disease caregivers face—chronic stress, poor sleep, inflammation, and running on adrenaline for years at a time. She’s sharing practical, realistic ways to prioritize your health so you can show up for your child without running yourself into the ground. In this episode, we discuss: ✨ The most common health issues caregivers face (and how stress affects the gut, sleep, and hormones) ✨ How to make small, sustainable changes—even when you’re overwhelmed ✨ Easy food swaps to support energy, gut health, and stress resilience ✨ Practical ways to improve sleep and manage cortisol levels ✨ How movement, breathwork, and mindfulness can help regulate a taxed nervous system ✨ The mindset shift that will help you prioritize your own health without guilt Listen now and take the first step toward caring for yourself—because you matter, too. Follow Fraser on Instagram Fraser's Integrative Health Website