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:

In this episode of Once Upon a Gene, Effie sits down with Dr. Maya Gosztyla

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

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.

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

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