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.

✔️ 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

📌 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!

✅ 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.

🔗 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

In this powerful episode of Once Upon a Gene, I sit down with James Griffin, author of Breaking Silence: Living With Sickle Cell Anemia. Diagnosed at just two years old, James spent much of his life keeping his condition a secret, fearing how others would perceive him. He faced excruciating pain, hospitalizations, and the daily challenges of living with a chronic illness—all while navigating school, friendships, and a world that often didn’t understand his struggles.

Now, as an advocate and author, James is using his voice to raise awareness, empower others with sickle cell disease, and push for better care, research, and understanding. In this conversation, he shares what it was like growing up with sickle cell, the language he’s learned to use in emergency rooms to be taken seriously, and how he found the courage to finally open up about his diagnosis.

Whether you or a loved one are affected by sickle cell disease, or you simply want to hear an inspiring story about resilience and advocacy, this episode is for you.

In this inspiring episode of Once Upon a Gene, I sit down with Samantha and Wesley Rogers, founders of Lottie’s Light Foundation, and proud parents of the incredible Lottie, who lives with a CERT1 mutation. The Rogers share the heartfelt story of how their journey with Lottie led to the creation of a foundation dedicated to empowering families, fostering connections, and encouraging others to find strength in the face of challenges.

We explore how their mission encourages fighting for meaningful friendships, dreaming new dreams, and discovering untapped capacity for love and purpose. This conversation will leave you uplifted, motivated, and ready to celebrate the light that shines in every rare journey.

Let’s spread the light! Share this episode with your friends and community to celebrate the resilience, strength, and brilliance of the rare disease journey. If you’re in San Diego or feeling adventurous, join us for Rare Disease Day 2025! Details coming soon.

As always, don’t forget to rate, review, and subscribe to Once Upon a Gene. Your support helps bring these powerful stories to more ears!

In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variants of Uncertain Significance (VUS) and offers insight into talking with family members about genetic risks and results.

Throughout our chat, Natalie emphasizes that knowledge truly is power when it comes to family planning and navigating the complexities of genetic information. We discuss strategies for deciding between natural pregnancy, IVF with genetic screening, and other alternatives, helping you feel more confident and informed about your options.

Whether you’re just beginning your journey or seeking clarity in the midst of it, this episode offers valuable perspectives and heartfelt advice. Join us as we learn how to take charge of our genetic health and family-planning decisions with compassion and confidence.

Finally, don’t forget about the Once Upon a Gene Revival—an uplifting event designed to support, educate, and connect rare disease caregivers. Registration is open now on my website.

Links:

JScreen Genetic Testing Instagram

Once Upon A Gene Revival

Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari

In this episode, I’m joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares how his dedication to helping children and families has driven him to create a system that collects and preserves valuable CNS samples—residual materials that would otherwise be discarded. We discuss the incredible impact of these efforts on the future of rare disease therapeutics and how families can play an active role in advancing research.

Links:

Combined Brain

The Medical University of South Carolina

Links & Resources:

Follow Their Journey on Social Media

KCAL News Story

• Watch the in-depth feature on their family’s advocacy here: KCAL Rare Disease Coverage

Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light our way forward. Let's chase those glimmers together!

EPISODE HIGHLIGHTS:

Effie & Katie welcome guest Megan Gillet. Her daughter, Nellie, endures terminal Infantile MLD. Megan shares her unique journey of embracing life in all its vibrant complexity. Megan opens up about living with grief, disability, parenting challenges, fashion passions, crafting pursuits, and her love of nature—without confining herself to a single niche. She explains what it means to let life unfold authentically, finding the courage to sidestep society’s labels and expectations.

Through candid conversation, Megan reveals her family’s determination to savor each moment, knowing that some of the hardest challenges lie ahead. It’s a powerful reminder that truly living isn’t about fitting into a box, but rather about spilling beyond its edges, leaving a trail of color, hope, and hard-won joy. Tune in for an inspiring glimpse into a life that refuses simple definitions—and learn how you, too, can find beauty and meaning in every shade of your own journey.

Dear Friends,

The holidays can be a beautiful time of connection, joy, and celebration—but for caregivers, it can also be a season that amplifies the weight we carry every day. The expectations, the comparisons, the logistics of making life work for our kids—it all feels louder somehow.

This episode is my friendship letter to you, my fellow caregivers, during this holiday season. It’s for the days when the to-do lists are endless, the appointments keep coming, and the social invitations feel more isolating than joyful. It’s for the moments when you catch yourself scrolling through social media, comparing your life to others, and questioning if you’re doing enough—or if you’re enough.

Spoiler: You are.

I recorded this as a 10-minute refuge for you—a place to breathe, to feel seen, and to remind yourself that you are not alone. Together, we’re navigating the chaos, the exhaustion, and the love that grounds it all.

If you’re like me, you might feel the weight of it all a little more during this time of year. Maybe you’re thinking about your child’s progress or lack thereof, or the struggle to attend even the simplest gatherings without feeling out of place. I see you. I feel you. And I hope this episode feels like a warm hug and a reminder that you’re doing an extraordinary job in an extraordinary situation.

Every day you carry your child—physically, emotionally, and mentally—is a gift. It’s heavy, yes. But it’s also rooted in a love that’s unshakable.

Take a moment, my friend. This one is for you.

With love and gratitude,

Effie 💛

P.S. If this episode resonates, share it with another caregiver who might need it. We’re stronger when we remind each other we’re not alone.