Avsnitt
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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. 💙 -
Saknas det avsnitt?
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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.
Highlights:
The heartfelt origin story of Lottie’s Light Foundation.
Insights into Lottie’s personality, resilience, and the joy she brings to those around her.
How the foundation inspires families to fight for friendships and redefine their dreams.
Samantha and Wesley’s advice on finding your capacity in the hardest moments.
Tips for building friendships and community in the rare disease world.
A reminder of the power of community and the importance of showing up for Rare Disease Day.
Mentioned in This Episode:
Lottie’s Light Foundation Website
Rare Disease Day 2025 in San Diego – Event details coming soon!
Tips for building friendships and community in the rare disease world.
Call to Action:
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.
Highlights:
Dr. Eskandari’s Path to Pediatric Neurosurgery
The Inspiration Behind the Biorepository Project
What Are Biorepositories and Why They Matter
Advocating for Residual Sample Collection
Overcoming Challenges in Setting Up a Biorepository
Data Sharing and Expanding Access
Scaling This Initiative to Other Institutions
Links:
Combined Brain
The Medical University of South Carolina -
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. -
2024 DSF Biennial Family & Professional Conference
June 20th to June 22nd. This three-day gathering united all those committed to improving the lives of individuals with Dravet syndrome – including families, caregivers, clinicians, researchers, and biopharmaceutical professionals. It provided a platform for fostering new relationships and collaborations among families and professionals alike.
Recorded sessions from the conference can be accessed on demand by both virtual and in-person registrants through December 31, 2024.
[email protected] -
Episode Highlights:
Mindy Henderson, a powerful advocate for disability rights and the Director & Editor-In-Chief of MDA's Quest Media. Mindy shares her journey of breaking barriers in the skies, working tirelessly to make air travel more accessible for wheelchair users and the broader disability community. She delves into practical tips for navigating travel with a wheelchair-using child, explains the importance of universal design, and discusses how sharing your story can be a catalyst for change.
Mindy also talks about her book, The Truth About Things That Suck, and the role of mindset in overcoming adversity. Packed with inspiration and actionable advice, this episode is a must-listen for anyone looking to make the world more accessible, one step—or one flight—at a time.
Links:
Connect with Mindy Henderson on LinkedIn: LinkedIn Profile
Learn more about MDA Quest: mdaquest.org
Mindy's book - The Truth About Things That Suck: Amazon Link
Tammy Duckworth - Every Day is a Gift: Amazon Link
Get Involved and Take Action:
Share your story on social media to raise awareness.
Join disability advocacy groups to support accessible travel policies.
Tune in and join us in supporting accessible, inclusive travel!
Airplane Travel Tips from a One Million Mile Traveler
The recent passage of the FAA Reauthorization Act -
ONCE UPON A GENE - EPISODE 133
The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Frances Garber
Mary-Frances Garber is a Genetic Counselor who has a private practice where she offers support to patients and families affected by a rare disease diagnosis. We discuss emotional responses to grief, shame and guilt.
EPISODE HIGHLIGHTS
Where does your career in genetic counseling begin?
I was fortunate to get into the program at Sarah Lawrence College, where the field of genetic counseling originated. I wanted to be a medical provider with a focus on helping people understand genetics. I also enjoyed the counseling side and focused my early career in high-risk obstetrics. I opened my personal practice to provide ongoing supportive care to patients, parents and families who are experiencing something related to genetics, during pregnancy, in pediatric settings or as adults.
How do you help a parent who feels an overwhelming guilt after their child is diagnosed?
I sit with them, I'm present and I listen. Guilt is self-imposed and it's easy to get stuck in guilt and the early stages of depression after a diagnosis. Sometimes it takes time, but my hope is that someone can eventually see that the guilt they feel isn't necessarily the appropriate emotion. I remind patients to be good to themselves and to journal about why they feel guilt so they can take the feelings from their heart and head, put it on the paper and expel or release it.
How is feeling ashamed different from guilt?
Parents sometimes feel ashamed as a result of thoughts they've had about their child. We're all human and we have faults. When we're tired or overwhelmed, we have negative thoughts. Feeling ashamed, just like feeling guilty, isn't justified when you're trying to do your best.
What advice can you share for supporting someone who is going through a genetic diagnosis?
My patients often don't want to share their news because they don't want to be pitied and they don't want to get questioned, especially when they can't answer a lot of questions themselves. Just be there, listen, reflect on what they say, validate their feelings and try not to bombard them with questions.
LINKS & RESOURCES MENTIONED
Listening Reflecting Healing
listeningreflectinghealing.com
Varient App
https://www.varientapp.com/
Once Upon a Gene TV
https://www.thedisordercollection.com/
ONCE UPON A GENE - EPISODE 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
https://effieparks.com/podcast/episode-114-noah-siedman
National Society of Genetic Counselors
nsgc.org
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 -
ONCE UPON A GENE - EPISODE 245
Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie
Mariah Gillaspie is the mom of Abby and Emma, who both have a genetic condition called THAP12, and they're the only known patients in the world. Mariah is the Founder of Lightning and Love and an active rare disease advocate. Most recently, she's shifted her focus to community and established the Colorado Mama Tribe.
EPISODE HIGHLIGHTS
Can you tell us about the Colorado Mama Tribe?
It's been a passion project for me that came out of necessity. When I was new to raising children with rare disease, I was very alone and lost, desperate to find someone who shared a similar story to me. It started with a small group of moms getting together and we've now grown to 400 members. We have monthly meetups for moms, which serves as a social opportunity, but also an opportunity to share and be supported by a community who gets it. We also have a yearly respite retreat and we put together care packages for moms in the hospital with their kids. We recently started providing free group and individual therapy for moms and we've started a bereavement group.
How do you fundraise and support your programming?
As we've grown, we've assembled different committees and we have an amazing fundraising committee who is rocking it. As a board, we largely handle fundraising and logistics to keep events mostly free and subsidized to take the burden off moms so they feel supported and taken care of through our offerings.
What advice do you have for other parents who want to create something for their own community?
It only takes a few people to commit to setting a time and place and showing up. Month after month, more and more people will show up and it can grow naturally. Set up a Facebook group, communicate dates and times and people will come.
How has your self-care shifted through your pivot?
Self care looks different and there's no time for bubble baths or massages right now. Colorado Mama Tribe has been a huge part of my self-care, forcing me to get out of the house, take time for myself away from my family and meet up with friends. I spend time out and about to reset, commiserate and celebrate. Additionally, it makes me feel better connected to my daughters because I'm allowing myself balance.
LINKS & RESOURCES MENTIONED
Colorado Mama Tribe on Facebook
https://www.facebook.com/groups/coloradomamatribe
Lightning and Love
https://www.lightningandlove.org/
ONCE UPON A GENE - Episode 074 - Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation
https://effieparks.com/podcast/episode-074-lightning-and-love-foundation
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/ -
A collection of voicemails from rare disease parents who relate to you situation.
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ONCE UPON A GENE - EPISODE 243
Chasing Glimmers - Electric Love Disability Retreats
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're sharing inspiring stories from the community, life lessons we've learned and exploring how glimmers light our way forward. In this episode, we're joined by Colleen Jendreas, the Founder of Electric Love. Electric Love is a nonprofit resource and support for caregivers, with a focus on adventure retreats, hiking, river rafting and extreme outdoor activities. In the rare disease world, she is sparking change, connecting families and helping them find the glimmers, even in the toughest of times.
EPISODE HIGHLIGHTS
Can you tell us about yourself?
I am the Founder of Electric Love, a resource I developed for caregivers where we connect and go on adventure-style retreats. I'm also raising a kiddo, Owen, who has Lennox-Gastaut Syndrome (LGS), a severe form of Epilepsy. I was catapulted into this world in 2017 and I am out here trying to raise awareness and do something positive for the community that saved me when I was in a dark place.
What have you learned about serving others through raising Owen?
When you're getting a diagnosis, you go through an intense, emotional, traumatic journey and we realize things will be very different from what we imagined. When it happened to me, I was going through extreme depression and I couldn't even get out of bed. There were people I had met through various support networks who provided me guidance and encouragement and they were my lifeline. With their support, I climbed out of a horribly dark place and it changed a lot for me. I started reaching out to others who were going through the same things, and together, we built a connection that just grew from there.
Where did the idea come from to start Electric Love?
It started with me and a few other Epilepsy moms who I connected with on social media. We started video chatting and meeting up, realizing how healing it was to connect and build friendships. When we were talking about our shared interests, we talked about how healing it was to be in nature and how we missed having the time and ability to be outside. It all started with a small group of us going to Zion.
LINKS & RESOURCES MENTIONED
Learn More and Register for Week in RARE (use code FRIENDOFEFFIE)
https://globalgenes.org/week-in-rare/
Electric Love Website
https://electric-love.org/
Electric Love on Instagram
https://www.instagram.com/electric.love.retreats/
Raising Owen on Instagram
https://www.instagram.com/raising_owen/
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/ -
ONCE UPON A GENE - EPISODE 242
Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections
I've been seeing so many online conversations around friendships lately and we've all experienced a ghost ship of friends or people who disappeared or didn't show up for us as we came into the rare disease world. It's an important topic to touch on since so many of us face these friendship challenges. What do we do about it?
EPISODE HIGHLIGHTS
Find your people.
You don't have to let go of old friendships, but it's important to expand your circle to include people who get what life is like for you and your family. Find Facebook groups, explore blogs, reach out to former OUAG guests, or connect with other parents in the waiting room of the doctors offices. Use the power of the internet and social media to find your people.
Remember who you were before rare disease.
It is easy to forget who we were before we were a caretaker. Connecting with close friends to do activities you enjoyed before caretaking was at the center of your purpose can help you grow and keep your essence.
Be intentional.
Think about the friendships you want to cultivate and be very intentional about it. Find the people who get your life and know what it's like, then find the friends you'd connect with if it weren't for rare disease. Be intentional about finding meaningful connections with people you'd be friends with no matter what, even before rare disease.
LINKS & RESOURCES MENTIONED
Learn More and Register for Week in RARE (use code FRIENDOFEFFIE)
https://globalgenes.org/week-in-rare/
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/ -
ONCE UPON A GENE - EPISODE 241
Chasing Glimmers - What's Glimmering with Katie Lloyd
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
Take a break
A break is important to transition away from difficult moments and help you to look back to where you were and where you are. A break and stepping away allows you to see all the wonderful things for what they are, but getting away isn't just taking a vacation or going somewhere. Small, frequent breaks can be really helpful too. Consider what's logistically possible and be realistic about how to take a break.
Small scale, big impact
Take a nap during the day, and if you can't, lay on a yoga mat and just rest. Distract your kids in a way that carves out time to exercise. Take off your shoes and socks and go outside. Get grounded with Mother Earth and be in nature. Using breathing exercises can help to calm your nervous system and allow you a moment to re-group. Tap into the network of those you trust to give you a break from caregiving.
The generous rare disease network
I became friends with someone in the US and she made a beautiful baby blanket for me. Shipping the blanket was going to be really expensive and my friend didn't know how to get it to me. Another friend of mine happened to be visiting the US and has since brought the blanket back with her to Switzerland for me. I'm so grateful for beautiful people doing wonderful things.
For the love of focaccia
In the last year, I've been making bread, trying to perfect focaccia. I nailed it the other day and I was so proud of myself. It was the crispiest, fluffiest, most beautiful focaccia I have ever made and I now I want to make it for everyone on my street.
LINKS & RESOURCES MENTIONED
Learn More and Register for Week in RARE (use code FRIENDOFEFFIE)
https://globalgenes.org/week-in-rare/
ONCE UPON A GENE - EPISODE 237 - Join Us for The Global Genes Week In Rare
https://effieparks.com/podcast/episode-237-week-in-rare-2024
Look Again: The Power of Noticing What Was Always There
https://www.amazon.com/Look-Again-Power-Noticing-Always/dp/1668008203
Tender
https://www.amazon.com/Tender/dp/1529331218
Do Walk: Navigate earth, mind and body
https://www.amazon.com/Do-Walk-Navigate-earth-body/dp/1907974962
Marco Polo
https://www.marcopolo.me/
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/ - Visa fler
