308 episodes

As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.

Once Upon A Gene Effie Parks

    • Society & Culture
    • 5.0 • 261 Ratings

As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.

    Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd

    Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd

    ONCE UPON A GENE - EPISODE 234
    Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd

    This new series, 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

    Katie, what is your vision for this series?
    I think many caregivers to family members who have rare diseases, or perhaps they have a rare disease themselves, find themselves in a really dark place initially. It feels like you're in a deep trench where everything feels hopeless and scary. I'm not really in that place anymore, life has moved on a little bit, and I see things differently. I feel differently from how I did four years ago. But some of the narratives I see online tend to stay in that deep, dark place, surrounded by a lot of negativity. What I would love to see is people who change that narrative, who bring light and joy to their communities, despite all the terrible things that are happening.

    Effie, can you talk about the stories we want to share and what we want to pull from the community?
    I want to feature stories from the community about when someone inspires you to be brave, or stories about perspective changes and parent positivity. I believe we rise by lifting others and even celebrating someone's achievement or highlighting someone's inspiring content shifts the narrative. The bead doesn't need to be hidden, but the good needs to be highlighted. We'd love to hear stories of bravery and community connection, how positivity has affected you, how situations have manifested into new relationships and circumstances. We want to hear about the little Glimmers and the big ones too.

    Effie, what is your advice for protecting yourself from negativity?
    As a caregiver who was so sad, disconnected and deeply isolated, I reached out through podcasting and got everything I needed without giving anything, because I didn't have anything to give at the time. Through this, I found my community and my people. When you're in the thick of it, you need support and embrace, and that's what listening to other people's stories did for me. My advice is to seek out a space where you can just receive, like this podcast.

    Katie, what would you like to leave our friends with today?
    Please don't look at this as a crusade against all negativity, because sometimes things just aren't wonderful. Instead, start to take notice of glimmers that are happening in your life and see what happens if you turn your attention to it.

    LINKS AND RESOURCES MENTIONED
    HNRNP Family Foundation
    https://www.hnrnp.org/
    ONCE UPON A GENE - Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd
    https://effieparks.com/podcast/episode-125-katie-lloyd


    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.fac
    ebook.com/groups/1877643259173346/

    • 44 min
    Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing

    Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing

    ONCE UPON A GENE - EPISODE 233
    Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing

    LINKS AND RESOURCES MENTIONED
    Project Findout
    https://projectfindout.org/

    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/

    • 8 min
    Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC

    Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC

    ONCE UPON A GENE - EPISODE 232
    Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC

    Abby Turnwald is a genetic counselor here to talk about genetic testing and the crucial role genetic counselors play in guiding families through the complexity of genetic testing and understanding the results. We'll discuss what parents can expect for their first appointment, the importance of seeking a referral, tips for navigating insurance coverage and the significance of re-analyzing genetic reports. 

    EPISODE HIGHLIGHTS

    What is genetic testing and what does the first appointment involve?
    Genetic counseling appointments are for a specific reason, condition, or symptom and can be with just a genetic counselor or with a genetic counselor and a geneticist, which is a physician. A genetic counselor will gather intake information about your child's medical history, family history and developmental history. They will also discuss genetic testing options and answer any questions you may have. Depending on insurance, sometimes genetic testing will happen at the first appointment, and sometimes it will require prior authorization. A physician may do a physical exam and work closely with the geneticist to determine the best plan for your child. 

    Why is it important for parents to consider doing genetic testing?
    There's a lot more to a diagnosis because there's likely a genetic cause. Finding a genetic cause can be helpful in parents not holding onto any guilt they may feel. It can also open you up to a community for specific conditions where other parents are actively advocating for their children. Other genetic conditions may have health conditions parents may not know about, so it's important to know. Genetic testing can tell you the recurrence risk if parents are considering growing their family. Even if we don't find a genetic answer, it rules out a lot of other genetic conditions and that can be helpful for your care team. 

    Can you talk about the barriers to genetic testing and how to overcome them?
    The biggest barrier is the wait time to get to genetic testing after you have a referral. It's often about a year, but go ahead and schedule it and look for other places you may be able to go. You can also ask your provider to order genetic testing before you see genetics. If your doctor doesn't think genetic testing is necessary, ask for the referral anyways. Genetic testing should be for anyone who has symptoms that are unexplained. Most insurance covers genetic testing now, but if a claim is denied it can be appealed. There are also more and more labs offering sponsored genetic testing if your child meets certain criteria. 


    LINKS AND RESOURCES MENTIONED
    Project Findout
    https://projectfindout.org/
    Probably Genetic
    https://www.probablygenetic.com/
    CTNNB1 Connect & Cure
    https://curectnnb1.org/
    NSGC Find A Counselor Directory
    https://findageneticcounselor.nsgc.org/
    Follow Abby Turnwald on Instagram
    https://www.instagram.com/pedsgcabby/


    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/

    • 27 min
    The Power of Genetic Diagnosis - More Than Just a Label

    The Power of Genetic Diagnosis - More Than Just a Label

    • 11 min
    Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick

    Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick

    ONCE UPON A GENE - EPISODE 230
    Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick

    Nikki Stusick is the mom of a child with an initial VUS diagnosis and then a different pathogenic diagnosis. We talk about the complexities of balancing advocacy work, family life, when to choose one over the other and when to take a break.

    EPISODE HIGHLIGHTS

    Can you tell us about yourself and your diagnostic journey?
    I am a mom of three children and my oldest, Theo, was diagnosed a month after his first birthday with a rare condition called TBCK Syndrome. We started a foundation to build a community. Then, four years later, we found out that one of the genetic mutations offered a different diagnosis. With the misdiagnosis, we have been at a crossroads because we have built and grew a community for the initial diagnosis, but our advocacy efforts need to shift. We have been working to put the right people in place to carry the foundation forward and I'm still figuring out at what level I want to stay engaged.

    How do you navigate and find balance between spending time with family and also your advocacy efforts?
    When Theo was diagnosed, I jumped into advocacy to heal and cope and that's how I've learned to channel my emotions into something tangible and taking action helped me. In the last two years, I've felt like I am missing out on time with my kids and I've had to take a step back from advocacy a bit to just be a mom. I have no regrets for outsourcing care to do advocacy work and I'm grateful to be a part of the community, but I want to be clear on what makes sense for this chapter of our lives and what my goals are. I'm figuring it all out as I move through it.

    Have you felt societal pressures about how to balance family and advocacy and how do you validate your advocacy commitments?
    I feel lucky that everyone around us is supportive and has shown up for us in many ways. If anything, I've been my harshest critic. I push when I can and I don't beat myself up when I have low energy or high emotion days.

    What advice do you have for parents trying to balance family and advocacy?
    Listen to the touchstones you come back to, your inner voice, because that's your truth. Have self-compassion and don't beat yourself up as you find balance and determine what your family needs are.

    LINKS AND RESOURCES MENTIONED
    Librarey
    https://www.librarey.com/
    The TBCK Foundation
    https://www.tbckfoundation.org/


    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.fac
    ebook.com/groups/1877643259173346/

    • 36 min
    Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber

    Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber

    ONCE UPON A GENE - EPISODE 229
    Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber

    Frances Muenzer Pimentel and Sophia Zilber have united the Hope for PDCD Foundation and the Cure Mito Foundation to launch a global joint registry and they're here to share about the collaboration.

    EPISODE HIGHLIGHTS

    What is a registry and why does a patient group need to have one?
    A registry is a way to organize data as it relates to a particular disease. It's useful to bring the community together to learn where patients are in the world, aligning patients with clinical trials, and monitoring how a disease progresses over time. Sharing and publishing results collected in the registry also helps to bring awareness about the disease. 

    What inspired the launch of a joint registry?
    Our populations have an overlap in patients and we wanted to make it as easy as possible for patients and caregivers to participate in the registry. In addition to centralizing the registry overlap, we've made the process optimized for mobile, all in one place and as seamless as possible. 

    What is the importance of participating in a registry and a natural history study?
    Participating in a registry and natural history study are among the most important things you can do to contribute to the research of your disease. It doesn't cost anything but your time and there's no better way to get an accurate count of the patient population than through patient registries. This tool helps with having conversations with biotech companies and to prove that you're a commercially viable disease. 

    What is next for the registry and what are your goals?
    We still have a lot of work left to evangelize the registry and educate our community on the difference between a registry and natural history study, explaining how crucial they both are. The work we're doing with the registry combined with newborn screening advocacy and we won't be able to be ignored anymore. 

    How can rare disease families start a registry?
    There's a working group called Best Data Practices for Rare Disease Patient Foundations and Researchers on PHUSE with resources available on how to start a registry. The materials are easy to read and follow and they're available to everyone. 

    LINKS AND RESOURCES MENTIONED
    Global Genes Conference - Week in RARE
    https://globalgenes.org/week-in-rare/
    ONCE UPON A GENE - EPISODE 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
    https://effieparks.com/podcast/episode-228-strength-in-unity
    ONCE UPON A GENE - EPISODE 194 - A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber
    https://effieparks.com/podcast/episode-194-a-guide-for-rare-disease-patient-advocacy-groups
    Patient registries: a practical guide for patient organizations
    https://sophiazilber.gumroad.com/l/registries
    Hope for PDCD Foundation
    https://www.hopeforpdcd.org/
    Cure Mito Foundation
    https://www.curemito.org/
    CoRDS
    https://cords.sanfordresearch.org/account/login
    Best Data Practices for Rare Disease Patient Foundations and Researchers
    https://advance.phuse.global/display/WEL/Best+Data+Practices+for+Rare+Disease+Patient+Foundations+and+Researchers


    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/

    • 35 min

Customer Reviews

5.0 out of 5
261 Ratings

261 Ratings

Rocket's Mom ❤️ ,

I love this podcast

Effie is such a kind and beautiful human! Once Upon a Gene has helped me realize that I am not alone. I love that she also encourages self care (she even started a fun walking club). Her podcast talks about so many different topics and I have learned so much from her and the guests on her show!

Kate Kostolansky ,

Must-listen!

Effie has a way of making some really hard and raw conversations feel warm and less scary. Her presence, love and strength in this community is invaluable. This podcast should be a must-listen for any parent looking to explore the disability community but especially if your child has a rare condition. Listening feels like a hug - thanks for creating this space, Effie!!! <3

GoodShepperd5512 ,

Tremendous Podcast That’s Raising Awareness

Being podcasters we don’t always have the benefit of knowing who we may be impacting
or how we maybe making a difference to our listeners.

We recently learned of Effie and Once Upon a Gene. The difference this podcast in making in the lives of the families and children who’ve been diagnosed with a rare gene disease is immeasurable as is the awareness that it is bringing to parent caregivers who are often left voiceless and unseen.

We’re now avid supporters of Once Upon a Gene and the work and advocacy that they stand for.

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