Jim Bacarro and Saab Magalona started one of the first local podcasts back in 2018. From debates about trashy reality shows to talking about the importance of voter registration, they have cultivated quite an engaged community who have dubbed them their /podparents/. Jim and Saab may be the ones doing the talking but they definitely make their listeners feel heard.
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Player FM - Internet Radio Done Right
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Effie Parks에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 Effie Parks 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.
Once Upon A Gene와 비슷한 콘텐츠
Have you ever found a note on the ground, maybe meant for someone else? Help Davy Rothbart solve these mysteries on the FOUND Podcast, where we explore personal stories of love, loss, hope, transformation and aspiration through the lens of lost and found notes --with the power of humor and music. Produced by Found The Musical / Killer Films Media / Wondery. Binge all episodes of Found exclusively and ad-free by joining Wondery+ in the Wondery App, Apple Podcasts or Spotify. Start your free t ...
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Imperfect Paradise is an award-winning weekly narrative podcast showcasing California stories with universal significance, hosted by Antonia Cereijido. Each deeply reported story is driven by characters who illuminate aspects of American identity and underscore California's reputation as a home for dreamers and schemers, its heartbreaking inequality, its varied and diverse communities, its unique combination of dense cities and wild places. New episodes premiere Wednesdays, with broadcasts o ...
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As She Rises brings together local poets and activists from throughout North America to depict the effects of climate change on their home and their people. Each episode carries the listener to a new place through a collection of voices, local recordings and soundscapes. Stories span from the Louisiana Bayou, to the tundras of Alaska to the drying bed of the Colorado River. Centering the voices of native women and women of color, As She Rises personalizes the elusive magnitude of climate cha ...
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Every house is haunted. In each episode of Family Ghosts, we investigate the true story behind a mysterious figure whose legend has followed a family for generations. Grandmothers who were secretly jewel smugglers, uncles who led double lives, siblings who vanished without a trace, and other ghostly characters who cast shadows over our lives in ways that might not be immediately obvious. We are all formed in part by our familial collections of secrets, intrigues, and myths. By engaging with ...
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Explore Something New. Interviews on Science, Sex, Society and Sports. From CERN Particle Physicists and Professional Casino Cheats to Erotic Hypnotists and Olympic Athletes, every week we sit down with a guest from a different walk of life. The story is never the same but the goal always is, to learn something new. Named Best Interview Podcast in 2023, nominated in 2021 and 2022.
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Stephen Fry's 7 Deady Sins - I will take each one of the Seven Sins in turn, lay them out on the surgical table and poke, prod, pry and provoke in an attempt to try to anatomise and understand them; I hope and believe it will be, if nothing else, delicious fun and something of a change from the usual run of podcastery. Hosted on Acast. See acast.com/privacy for more information.
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Love is more than you think. From the creators of Criminal. New episodes twice a month. Part of the Vox Media Podcast Network.
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TRUE Ghost stories, hauntings, shadow people, demons, UFOs, cryptids and more! Everyday people share their personal stories of paranormal phenomena. This feed reflects the last 90 days of content, Jim Harold's Campfire has been in production since 2009 with over 660 episodes. Hosted by Jim Harold.
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Rabbi Shalom Rosner on The Parsha
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All About Change
1 Eli Beer & United Hatzalah: Saving Lives in 90 seconds or Less 30:20
30:20 
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좋아요Eli Beer is a pioneer, social entrepreneur, President and Founder of United Hatzalah of Israel. In thirty years, the organization has grown to more than 6,500 volunteers who unite together to provide immediate, life-saving care to anyone in need - regardless of race or religion. This community EMS force network treats over 730,000 incidents per year, in Israel, as they wait for ambulances and medical attention. Eli’s vision is to bring this life-saving model across the world. In 2015, Beer expanded internationally with the establishment of branches in South America and other countries, including “United Rescue” in Jersey City, USA, where the response time was reduced to just two minutes and thirty-five seconds. Episode Chapters (0:00) intro (1:04) Hatzalah’s reputation for speed (4:48) Hatzalah’s volunteer EMTs and ambucycles (5:50) Entrepreneurism at Hatzalah (8:09) Chutzpah (14:15) Hatzalah’s recruitment (18:31) Volunteers from all walks of life (22:51) Having COVID changed Eli’s perspective (26:00) operating around the world amid antisemitism (28:06) goodbye For video episodes, watch on www.youtube.com/@therudermanfamilyfoundation Stay in touch: X: @JayRuderman | @RudermanFdn LinkedIn: Jay Ruderman | Ruderman Family Foundation Instagram: All About Change Podcast | Ruderman Family Foundation To learn more about the podcast, visit https://allaboutchangepodcast.com/ Looking for more insights into the world of activism? Be sure to check out Jay’s brand new book, Find Your Fight , in which Jay teaches the next generation of activists and advocates how to step up and bring about lasting change. You can find Find Your Fight wherever you buy your books, and you can learn more about it at www.jayruderman.com .…
Once Upon A Gene
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Effie Parks에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 Effie Parks 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.
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.
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Effie Parks에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 Effie Parks 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.
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.
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Once Upon A Gene
1 GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman 32:49
32:49 나중에 재생 나중에 재생 리스트 좋아요 좋아요32:49
나중에 재생 나중에 재생 리스트 좋아요 좋아요In 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 : advocacy@genedx.com 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…
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Once Upon A Gene
1 Empowered Kids - Painless Labs :O'Ryan Health’s At‑Home Blood‑Draw Revolution with Tim Coleman 34:00
34:00 나중에 재생 나중에 재생 리스트 좋아요 좋아요34:00
나중에 재생 나중에 재생 리스트 좋아요 좋아요Turning 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…
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Once Upon A Gene
1 Navigating the Complexities of Grief: How One Mother’s Grief Birthed a Supportive Community with, Heather Straughter. 53:11
53:11 나중에 재생 나중에 재생 리스트 좋아요 좋아요53:11
나중에 재생 나중에 재생 리스트 좋아요 좋아요In 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…
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Once Upon A Gene
1 Reimagining Pediatric Healthcare: How Imagine Pediatrics is Revolutionizing In-Home Medical Care for Medically Complex Kids and Lightening the Load for Families - Taylor Beery and Jody Copp 44:38
44:38 나중에 재생 나중에 재생 리스트 좋아요 좋아요44:38
나중에 재생 나중에 재생 리스트 좋아요 좋아요Reimagining 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…
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Once Upon A Gene
1 How a Service Dog Helped a Child with CACNA1C-Related Disorder (Timothy Syndrome) Gain Independence – with Sue Bresnahan 32:21
32:21 나중에 재생 나중에 재생 리스트 좋아요 좋아요32:21
나중에 재생 나중에 재생 리스트 좋아요 좋아요Service 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!…
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Once Upon A Gene
1 Unlocking Rare Disease Diagnoses with PacBio’s Long-Read Sequencing – A Conversation with CEO Christian Henry 33:32
33:32 나중에 재생 나중에 재생 리스트 좋아요 좋아요33:32
나중에 재생 나중에 재생 리스트 좋아요 좋아요I’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. 💙…
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Once Upon A Gene
1 Prioritizing Caregiver Health: Gut Health, Stress, and Sustainable Wellness for Parents of Kids with Disabilities – with Integrative Health Practitioner & CTNNB1 Mom, Fraser Bridgeman 45:09
45:09 나중에 재생 나중에 재생 리스트 좋아요 좋아요45:09
나중에 재생 나중에 재생 리스트 좋아요 좋아요As 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…
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Once Upon A Gene
1 Breaking the Silence: Growing Up with Sickle Cell, Facing Pain, and Finding Strength Through Advocacy with James Griffin 33:24
33:24 나중에 재생 나중에 재생 리스트 좋아요 좋아요33:24
나중에 재생 나중에 재생 리스트 좋아요 좋아요In 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.…
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Once Upon A Gene
1 Lighting the Way: A Story of Love, Friendship, and Finding New Dreams - CERT1 w/ Samantha & Wesley Rogers 38:56
38:56 나중에 재생 나중에 재생 리스트 좋아요 좋아요38:56
나중에 재생 나중에 재생 리스트 좋아요 좋아요In 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!…
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Once Upon A Gene
1 Preconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer 42:57
42:57 나중에 재생 나중에 재생 리스트 좋아요 좋아요42:57
나중에 재생 나중에 재생 리스트 좋아요 좋아요In 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…
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Once Upon A Gene
1 Transforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples 39:57
39:57 나중에 재생 나중에 재생 리스트 좋아요 좋아요39:57
나중에 재생 나중에 재생 리스트 좋아요 좋아요Show 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…
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Once Upon A Gene
1 Eight Years of Searching: A Determined Family’s Quest to Cure an Ultra-Rare CLCN6 Mutation with Kristin & Paul Purdy 31:30
31:30 나중에 재생 나중에 재생 리스트 좋아요 좋아요31:30
나중에 재생 나중에 재생 리스트 좋아요 좋아요Links & Resources: Follow Their Journey on Social Media Facebook: Paxtons Pioneers Instagram: Paxtons_Pioneers KCAL News Story Watch the in-depth feature on their family’s advocacy here: KCAL Rare Disease Coverage
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Once Upon A Gene
1 Chasing Glimmers - From Grief to Glitter: Parenting Through Infantile MLD and Embracing Life’s Full Spectrum - with Megan Gillet 36:21
36:21 나중에 재생 나중에 재생 리스트 좋아요 좋아요36:21
나중에 재생 나중에 재생 리스트 좋아요 좋아요Chasing 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.…
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Once Upon A Gene
1 The Gift of Grace: A Holiday Heart-to-Heart for Caregivers 10:53
10:53 나중에 재생 나중에 재생 리스트 좋아요 좋아요10:53
나중에 재생 나중에 재생 리스트 좋아요 좋아요Dear 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.…
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Once Upon A Gene
1 Grateful Reflections for Epilepsy Awareness Month: Parents Share Love, Lessons, and Insights from the Dravet Syndrome Community 2:36:33
2:36:33 나중에 재생 나중에 재생 리스트 좋아요 좋아요2:36:33
나중에 재생 나중에 재생 리스트 좋아요 좋아요2024 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. conference@dravetfoundation.org…
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Once Upon A Gene
1 Ready for Take Off: Mission for Accessible Air Travel & Disability Advocacy, with Mindy Henderson 37:06
37:06 나중에 재생 나중에 재생 리스트 좋아요 좋아요37:06
나중에 재생 나중에 재생 리스트 좋아요 좋아요Episode 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…
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Once Upon A Gene
1 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 40:52
40:52 나중에 재생 나중에 재생 리스트 좋아요 좋아요40:52
나중에 재생 나중에 재생 리스트 좋아요 좋아요ONCE 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…
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Once Upon A Gene
1 Hospital Survival Kit - Advocating for Your Child Without Losing Yourself 23:50
23:50 나중에 재생 나중에 재생 리스트 좋아요 좋아요23:50
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Once Upon A Gene
1 Real-World Self-Care for Caregivers - Tiny Wins, Small Shifts, and Taking Back Your Power 17:43
17:43 나중에 재생 나중에 재생 리스트 좋아요 좋아요17:43
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Once Upon A Gene
1 Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie 24:48
24:48 나중에 재생 나중에 재생 리스트 좋아요 좋아요24:48
나중에 재생 나중에 재생 리스트 좋아요 좋아요ONCE 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/…
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Once Upon A Gene
1 Beginners Guide to Rare Disease - Wisdom from Others Who Have Been There 24:35
24:35 나중에 재생 나중에 재생 리스트 좋아요 좋아요24:35
나중에 재생 나중에 재생 리스트 좋아요 좋아요A collection of voicemails from rare disease parents who relate to you situation.
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Once Upon A Gene
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/…
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Once Upon A Gene
1 Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections 16:48
16:48 나중에 재생 나중에 재생 리스트 좋아요 좋아요16:48
나중에 재생 나중에 재생 리스트 좋아요 좋아요ONCE 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/…
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Once Upon A Gene
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/…
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Once Upon A Gene
1 A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She 34:06
34:06 나중에 재생 나중에 재생 리스트 좋아요 좋아요34:06
나중에 재생 나중에 재생 리스트 좋아요 좋아요ONCE UPON A GENE - EPISODE 240 A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She Yiwei She is a powerhouse mom to little Leo, the Founder of the TNP02 Foundation, a remarkable and brilliant advocate, and she's nothing short of extraordinary. EPISODE HIGHLIGHTS Can you tell us about Leo's diagnostic journey and how that inspired you to start the TNP02 Foundation? Leo's head circumference wasn't what it should have been and then he had a seizure at two months old. Sequencing pointed to a mutation in a gene and we hit the ground running right away, tapping into our scientific backgrounds. At first, our world came crashing down, but we also had a very fortunate set of circumstances where we could maybe change Leo's outcome if we did the right things. We were thrown into the deep end, but we looked to others and learned a lot from the people who had already paved the way. What is the process for developing an ASO therapy and how do you make the connections to launch it? We had a friend that was in the biotech industry which proved to be a key link for us. We had other friends and parents that helped to connect us as well. Networking is really important because people can help guide you and advise on the best labs to work with. Can you tell us about Project Baby Lion? The idea behind Project Baby Lion is to take what I've learned and do it again better, in a more sustainable and systematic way. The first phase is to do diagnostics better, combining sustainability with urgency, starting with NICU whole genome sequencing. We hope to prove with data, the potential sustainability of personalized therapeutics within the ultra-rare populations. As early as possible, we want to connect patients and families with their advocacy groups, and where there isn't yet a community, we will try to put together a rapid program to develop a therapeutic plan. What are the goals for Project Baby Lion and Leo's ASO therapy in the future? The most helpful thing to come from Leo's trial will be the sharing of the data and clinical protocol so other families and foundations have a blueprint and recognize that it's possible. We want to put our data where our mouth is and share it out to catalyze a culture of sharing. For Project Baby Lion, I hope to attract investment and interest from the biomedical industry because we can solve the hard problems for our kids, and they're worth it. LINKS & RESOURCES MENTIONED TNP02 Foundation https://www.tnpo2.org/ Project Baby Lion https://www.tnpo2.org/project-baby-lion Learn More and Register for Week in RARE https://globalgenes.org/week-in-rare/ Creyon Bio https://creyonbio.com/ Charles River Laboratory https://www.criver.com/ Combined Brain https://combinedbrain.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/…
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Once Upon A Gene
1 Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster 46:55
46:55 나중에 재생 나중에 재생 리스트 좋아요 좋아요46:55
나중에 재생 나중에 재생 리스트 좋아요 좋아요ONCE UPON A GENE - EPISODE 239 Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster Joining me today is my sister, Christy Foster. We're talking about caregiver stress, stress-related pain, how and why it shows up, and how to cope. EPISODE HIGHLIGHTS How does chronic stress affect us physically? The muscle tissue is our body represents our emotional holding and our bone structure represents our thinking mind. Muscle tissue holds us up and helps us move and stay flexible. When there's stress or trauma, pain can happen and without attention, the body will become significant. When we're in pain, it's difficult to care for kids, sleep, and go to work. Things compound and things start spinning, leading to a flight or fight response. It's important to be able to recognize when that pattern shows up and what to do about it before it consumes you, so that you're affected physically less often. What techniques can help with jaw tension and pain? The jaw holds our teeth, moves up and down to chew, and somatically, the joint of the jaw represents flexibility and adaptability. When joints become rigid, there's a pattern of resistance to change and emotional inflexibility. Keeping your mouth shut when you're experiencing strong emotions, like anger, can cause jaw pain because of bearing down and swallowing, creating tension in the muscles and joint over time. Expressing to the degree that you can is healing because the emotion comes up and out. As a long-term caregiver, how do you build resiliency? Connection will help support your nervous system and will help you to better regulate. It's important to have connection with someone who isn't going to fix you, who will be there when you need to release and vent, that you can talk to about your emotions around grief, rage, sadness or shame, because it takes the edge off and it softens the hit. How do we take notice of our pain and tension and take action? We all have access to nature, whether it's a plant in your home or a backyard area. At least once a day, notice nature— the color, sound, feeling. This helps to get in the visceral sense of feeling versus surviving and being in the mind and thinking. Connect with your people to create a sense of safety and understanding. When our systems feel safe, they can relax. Get rest and, if needed, get the help you need to make time for rest. Any type of meditation or breath work that are mind-body geared are helpful, even if uncomfortable, because feeling the feeling helps to move that energy out of you. Exercise in any way possible to get you into your body, which will help you come out of your mind and the emotional looping that can happen. Self-care is essential, even in little pieces of time. Put your hand on your heart and connect to the feeling of love, compassion and gratitude. Research shows this act of mindfulness and experiencing gratitude helps the body settle into a more regulated state. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 029 - Put Your Own Oxygen Mask on First https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf-9n7e6-f4dl9-34pey-khhl4-plbpy-y5jw6-w4tay-9d7t9-4rf34-3ct68 My Intuitive Body Website https://christyfoster.co/ Christy Foster on Instagram https://www.instagram.com/christy.f13/ Sinéad Quinn https://www.instagram.com/sineadquinnofficial/ Rare Breathing Room https://www.facebook.com/p/Annie-Lambert-True-You-with-Neora-100070644768526/?_rdr 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 238 Where the Glimmers Can Surface We were at our beloved park— the one we helped renovate to be inclusive and accessible, then made a trip to a nearby grocery store nearby. Ford loves automatic doors. The grocery store has the usual automatic doors at the entrance, but also has big black swinging doors at the rear of the store, where the employees pass back and forth as they restock the store. It was a slow time of day and the doors weren't swinging back and forth. Ford was determined, running his wheelchair into them, but the doors still were not swinging. At my suggestion that we go to the front of the store to watch the automatic doors, Ford had the ultimate meltdown, biting his arm and making himself bleed. He was screaming, holding onto his wheelchair tire so I couldn't move it and I felt like every eye was watching me as I tried to get him out of the store. We returned to the playground and his little sister approached him, asking him questions, and offering a special leaf bandaid. She returns with a stick and a leaf and she put the leaf on his arm, gently rolling the stick across it. Ford immediately stopped crying and began smiling. I immediately took my phone from my bag because I never want to forget that moment. I've always worried that my kids weren't connecting, but my daughter seems aware enough to nurture Ford in the way he needs. It was a beautiful moment, it was growth, it was a glimmer in our favorite park. In the rare disease life, especially in the really annoying moments, that's where the glimmers can surface— so keep chasing glimmers my friends! 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 237 Join Us for The Global Genes Week In Rare The 2024 Global Genes Week in RARE is happening in Kansas City, MO from September 25-28th. This is a powerhouse week packed with three incredible advocacy events that you can't miss— the Rare Equity Forum, the Rare Advocacy Summit and the Rare Champions of Hope Awards ceremony. Why attend? This will be four days of community, capacity building, empowering rare disease patients, advocates and caregivers, and helps organizations become research-ready and promote equity in healthcare. It's an opportunity to connect with fellow advocates and friends, to learn from the top experts and revel in meaningful connections. You'll find friends that will feel like family and leave feeling inspired, empowered and ready to take on the world. There's something for everyone! LINKS AND RESOURCES MENTIONED Learn More and Register for Week in RARE 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/…
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Once Upon A Gene
1 Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer 30:40
30:40 나중에 재생 나중에 재생 리스트 좋아요 좋아요30:40
나중에 재생 나중에 재생 리스트 좋아요 좋아요ONCE UPON A GENE - EPISODE 236 Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer Charles River Labs is a rare disease research and drug development powerhouse and their work leads to life-changing treatments. I'm joined by Roxana Redis and David Fischer to talk about Charles River Labs’ support, rare disease research and how patient advocacy organizations can team up with them to make a big impact. EPISODE HIGHLIGHTS What does Charles River Labs do? We are a global research organization that supports biotech companies and pharmaceutical companies to get drugs in front of the FDA and other regulators so they can initiate clinical studies. What do patient advocacy groups need to have in place to contract with you? When they come to us, we will need at least the genetic testing done already, but from there we can guide them and provide supporting resources. Are patient advocacy group roles in research and drug development evolving? I've clearly seen the power of the network and families reaching out to other families. They find each other, refer each other to stakeholders that can help them along the way and genetic diagnosis is happening sooner. LINKS AND RESOURCES MENTIONED Charles River Labs https://www.criver.com/ 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/…
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Once Upon A Gene
1 Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein 37:15
37:15 나중에 재생 나중에 재생 리스트 좋아요 좋아요37:15
나중에 재생 나중에 재생 리스트 좋아요 좋아요ONCE UPON A GENE - EPISODE 235 Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges, strengths and about his journey of resilience. EPISODE HIGHLIGHTS What has your diagnostic journey been like? The first few years were difficult. In 2015, I began a transition from working at a gym, running marathons and burning the candle at both ends. I developed sensitivity to food, I was fatigued and had an ongoing migraine. I went to an urgent care facility for what I thought was just a headache, but the doctor took a lot of time trying to uncover details about my health. After a routine exam, he referred me to a specialist, who referred me to a sub-specialist. Testing revealed that I had NMOSD, but despite the diagnosis, I received the good news that I would live a healthy, happy life. How did you connect with others in the NMOSD community? I was initially connected through a clinical researcher who informed me of an upcoming patient community day. I went to the patient community day and met other patients who really inspired me. I was fortunate to connect with this community such a short time after receiving my diagnosis. Do you have any advice for someone who's newly diagnosed? It takes time to feel like you understand everything and have a handle on it. It's helpful to be involved with advocacy groups as early on as possible to learn. Give yourself the grace and permission to cry, to suck, to experience negative emotions— not because they're bad, but because they're human emotions. It's up to you to choose what you're going to do everyday, to choose what you put out in the universe, how you treat yourself and how you treat others. LINKS AND RESOURCES MENTIONED Permission to Feel: Unlocking the Power of Emotions to Help Our Kids, Ourselves, and Our Society Thrive https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847 Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490/ Rare Connections in NMOSD, Alexion Pharmaceuticals, Inc. https://www.youtube.com/watch?v=cfnE7cxfY3s 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 https://effieparks.com/podcast/episode-234-finding-glimmers-for-a-happier-healthier-life-with-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.facebook.com/groups/1877643259173346/…
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Once Upon A Gene와 비슷한 콘텐츠
Jim Bacarro and Saab Magalona started one of the first local podcasts back in 2018. From debates about trashy reality shows to talking about the importance of voter registration, they have cultivated quite an engaged community who have dubbed them their /podparents/. Jim and Saab may be the ones doing the talking but they definitely make their listeners feel heard.
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Have you ever found a note on the ground, maybe meant for someone else? Help Davy Rothbart solve these mysteries on the FOUND Podcast, where we explore personal stories of love, loss, hope, transformation and aspiration through the lens of lost and found notes --with the power of humor and music. Produced by Found The Musical / Killer Films Media / Wondery. Binge all episodes of Found exclusively and ad-free by joining Wondery+ in the Wondery App, Apple Podcasts or Spotify. Start your free t ...
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Imperfect Paradise is an award-winning weekly narrative podcast showcasing California stories with universal significance, hosted by Antonia Cereijido. Each deeply reported story is driven by characters who illuminate aspects of American identity and underscore California's reputation as a home for dreamers and schemers, its heartbreaking inequality, its varied and diverse communities, its unique combination of dense cities and wild places. New episodes premiere Wednesdays, with broadcasts o ...
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As She Rises brings together local poets and activists from throughout North America to depict the effects of climate change on their home and their people. Each episode carries the listener to a new place through a collection of voices, local recordings and soundscapes. Stories span from the Louisiana Bayou, to the tundras of Alaska to the drying bed of the Colorado River. Centering the voices of native women and women of color, As She Rises personalizes the elusive magnitude of climate cha ...
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Every house is haunted. In each episode of Family Ghosts, we investigate the true story behind a mysterious figure whose legend has followed a family for generations. Grandmothers who were secretly jewel smugglers, uncles who led double lives, siblings who vanished without a trace, and other ghostly characters who cast shadows over our lives in ways that might not be immediately obvious. We are all formed in part by our familial collections of secrets, intrigues, and myths. By engaging with ...
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Explore Something New. Interviews on Science, Sex, Society and Sports. From CERN Particle Physicists and Professional Casino Cheats to Erotic Hypnotists and Olympic Athletes, every week we sit down with a guest from a different walk of life. The story is never the same but the goal always is, to learn something new. Named Best Interview Podcast in 2023, nominated in 2021 and 2022.
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Stephen Fry's 7 Deady Sins - I will take each one of the Seven Sins in turn, lay them out on the surgical table and poke, prod, pry and provoke in an attempt to try to anatomise and understand them; I hope and believe it will be, if nothing else, delicious fun and something of a change from the usual run of podcastery. Hosted on Acast. See acast.com/privacy for more information.
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Love is more than you think. From the creators of Criminal. New episodes twice a month. Part of the Vox Media Podcast Network.
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TRUE Ghost stories, hauntings, shadow people, demons, UFOs, cryptids and more! Everyday people share their personal stories of paranormal phenomena. This feed reflects the last 90 days of content, Jim Harold's Campfire has been in production since 2009 with over 660 episodes. Hosted by Jim Harold.
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Rabbi Shalom Rosner on The Parsha
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