Rare Disease — Rare Disease Podcast — Once Upon A Gene

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Posts tagged Rare Disease

ONCE UPON A GENE - EPISODE 254- Preconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer

ONCE UPON A GENE - EPISODE 254- Preconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer

Natalie emphasizes that knowledge truly is power when it comes to family planning and navigating the complexities of genetic information.

Rare Disease PodcastEffie ParksJanuary 16, 2025Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 253- Transforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples

ONCE UPON A GENE - EPISODE 253- Transforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples

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.

Rare Disease PodcastEffie ParksJanuary 9, 2025Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 252- Eight Years of Searching: A Determined Family’s Quest to Cure an Ultra-Rare CLCN6 Mutation with Kristin & Paul Purdy

ONCE UPON A GENE - EPISODE 252- Eight Years of Searching: A Determined Family’s Quest to Cure an Ultra-Rare CLCN6 Mutation with Kristin & Paul Purdy

Hear how this family’s eight-year search led them to discover their son’s ultra-rare CLCN6 gene mutation.

Rare Disease PodcastEffie ParksJanuary 2, 2025Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 251- Chasing Glimmers - From Grief to Glitter: Parenting Through Infantile MLD and Embracing Life’s Full Spectrum - with Megan Gillet

ONCE UPON A GENE - EPISODE 251- Chasing Glimmers - From Grief to Glitter: Parenting Through Infantile MLD and Embracing Life’s Full Spectrum - with Megan Gillet

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.

Rare Disease PodcastEffie ParksDecember 19, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 250 - The Gift of Grace: A Holiday Heart-to-Heart for Caregivers

ONCE UPON A GENE - EPISODE 250 - The Gift of Grace: A Holiday Heart-to-Heart for Caregivers

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.

Rare Disease PodcastEffie ParksDecember 12, 2024Rare Disease, Special Needs Podcast

Grateful Reflections for Epilepsy Awareness Month: Parents Share Love, Lessons, and Insights from the Dravet Syndrome Community

Grateful Reflections for Epilepsy Awareness Month: Parents Share Love, Lessons, and Insights from the Dravet Syndrome Community

Rare Disease PodcastEffie ParksNovember 27, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 248 - Ready for Take Off: Mission for Accessible Air Travel & Disability Advocacy, with Mindy Henderson

ONCE UPON A GENE - EPISODE 248 - Ready for Take Off: Mission for Accessible Air Travel & Disability Advocacy, with Mindy Henderson

Rare Disease PodcastEffie ParksNovember 14, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 247-Hospital Survival Kit - Advocating for Your Child Without Losing Yourself

ONCE UPON A GENE - EPISODE 247-Hospital Survival Kit - Advocating for Your Child Without Losing Yourself

Rare Disease PodcastEffie ParksOctober 17, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 246 - Real-World Self-Care for Caregivers - Tiny Wins, Small Shifts, and Taking Back Your Power

ONCE UPON A GENE - EPISODE 246 - Real-World Self-Care for Caregivers - Tiny Wins, Small Shifts, and Taking Back Your Power

Rare Disease PodcastEffie ParksOctober 10, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 244 - Beginners Guide to Rare Disease - Wisdom from Others Who Have Been There

ONCE UPON A GENE - EPISODE 244 - Beginners Guide to Rare Disease - Wisdom from Others Who Have Been There

Rare Disease PodcastEffie ParksSeptember 26, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 245 - Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie

ONCE UPON A GENE - EPISODE 245 - Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie

Rare Disease PodcastEffie ParksSeptember 19, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 243 - Chasing Glimmers - Electric Love Disability Retreats

ONCE UPON A GENE - EPISODE 243 - Chasing Glimmers - Electric Love Disability Retreats

Rare Disease PodcastEffie ParksSeptember 12, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 242 - Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections

ONCE UPON A GENE - EPISODE 242 - Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections

Rare Disease PodcastEffie ParksSeptember 5, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 241 - Chasing Glimmers - What's Glimmering with Katie Lloyd

ONCE UPON A GENE - EPISODE 241 - Chasing Glimmers - What's Glimmering with Katie Lloyd

Rare Disease PodcastEffie ParksAugust 29, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 240 - A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She

ONCE UPON A GENE - EPISODE 240 - A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She

Rare Disease PodcastEffie ParksAugust 22, 2024Rare Disease, Special Needs Podcast

ONCE 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

ONCE 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

Rare Disease PodcastEffie ParksAugust 15, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 238 - Where the Glimmers Can Surface

ONCE UPON A GENE - EPISODE 238 - Where the Glimmers Can Surface

Rare Disease PodcastEffie ParksAugust 8, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 237 - Join Us for The Global Genes Week In Rare

ONCE UPON A GENE - EPISODE 237 - Join Us for The Global Genes Week In Rare

Rare Disease PodcastEffie ParksAugust 1, 2024Rare Disease, Special Needs Podcast

ONCE UPON A GENE - EPISODE 236 - Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer

ONCE UPON A GENE - EPISODE 236 - Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer

Rare Disease PodcastEffie ParksJuly 25, 2024Rare Disease, Special Needs Podcast

ONCE 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

ONCE 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

Rare Disease PodcastEffie ParksJuly 18, 2024Rare Disease, Special Needs Podcast