Shows / Once Upon A Gene
Once Upon A Gene
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…
Episodes
Once Upon A GeneRARE - A Brand With A Purpose With Theresa Thomas and Kristine Hoestermann
ONCE UPON A GENE - EPISODE 054 RARE. — A Brand with a Purpose: Theresa Thomas and Kristine Hoestermann Theresa Thomas and Kristine Hoestermann nurtured their…
Once Upon A GeneLiving With Chronic Pain - International Pain Foundation President Barby Ingle
ONCE UPON A GENE - EPISODE 053 Living with Chronic Pain - International Pain Foundation President Barby Ingle Barby Ingle is a fierce advocate, the President…
Once Upon A GeneEffisode - Making Friends and Talking About Differences
Music provided by Scott Holmes
Once Upon A GeneAdam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story
ONCE UPON A GENE - EPISODE 052 Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story Adam “DadVocate” Johnson is a dad, diagnosed…
Once Upon A GeneTruncus Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice
ONCE UPON A GENE - EPISODE 051 Truncus Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice Charlotte was born with a rare form of congenital…
Once Upon A GeneReflecting on 50 Episodes with Effie and Casey
ONCE UPON A GENE - EPISODE 050 Reflecting on 50 Episodes with Effie and Casey It's the 50th episode of the Once Upon a Gene podcast and Casey and Effie reflect…
Once Upon A GeneThanatophoric Skeletal Dysplasia with Ashequka Lacey
Thanatophoric Skeletal Dysplasia with Ashequka Lacey Ashequka Lacey is a fierce mama bear to Jakobi who was born with thanatophoric skeletal dysplasia which…
Once Upon A GeneFake It Til You Make It - Public Speaking, Road Trips and Intensive Therapy
Intro music provided by Scott Holmes
Once Upon A GeneWhat is Chronically Surviving with Marcelle Longlade
What is Chronically Surviving with Marcelle Longlade Marcelle Longlade is living with multiple rare diseases. Her platform, Chronically Surviving connects…
Once Upon A GeneCiitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter
Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter Nasha Fitter is the mother of three daughters, one of which was…
Once Upon A GeneA Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane
A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane If you haven’t listened to Episode 38, Rare Like Us with Taylor Kane, go back…
Once Upon A GeneTwo Disabled Dudes - Kyle Bryant and Sean Baumstark
Two Disabled Dudes - Kyle Bryant and Sean Baumstark When I became a part of the rare disease community after Ford was born, I didn't feel like I had any…
Once Upon A GeneRare Together, Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes
Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes Dan DeFabio and Bo Bigelow founded The Rare Disease…
Once Upon A GeneA Mother's Crusade to Find a Cure for Her Son - Amber Freed, Founder and CEO, SLC6A1 Connect
A Mother’s Crusade to Find a Cure for Her Son - Amber Freed Amber Freed is the mother of twins, Maxwell and Riley. At a year old, Maxwell was diagnosed with a…
Once Upon A GeneDavid Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action
David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action David Fajgenbaum, MD, MBA, MSc, is a groundbreaking physician-scientist, disease…
Once Upon A GeneWSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger
WSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger Lisa Henniger is joining me to talk about Washington State University's ROAR…
Once Upon A GeneTime is Brain - SynGap Research Fund with Mike Graglia
Time is Brain: SYNGAP Research Fund with Mike Graglia Bo Bigelow and Daniel DeFabio have started a TV channel called The Disorder Channel where you can see all…
Once Upon A GenePhysical and Emotional Well-Being for the Caregiver with Tyra Skibington
Physical and Emotional Well-Being for the Caregiver with Tyra Skibington Tyra Skibington lives in Kelowna, British Columbia with her family and she's the…
Once Upon A GeneNext Steps - A Journey Through CRPS to an Above the Knee Amputee with Whitney Lavender
Next Steps: A Journey Through CRPS to an Above-the-Knee Amputee with Whitney Lavender Whitney Lavender lives in Texas with her husband and two sons. I…
Once Upon A GeneRare Like Us with Taylor Kane
ANNOUNCEMENTS Don't forget to register for the NORD 2020 Living Rare, Living Stronger Patient and Family Forum streaming July 18th-19th. I'll be on the parent…
Once Upon A GeneFounder of LakiKid - Sensory Tools for Home and Classroom with Jason Hsieh
Founder of LakiKid: Sensory Tools for Home and Classroom with Jason Hsieh NORD, the National Organization for Rare Diseases invited me to be a speaker at the…
Once Upon A GeneAnna Laurent on Alagille Syndrome and Her Road to Advocacy
Anna Laurent on Alagille Syndrome and Her Road to Advocacy My guest today has a rare genetic disorder called Alagille Syndrome, which she was diagnosed with at…
Once Upon A GeneSage Graves - Estate Planning, Guardianship, Special Needs Trusts
Sage Graves - Estate Planning, Guardianship, Special Needs Trusts Today we're talking about a really important topic- planning for our kid's future. Sage…
Once Upon A GeneThe Ladies Behind the Edits
The Ladies Behind the Edits I want my audience to know Erica and Devona, such a big part of my show. They make everything sound beautiful, put it all together…
Once Upon A GeneLoving Large: A Mother's Rare Disease Memoir With Patti Hall
ONCE UPON A GENE - EPISODE 033 Loving Large: A Mother's Rare Disease Memoir With Patti Hall This episode is about the larger-than-life love that a mother has…
Once Upon A GeneIn Loving Memory of Lucas DeFabio
As many of you know, I’ve been blessed to get to know Daniel DeFabio over the past few months. Earlier this year, he spoke on the podcast about his amazing…
Once Upon A GeneBeyond Quarantine: Acceptance, Empathy, and a Better Normal
ONCE UPON A GENE - EPISODE 032 Beyond Quarantine: Acceptance, Empathy and a Better Normal Dan DeFabio, Co-Founder of Disorder: The Rare Disease Film Festival…
Once Upon A GeneQuarantine - What We're Missing, What We're Not, and What We Hope Sticks Around
ONCE UPON A GENE - EPISODE 031 Quarantine - What We're Missing, What We're Not, and What We Hope Sticks Around Synthiea and Effie are talking about what they…
Once Upon A GeneTrust Your Instincts; An Early Intervention Can Save Your Life
ONCE UPON A GENE - EPISODE 030 Trust Your Instincts; An Early Intervention Can Save Your Life Anjela Yumel lived through a natural disaster, relocated to the…
Once Upon A GenePut Your Own Oxygen Mask On First
ONCE UPON A GENE - EPISODE 029 Put On Your Own Oxygen Mask First My sister, Christy Foster is a CranioSacral therapist, pioneering educator, speaker and mentor…
Once Upon A GeneRare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival
ONCE UPON A GENE - EPISODE 028 Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival Bo Bigelow is the co-founder of Disorder…
Once Upon A GeneTherapy Check-In With Rose Reif
ONCE UPON A GENE - EPISODE 027 Therapy Check-in with Rose Reif My next guest, Rose Reif, is a very special therapist with over 20 years of experience helping…
Once Upon A GeneHow Our Rare Kids Can Shape Us
ONCE UPON A GENE - EPISODE 026 How Our Rare Kids Can Shape Us Molly D'Angelo is sharing her adorable son's story with us who has a rare genetic disorder of…
Once Upon A GeneA Grandfather's Story of Guardianship, Caregiving and Advocacy
ONCE UPON A GENE - EPISODE 025 A Grandfather's Story of Guardianship, Caregiving and Advocacy Parents and caregivers often hear, "I don't know how you do it"…
Once Upon A GeneChoosing Hope
ONCE UPON A GENE - EPISODE 024 CHOOSING HOPE Jill Hawkins is a parent advocate and mom to three children, two of which share the same variant on the FAM177A1…
Once Upon A GeneMental Health and Coping During Covid-19
ONCE UPON A GENE - EPISODE 023 Mental Health and Coping During Covid-19 I hope you're all as safe and healthy as you can be right now. Dr. Laura Black is a…
Once Upon A GeneSchool Closures and FAPE
ONCE UPON A GENE - EPISODE 022 School Closures and FAPE After the schools closed, I saw an uproar on social media, reading a lot of incorrect information…
Once Upon A GeneA Healthier Healthcare For All
ONCE UPON A GENE - EPISODE 021 Healthier Healthcare for All Christie Olson is interviewing me and we’re firing up a conversation about the healthcare…
Once Upon A GeneMorgan's Wonderland
ONCE UPON A GENE - EPISODE 020 Morgan’s Wonderland Morgan's Wonderland in San Antonio, Texas is one of the most magical places on Earth. It's a shrine of…
Once Upon A GeneNeena Nizar and the Jansen's Foundation
ONCE UPON A GENE - EPISODE 019 Neena Nizar and the Jansen's Foundation My guest today was misdiagnosed for decades and now she shares a diagnosis with her two…
Once Upon A GeneDistressed Genes Aren't Just A Fashion Statement
ONCE UPON A GENE - EPISODE 018 Distressed Genes Aren't Just a Fashion Statement Self care is more than a buzzword or a good intention. Synthiea and I are…
Once Upon A GeneThe Value of Genetic Counselors
ONCE UPON A GENE - EPISODE 017 The Value of Genetic Counselors Podcasts have played a huge part in finding community and they’ve served as a way of educating…
Once Upon A GeneThe Lucky Few
ONCE UPON A GENE - EPISODE 016 The Lucky Few I'm super excited to be talking with a super rad dad, Jordan Steele. He married his high school sweetheart and is…
Once Upon A GeneFilms and Fatherhood
ONCE UPON A GENE - EPISODE 015 Films and Fatherhood Daniel DeFabio is joining us today to share his experience and perspective as a father of a son with a rare…
Once Upon A GeneA Fellow CTNNB1 Mama
ONCE UPON A GENE - EPISODE 014 A Fellow CTNNB1 Mama Tara Bryant is a special warrior mom who has a young son with CTNNB1 and she's sharing her heartfelt story…
Once Upon A GeneSibling Support
ONCE UPON A GENE - EPISODE 013 Sibling Support On the topic of siblings again this week, we'll be talking about the sibling perspective and the support…
Once Upon A GeneMy Favorite Pair of Genes
ONCE UPON A GENE - EPISODE 012 My Favorite Pair of Genes As my daughter Esme's first birthday is approaching, it's bringing up a lot of feelings. This is an…
Once Upon A GeneRollin' With Spina Bifida
ONCE UPON A GENE - EPISODE 011 Rollin' With Spina Bifida Joining me today is Whitney Stohr, a master advocate for her son and others in the community. There's…
Once Upon A GeneMy Pfeiffer Pfamily
ONCE UPON A GENE - EPISODE 010 My Pfeiffer Pfamily Synthiea Kaldi was the first person I knew to call when I was told something was wrong with Ford. I admire…
Once Upon A GeneThe Fathers Network
ONCE UPON A GENE - EPISODE 009 The Washington State Fathers Network Along my own journey, I've felt passionate about capturing the perspective of fathers…
Once Upon A GeneHeartism
ONCE UPON A GENE - EPISODE 008 Heartism of the Bitterroot My guest today is a pillar in her community, starting an inclusive community center called Heartism…
