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 GeneThe Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
ONCE UPON A GENE - EPISODE 225 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with…
Once Upon A GeneThe Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed
ONCE UPON A GENE - EPISODE 224 The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed Advocate, rare mom and Founder of…
Once Upon A GeneRare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio
ONCE UPON A GENE - EPISODE 223 Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio Ilene Miller and Christina SanInocencio are advocates…
Once Upon A GeneKrabbe Disease with Kasey Feldt
ONCE UPON A GENE - EPISODE 222 Krabbe Disease with Kasey Feldt Kasey Feldt is the mom of two- one year old Lukas and Dawson, who passed away from Krabbe…
Once Upon A GeneBeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay
ONCE UPON A GENE - EPISODE 221 BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay I'm…
Once Upon A GeneA Rare Collection - From Financial Strain to Supportive Gain - A Call For Action
ONCE UPON A GENE - EPISODE 220 A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action There's power in storytelling- for the listener…
Once Upon A GeneGenomics England Clinical Lead for Genetic Counseling - Amanda Pichini
ONCE UPON A GENE - EPISODE 219 Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini Amanda Pichini is a genetic counselor from Genomics…
Once Upon A GeneJames G Robinson - More Than We Expected Author - Five Years with a Remarkable Child
ONCE UPON A GENE - EPISODE 218 James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child James Robinson is a dad and the author of…
Once Upon A GeneMore of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade
ONCE UPON A GENE - EPISODE 184 More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With…
Once Upon A GeneUniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell
ONCE UPON A GENE - EPISODE 217 Uniting Science and Hope - COMBINEDBrain and its Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental…
Once Upon A GeneA Rare Collection - Five Advocacy Aces Share Their Conference Commandments
ONCE UPON A GENE - EPISODE 201 A Rare Collection - Five Advocacy Aces Share Their Conference Commandments EPISODE HIGHLIGHTS Melissa Hioco, STXBP1 DO: Offer a…
Once Upon A GeneSoundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay
ONCE UPON A GENE - EPISODE 216 Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay Matt…
Once Upon A GeneBeyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford
ONCE UPON A GENE - EPISODE 215 Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford Emily…
Once Upon A GeneA Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari
ONCE UPON A GENE - EPISODE 214 A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari Anne Rugari is an…
Once Upon A GenePain Points on the Disorder Channel with Daniel DeFabio and Bo Bigelow -This Festivus, Let the Airing of Grievances Begin
ONCE UPON A GENE - EPISODE 212 Special pop up episode from our friends Daniel DeFabio and Bo Bigelow from the Disorder Channel - Pain Points…
Once Upon A GeneThe Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia
ONCE UPON A GENE - EPISODE 211 The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia Rare disease parents and…
Once Upon A GeneGeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka
ONCE UPON A GENE - EPISODE 210 GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka If you're passionate about the evolving landscape of…
Once Upon A GeneA Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies
ONCE UPON A GENE - EPISODE 209 A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies I'm joined by two new, rare moms, Emily and Katie, to…
Once Upon A GeneTurkey Soup for the Soul
Background Music Credits: Title: Sensual Folk Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free…
Once Upon A GeneBreaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD
ONCE UPON A GENE - EPISODE 207 Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD For Epilepsy Awareness Month, I am joined by Tracy…
Once Upon A GenePolicy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping - Schuetz
ONCE UPON A GENE - EPISODE 205 Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping-Schuetz…
Once Upon A GenePalliative Care & the Courageous Parent Network with Founder Blyth Lord
The Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late! Blyth Lord is…
Once Upon A GeneFiguring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris
ONCE UPON A GENE - EPISODE 123 Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with…
Once Upon A GeneMastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman
ONCE UPON A GENE - EPISODE 205 Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman Jennifer Siedman is a…
Once Upon A GeneFrom Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong
ONCE UPON A GENE - EPISODE 204 From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong When doctors diagnosed her two sons…
Once Upon A GeneEffisode - The Irony of it All
Intro Music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive…
Once Upon A GeneThese Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio
ONCE UPON A GENE - EPISODE 203 These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim…
Once Upon A GeneUtilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor
ONCE UPON A GENE - EPISODE 202 Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child…
Once Upon A GeneA Rare Collection - Five Advocacy Aces Share Their Conference Commandments
ONCE UPON A GENE - EPISODE 201 A Rare Collection - Five Advocacy Aces Share Their Conference Commandments EPISODE HIGHLIGHTS Melissa Hioco, STXBP1 DO: Offer a…
Once Upon A GeneEffisode - 2023 SynGAP Cannonball for a Cure
https://www.syngapresearchfund.org/cannonball https://www.youtube.com/c/ufdtech Music credits: Title: Storybook Author: Scott Holmes…
Once Upon A GeneFundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens
ONCE UPON A GENE - EPISODE 200 Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens Lindsay…
Once Upon A GeneNavigating Parenthood as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network
ONCE UPON A GENE - EPISODE 199 Navigating as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities…
Once Upon A GeneEffisode - The Unconventional Toothfairy
Music Credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive…
Once Upon A GeneAdvocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody
ONCE UPON A GENE - EPISODE 198 Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with…
Once Upon A GeneRare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy
ONCE UPON A GENE - EPISODE 197 Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and…
Once Upon A GeneEffisode - Summer Camp for Medically Complex Kids
Intro music credited to: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music…
Once Upon A GeneA Rare Collection - Schools Out for the Summer
ONCE UPON A GENE - EPISODE 196 A Rare Collection - School’s Out for the Summer There's power in storytelling- for the listener and the storyteller. A Rare…
Once Upon A GeneAnecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry
ONCE UPON A GENE - EPISODE 195 Anecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry Joe Henry is a rad dadvocate of an adult son with…
Once Upon A GeneA Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber
ONCE UPON A GENE - EPISODE 194 A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber Sophia Zilber…
Once Upon A GeneClaudia Gonzaga Jauregui
ONCE UPON A GENE - EPISODE 193 Claudia Gonzaga Jauregui Claudia Gonzaga Jauregui is a brilliant scientist who did her undergraduate studies in genomic…
Once Upon A GeneFrom the Rare Disease Bunker to Many More Birthdays - A Tale of a Gene Therapy that Cures her Daughter with AADC Deficiency - The First Spanish Patient - with Carolina Moreno
ONCE UPON A GENE - EPISODE 192 From the Rare Disease Bunker to Many More Birthdays - A Tale of a Gene Therapy that Cures her Daughter with AADC Deficiency -…
Once Upon A GeneA Rare Collection - A Father's Day Special - Amidst the Storm
ONCE UPON A GENE - EPISODE 191 A Rare Collection - A Father's Day Special - Amidst the Storm There's power in storytelling- for the listener and the…
Once Upon A GeneSCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker
ONCE UPON A GENE - EPISODE 190 SCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most…
Once Upon A GeneDeveloping Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton
ONCE UPON A GENE - EPISODE 189 Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton Jeff Milton is the CEO of La…
Once Upon A GeneHow Being a Mom to Twins with a Rare and Undiagnosed Condition Has Shaped Rare Mom, Scientist and Co-Founder of the MAST Genes Research Foundation with Dr. Kim Aldinger
ONCE UPON A GENE - EPISODE 188 How Being a Mom to Twins with a Rare and Undiagnosed Condition Has Shaped Rare Mom, Scientist and Co-Founder of the MAST Genes…
Once Upon A GeneEffisode - Are We The Actors
Intro Music Credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music…
Once Upon A GeneA Rare Collection - Keep Digging
ONCE UPON A GENE - EPISODE 187 A Rare Collection - Keep Digging There's power in storytelling- for the listener and the storyteller. A Rare Collection is a…
Once Upon A GeneThe Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu
ONCE UPON A GENE - EPISODE 186 The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu…
Once Upon A GeneThe Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis of Limb-Girdle Muscular Dystrophy
ONCE UPON A GENE - EPISODE 185 The Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis…
Once Upon A GeneA Rare Collection - Wishing Well
ONCE UPON A GENE - EPISODE 183 A Rare Collection - Wishing Well There's power in storytelling- for the listener and the storyteller. A Rare Collection is a…
- Once Upon A Gene
Effisode - The Ultimate Rare Disease Resource Guide
Intro Music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive…
Once Upon A GeneDoctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Childs KCNT1 Epilepsy with Dadvocate Dr. Justin West
ONCE UPON A GENE - EPISODE 182 Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Child's KCNT1 Epilepsy…
Once Upon A GeneHelping Undiagnosed Patients Who Experience Symptoms of Rare Diseases Find Answers with Free Genetic Testing in a Matter of Weeks with Probably Genetic CEO Lukas Lange
ONCE UPON A GENE - EPISODE 181 Helping Undiagnosed Patients Who Experience Symptoms of Rare Diseases Find Answers with Free Genetic Testing in a Matter of…
Once Upon A GeneEffisode - There's No Crying In Baseball
Intro music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive…
Once Upon A GenePatients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael
ONCE UPON A GENE - EPISODE 180 Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient…
Once Upon A GeneTake Part Founders and PYROXD-1 Parents - Matt and Maria Granados
ONCE UPON A GENE - EPISODE 179 Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados Matt and Maria Granados are the parents of 4-year-old Natalie…
Once Upon A GeneEffisode - Wheelchairs and Walls
Intro music by Scott Holmes Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music…
Once Upon A GeneA Rare Collection - Exhausted and Energized
ONCE UPON A GENE - EPISODE 178 A Rare Collection - Exhausted and Energized There's power in storytelling- for the listener and the storyteller. A Rare…
Once Upon A GeneReal Rare Mama Shop Talk - Deciding What We Share About Our Lives and Recognizing How Far We've Come with Each Passing Year with Alyssa Poskarbiewicz CHARGE Syndrome Mom
ONCE UPON A GENE - EPISODE 177 Real Rare Mama Shop Talk - Deciding What We Share About Our Lives and Recognizing How Far We've Come with Each Passing Year with…