Once Upon A Gene cover art

All Episodes

Once Upon A Gene — 360 episodes

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Title
1

ONCE UPON A GENE –EPISODE 278: His Son Was Diagnosed with Congenital Adrenal Hyperplasia (CAH) — A Dad’s Honest Story of Overwhelm, Faith, and Finding Hope Through Treatment w/ Matt Abernethy

2

ONCE UPON A GENE – EPISODE 277: A Mother’s Son Was Diagnosed with the Rare, Debilitating Disease LMNA-Related Congenital Muscular Dystrophy (L-CMD) — A Mother’s Story of DNR Orders and How Those Decisions Change Over Time with Hannah Lowe

3

ONCE UPON A GENE – EPISODE 276: His Two Sons Were Diagnosed with Coats Plus Syndrome — One Father’s Story of Rare Disease Advocacy and Brotherhood with Bryan Docobo

4

ONCE UPON A GENE – EPISODE 275: How AI is Making Personalized Therapies Faster, Cheaper, and Accessible for the World’s Rarest Diseases with Steven Ringel

5

ONCE UPON A GENE – EPISODE 274: Caregiver Archetypes of Survival (Part 4) | The Victim Archetype: From Cowardly Lion to Roaring Warrior – Reclaiming Your Inner Courage Without Losing Yourself with Christy Foster

6

ONCE UPON A GENE - EPISODE 273 Caregiver Archetypes of Survival (Part 3) The Saboteur Archetype: Reclaiming Your Inner Authority Without Losing Yourself, w/ Christy Foster

7

ONCE UPON A GENE - EPISODE 272 Caregiver Archetypes of Survival (Part 2) The Prostitute Archetype: Reclaiming Your Worth Without Losing Yourself, w/ Christy Foster

8

Caregiver Archetypes for Survival (Part 1) The Child Archetype : Soothe Your Inner Child Without Letting It Drive the Bus, w/ Christy Foster

9

From Hopeless Grief to Heavenly Hope: Brittni Lamb on Surrender, Faith, and Raising a Son with Hereditary Spastic Paraplegia SPG3A

10

Smarter Speech: How Q-Voice Is Changing AAC for Families and Therapists with Lana Marcucio

11

Why Genetic Testing Matters: The Case for Genetic Testing and the Start Genetic Movement - with Geraldine Bliss

12

Mini Brains in a Dish: Organoids and the Future of Personalized Rare Disease Medicine

13

Healing in the Mess: Storytelling, Friendship & Finding Love - Author of The Unlikely Village of Eden, Emma Nadler

14

15 Years of Simons Searchlight: Dr. Wendy Chung on How Families Shape Rare Disease Research and Spark Aha Moments - with Wendy Chung

15

A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

16

Finding Joy in the Journey: A Guide for Parents of Medically Complex Kids with Amber Pierson & Chelsea Kuhn

17

From Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency

18

GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman

19

Empowered Kids - Painless Labs :O'Ryan Health’s At‑Home Blood‑Draw Revolution with Tim Coleman

20

Navigating the Complexities of Grief: How One Mother’s Grief Birthed a Supportive Community with, Heather Straughter.

21

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

22

How a Service Dog Helped a Child with CACNA1C-Related Disorder (Timothy Syndrome) Gain Independence – with Sue Bresnahan

23

Unlocking Rare Disease Diagnoses with PacBio’s Long-Read Sequencing – A Conversation with CEO Christian Henry

24

Prioritizing Caregiver Health: Gut Health, Stress, and Sustainable Wellness for Parents of Kids with Disabilities – with Integrative Health Practitioner & CTNNB1 Mom, Fraser Bridgeman

25

Breaking the Silence: Growing Up with Sickle Cell, Facing Pain, and Finding Strength Through Advocacy with James Griffin

26

Lighting the Way: A Story of Love, Friendship, and Finding New Dreams - CERT1 w/ Samantha & Wesley Rogers

27

Preconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer

28

Transforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples

29

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

30

Chasing Glimmers - From Grief to Glitter: Parenting Through Infantile MLD and Embracing Life’s Full Spectrum - with Megan Gillet

31

The Gift of Grace: A Holiday Heart-to-Heart for Caregivers

32

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

33

Ready for Take Off: Mission for Accessible Air Travel & Disability Advocacy, with Mindy Henderson

34

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

35

Hospital Survival Kit - Advocating for Your Child Without Losing Yourself

36

Real-World Self-Care for Caregivers - Tiny Wins, Small Shifts, and Taking Back Your Power

37

Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie

38

Beginners Guide to Rare Disease - Wisdom from Others Who Have Been There

39

Chasing Glimmers - Electric Love Disability Retreats

40

Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections

41

Chasing Glimmers - Whats Glimmering with Katie Lloyd

42

A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She

43

Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster

44

Where the Glimmers Can Surface

45

Join Us for The Global Genes Week In Rare

46

Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer

47

Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein

48

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

49

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

50

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

51

The Power of Genetic Diagnosis - More Than Just a Label

52

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

53

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

54

Episode 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breakthroughs, and the Every Cure Initiative with Dr. David Fajgenbaum

55

Bringing Balance Back to the Language of Disability from The Special Needs Mom Podcast with Kara Ryska

56

From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland

57

The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

58

The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed

59

Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio

60

Krabbe Disease with Kasey Feldt

61

BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay

62

A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action

63

Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini

64

James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child

65

More 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

66

Uniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell

67

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

68

Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay

69

Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford

70

A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari

71

Finding Strength In Every Step

72

Pain Points on the Disorder Channel with Daniel DeFabio and Bo Bigelow -This Festivus, Let the Airing of Grievances Begin

73

The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia

74

GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka

75

A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies

76

Turkey Soup for the Soul

77

Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD

78

Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping - Schuetz

79

Palliative Care & the Courageous Parent Network with Founder Blyth Lord

80

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 Liz Morris

81

Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman

82

From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong

83

Effisode - The Irony of it All

84

These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio

85

Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor

86

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

87

Effisode - 2023 SynGAP Cannonball for a Cure

88

Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens

89

Navigating Parenthood as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network

90

Effisode - The Unconventional Toothfairy

91

Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody

92

Rare 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

93

Effisode - Summer Camp for Medically Complex Kids

94

A Rare Collection - Schools Out for the Summer

95

Anecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry

96

A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber

97

Claudia Gonzaga Jauregui

98

From 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

99

A Rare Collection - A Father's Day Special - Amidst the Storm

100

SCN8A 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

101

Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton

102

How 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

103

Effisode - Are We The Actors

104

A Rare Collection - Keep Digging

105

The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu

106

The 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

107

A Rare Collection - Wishing Well

108

Effisode - The Ultimate Rare Disease Resource Guide

109

Doctor 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

110

Helping 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

111

Effisode - There's No Crying In Baseball

112

Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael

113

Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados

114

Effisode - Wheelchairs and Walls

115

A Rare Collection - Exhausted and Energized

116

Real 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

117

Love, Hope and Cure SYNGAP

118

Every Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan Crooke

119

Effisode - Rare Disease Day Events

120

A Rare Collection - To the Moon and Back

121

Honoring a Husbands Legacy by Finishing His Work on a Documentary About Rare Disease Acute Flaccid Myelitis and Her Own Grief Along the Way with Sarah Potter

122

Effisode - Barbara Is Real

123

From Cancer Biologist to Rare Disease Mom - Digging Into the Data to Better Understand SCN8A with Madeleine Oudin PhD - Professor of Biomedical Engineering at Tufts

124

Never Give Up - Two Decades of Struggles From Diagnosing Their Children to Starting a Clinical Trial For Aspartylglucosaminuria with Rare Mom Julia Taravella

125

Effisode - Seizures Are Stupid

126

A Rare Collection - New Beginnings

127

Happiness Is Meant to Be Shared with Author, Storyteller, and NEMO Dadvocate Andrés Treviño

128

Effisode - The Friendship Circle

129

Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel

130

Care Team Prescription - The Importance of Clinical Pharmacists with Chase Palmer

131

Effisode - Rare Disease Day 2023

132

A Focus On Patient Advocacy - Participation In Research and the Importance of an Engaged Patient Advocacy Group with Wendy Kay Chung, MD

133

A Rare Collection - Holiday Cheer

134

Effisode - Presents, Portraits and Beyond the Diagnosis

135

The Clinical Pharmacist - Why They Are A VIP For Our Care Team and How We Can Get to Know Them - With NARS1 Rare Disease Mom - Rachel Heilmann

136

How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson

137

Effisode - Fire and Ice

138

Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca Pirozzi

139

A Rare Collection - Beep, Beep, Beep

140

Effisode - The List

141

A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson

142

Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins

143

Effisode - Chasing Greenlights

144

Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler

145

The Effects of Rare Disease on Relationships and How to Cope When You and Your Partner Have Different Strategies with KCNH1 Founder and Rare Mama Michaelle Jinnette

146

Effisode - Gravity

147

A Rare Collection - Batten Down the Hatches

148

CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy

149

Effisode - Gilmore Girls, Pumpkin Spice, and Baja

150

A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis

151

Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi

152

Effisode - Shake It Off

153

A Rare Collection - Underestimated

154

Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson

155

Effisode - Inclusion Revolution

156

Rare Disease Families Have Plenty of Hope - What They Need is Help. Transforming Drug Development w/ NF2 Biosolutions, Nicole Henwood & Vibe Bio, Alok Tayi

157

Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman

158

Effisode - Montana or Bust

159

Rare Disease Siblings, The Glass House Children - Bulletproof and Shattered - With SMA Sibling Cara Freedman

160

A Rare Collection - Easier Said Than Done

161

Effisode - The Lunchboxes

162

When Your Career and Personal Life Collide - VP of Medical and Science Strategy and Head of Syneos Health's Rare Disease Consortium FSHD Rare Dad - Raymond Huml

163

Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad

164

Effisode - CTNNB1 Awareness Day - Rare Disease Family Meet-Up

165

Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman

166

A Rare Collection - I Will Never Forget

167

Effisode - Back on Track - All Aboard the Inclusion Train

168

Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza

169

A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa

170

Effisode - Global Genes RARE Disease Patient Advocacy Summit

171

Picking the Brain of a Rare Disease Dad - With CTNNB1 Dadvocate - Casey Parks

172

A Rare Collection - Remember Who You Are

173

Effisode - Find Your Fairy Godmother

174

Episode 138 - When Your Child is Facing the Most Severe Form of Human Epilepsy You fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer Merriam

175

Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals

176

Effisode - Guilt - Ain't Nobody Got Time for That

177

The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy

178

A Rare Collection - Up At Night

179

Effisode - RARE Entrepreneur Bootcamp Warriors

180

The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease

181

Effisode - I Don't Like That

182

Rare Disease Caregiving Post Childhood with Rare Mom and Primary Ciliary Dyskinesia Advocate Karen McEwen

183

Kelley Coleman - Author of You will Feel Better - A Guidebook for Rare Disease Parents

184

Effisode - Gimme a Break, Spring Break

185

A Rare Collection - Penny For Your Thoughts

186

Self Care for Your Healthcare with Ehlers Danlos Patient and Ms. Wheelchair Washington USA - Sarah Tompkins

187

Effisode - A Perfect Day for a Walk

188

Sisters’ Hope Foundation President and Founder Heidi Edwards on Recognizing ALSP Symptoms and the Importance of Genetic Testing

189

Building a Different Kind of Motherhood Experience Than We Had Anticipated with CDKL5 Deficiency Disorder Mom and Founder of Art For Hope Love Cure, Marissa Bishop

190

Effisode - Grocery Store Answers

191

A Rare Collection - Unexpected Findings

192

A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd

193

Effisode - Moments

194

Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere

195

Effisode - The Unicorns - Random Acts of Kindness in the Rare Community

196

A Rare Collection - This Is Us

197

How the Caregivers Mental Health and Physical Well-Being are Impacted Right Alongside Our Rare Disease Kiddos with Advocate and Co-Founder of Hello Sleuth - Sehreen Noor Ali

198

Effisode - Bathroom Floor Moments

199

What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander

200

One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander

201

Effisode - Oh Goody - Anxiety is Visiting

202

Ambiguous Medical Plans - How to Figure Out a System Even When it Seems Impossible with Parvathy Raman Krishnan

203

A Rare Collection - New Beginnings

204

Effisode - Rare Disease Day

205

A Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke Rosen

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206

Create Conversation, Community, and Change with Author of Loving You Big - Leah Moore

207

Effisode - The Kindness of Strangers

208

The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

209

A Rare Collection - Lullabies

210

Effisode - The Magic of Friendship at the North Pole

211

Being Mindful of the Sibling Experience with Founder of We Are Brave Together - Jessica Patay

212

The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger

213

Effisode - Grief and Joy are Mingling this Holiday Season

214

Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives with Tyra Skibington and Tracey Beckett

215

A Rare Collection - Rare Disease Storytelling - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins

216

Effisode - Find the Connection

217

Finding Hope From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe

218

The Joy Doesn't Need to be Ambiguous Even Though The Grief is with Rare Merrf Disorder Mom - Jessica Fein

219

Effisode - Cinderella, Cinderella

220

Rare Book Club with Co-Host Patti Hall - Featuring Heather Lanier and Her Book, Raising a Rare Girl

221

Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona

222

Effisode - Two Disabled Dudes

223

A Rare Collection - Rare Disease Storytelling with Felix Townsin, Erica Jolene Stearns, Brianna Colquitt, and Mahrynn McLaughlin

224

How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue, and Decision Fatigue with Counselor Rose Reif

225

Effisode - The Kids Do NAPA Center in Los Angeles

226

Strength - How We View It, Define It and Move Through Life with Rare Disease and Chronic Illness with Marni Cartelli

227

Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special - Antidotes to the Obsessions that Come with a Child's Disability

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228

Effisode - Road Trip to NAPA Center

229

A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

230

Strength and Inspiration Found Through Rare Disease for Advocacy and a Patient First Movement with CEO of Optime Care - Donovan Quill

231

Effisode - Ford Goes to Kindergarten

232

Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan Perlstein

233

A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom - Carole Bakhos

234

Effisode - From the Sidelines

235

Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie Short

236

A Rare Collection - Rare Disease Storytelling - Skin In the Game with Adam Johnson, Nathan Peck and Marni Cartelli

237

Effisode - Rare and Relatable - Rare Disease Stories on Clubhouse with Effie Parks and Bo Bigelow

238

The 12 Commandments to guide you when you're starting a rare disease patient advocacy group - With Nasha Fitter and Mike Graglia

239

Leading the World Gene Therapy Program for CTNNB1 With Fellow Rare Mama - Špela Miroševič

240

Effisode - Your Kids, My Kids - They're All Perfect

241

Enabling Rare Disease Treatments with Sanath Kumar Ramesh - Founder & CEO of OpenTreatments

242

A Rare Collection- Re-Runs with Patrick James Lynch, Anna Laurent and Michelle Morganoff

243

Effisode - Family Camp, Annoying Brothers, and the Doom of Packing

244

Mental Health and living with chronic stress with Rare Disease Dad and Psychologist, Al Freedman, Ph.D

245

Discovering New Treatments for Rare Genetic Diseases with Modelis CEO and Co-Founder James Doyle

246

Effisode - Heatwaves and a Happy Birthday

247

Living with Persistent Uncertainty without a Rare Disease Diagnosis with Meghan Halley

248

A Rare Collection - Superheroes

249

Effisode - Making Cents of it All

250

Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig

251

Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles Steward

252

Effisode - Putting the Play in Playground with DadVocate - Casey Parks

253

Relief and Inspiration for Mothers of Children with Rare Diseases with Angel Aid Cares Founder - Cristol O'Loughlin

254

Advocates Come in Small Packages - My Life with Blau Syndrome with Keira Howell

255

Effisode - Unexpected Moments in the Stairwell

256

Rare Disease - The Ultimate Special Teams with Uplifting Athletes with Rob Long

257

Rare Disease Adoption with Josh and Monica Poynter

258

Effisode - Empathy Puts Some Pep in Your Step

259

Rare Disease and Grief - Its Ok That You're Not Ok with Megan Devine

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260

Creating Space for Mental Health for Men Living with Rare Diseases with David Ross

261

Effisode - Adventures in the Grocery Store

262

Media with a Mission with Believe Limited CEO Patrick James Lynch

263

Top Tips on Advocating For Your Child with Momvocate Kara Karlson

264

Effisode - Nacho, Nacho Man

265

AllStripes - Jump Start New Research for Your Rare Disease with Caitlin Nichols

266

Rare Mom Madeline Cheney - The Rare Life Podcast

267

Effisode - An Advocate's Elevator Pitch

268

Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation

269

David Solomon - CEO of Pharnext - A Biopharmaceutical Company

270

Effisode - The Friendship Circle - Lilly and Ford

271

The Importance of Early Intervention with Kindering CEO Lisa Greenwald

272

Accelerating Clinical Research - Harsha Rajasimha, Founder and CEO of Jeeva Informatics

273

Effisode - Show Your Stripes With Us This Rare Disease Day

274

Cure VCP With Rare Disease Trailblazer - Nathan Peck

275

Ben's Friends A Rare Disease Social and Support Platform with Ben Munoz

276

Effisode - A Child's Imagination

277

Connecting the Dots From Patients to Researchers with Jason Colquitt - CEO of Across Healthcare

278

Hippotherapy and Adaptive Riding with Little Bit Therapeutic Riding Center

279

Effisode - Growth and Smash Cakes

280

Rare Mama - Nikki McIntosh - Navigating Life with Rare

281

Beginners Guide to Rare Disease - Anecdotes For Those Early Days of Diagnosis with Daniel DeFabio

282

Effisode - Never Underestimate the Determination of Your Child

283

Seth Rotberg Founder of Our Odyssey and His Mental Health Surrounding a Huntington’s Disease Diagnosis

284

The Life of an Angel Diagnosed with Blau Syndrome with Cheryl-Lynn Townsin

285

Effisode - The Magic of Christmas

286

Cookies4Cures with Dana Perella

287

The Glass Child - Being a Sibling to My Rare Disease Sisters with Madison McLaughlin

288

Effisode - Family Dinner

289

Pediatric Occupational Therapy with OT4Lyfe - Sarah Putt

290

Effisode - Caregiver Personal Trainer Wanted

291

Turkey Soup for the Soul

292

SLC13A5 - TESS Research Foundation with Kim Nye

293

Effisode - Out with the Ick

294

Rare Leader - Patricia Weltin, CEO, Beyond the Diagnosis

295

One Woman’s Kindness Sparks a Neighborhood To Do the Same

296

Effisode - Friendship, Inclusion, and Tough Conversations

297

RARE - A Brand With A Purpose With Theresa Thomas and Kristine Hoestermann

298

Living With Chronic Pain - International Pain Foundation President Barby Ingle

299

Effisode - Making Friends and Talking About Differences

300

Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story

301

Truncus Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice

302

Effisode - Merch, Napa Center, and Beach Adventures

303

Reflecting on 50 Episodes with Effie and Casey

304

Thanatophoric Skeletal Dysplasia with Ashequka Lacey

305

Fake It Til You Make It - Public Speaking, Road Trips and Intensive Therapy

306

What is Chronically Surviving with Marcelle Longlade

307

Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter

308

School Busses, Road Trips and Friendship

309

A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane

310

Two Disabled Dudes - Kyle Bryant and Sean Baumstark

311

Rare Together, Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes

312

Effisode - Let Me Tell You About My Big Brother

313

A Mother's Crusade to Find a Cure for Her Son - Amber Freed, Founder and CEO, SLC6A1 Connect

314

David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action

315

Effisode 001

316

WSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger

317

Time is Brain - SynGap Research Fund with Mike Graglia

318

Bonus Episode - Usher Syndrome Type III with Eleanor Griffith from Grey Genetics

319

Physical and Emotional Well-Being for the Caregiver with Tyra Skibington

320

Next Steps - A Journey Through CRPS to an Above the Knee Amputee with Whitney Lavender

321

Rare Like Us with Taylor Kane

322

Founder of LakiKid - Sensory Tools for Home and Classroom with Jason Hsieh

323

Anna Laurent on Alagille Syndrome and Her Road to Advocacy

324

Sage Graves - Estate Planning, Guardianship, Special Needs Trusts

325

The Ladies Behind the Edits

326

Loving Large: A Mother's Rare Disease Memoir With Patti Hall

327

In Loving Memory of Lucas DeFabio

328

Beyond Quarantine: Acceptance, Empathy, and a Better Normal

329

Quarantine - What We're Missing, What We're Not, and What We Hope Sticks Around

330

Trust Your Instincts; An Early Intervention Can Save Your Life

331

Put Your Own Oxygen Mask On First

332

Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival

333

Therapy Check-In With Rose Reif

334

How Our Rare Kids Can Shape Us

335

A Grandfather's Story of Guardianship, Caregiving and Advocacy

336

Choosing Hope

337

Mental Health and Coping During Covid-19

338

School Closures and FAPE

339

A Healthier Healthcare For All

340

Morgan's Wonderland

341

Neena Nizar and the Jansen's Foundation

342

Distressed Genes Aren't Just A Fashion Statement

343

The Value of Genetic Counselors

344

The Lucky Few

345

Films and Fatherhood

346

A Fellow CTNNB1 Mama

347

Sibling Support

348

My Favorite Pair of Genes

349

Rollin' With Spina Bifida

350

My Pfeiffer Pfamily

351

The Fathers Network

352

Heartism

353

A Little Love

354

The Dadurday Chronicles

355

It's Your Party, and I'll Cry If I Want To

356

Telomere More About It

357

Hospital Hair Don't Care

358

Effie

359

Effie and Synthiea

360

Trailer