All episodes
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
A Rare Collection - A Father's Day Special - Amidst the Storm
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
Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton
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
Effisode - Are We The Actors
A Rare Collection - Keep Digging
The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu
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
A Rare Collection - Wishing Well
Effisode - The Ultimate Rare Disease Resource Guide
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
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
Effisode - There's No Crying In Baseball
Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael
Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados
Effisode - Wheelchairs and Walls
A Rare Collection - Exhausted and Energized
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
Love, Hope and Cure SYNGAP
Every Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan Crooke
Effisode - Rare Disease Day Events
A Rare Collection - To the Moon and Back
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
Effisode - Barbara Is Real
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
Never Give Up - Two Decades of Struggles From Diagnosing Their Children to Starting a Clinical Trial For Aspartylglucosaminuria with Rare Mom Julia Taravella
Effisode - Seizures Are Stupid
A Rare Collection - New Beginnings
Happiness Is Meant to Be Shared with Author, Storyteller, and NEMO Dadvocate Andrés Treviño
Effisode - The Friendship Circle
Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel
Care Team Prescription - The Importance of Clinical Pharmacists with Chase Palmer
Effisode - Rare Disease Day 2023
A Focus On Patient Advocacy - Participation In Research and the Importance of an Engaged Patient Advocacy Group with Wendy Kay Chung, MD
A Rare Collection - Holiday Cheer
Effisode - Presents, Portraits and Beyond the Diagnosis
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
How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson
Effisode - Fire and Ice
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
A Rare Collection - Beep, Beep, Beep
Effisode - The List
A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson
Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins
Effisode - Chasing Greenlights
Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler
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
Effisode - Gravity
A Rare Collection - Batten Down the Hatches
CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy
Effisode - Gilmore Girls, Pumpkin Spice, and Baja
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
Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi
Effisode - Shake It Off
A Rare Collection - Underestimated
Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson
Effisode - Inclusion Revolution
Rare Disease Families Have Plenty of Hope - What They Need is Help. Transforming Drug Development w/ NF2 Biosolutions, Nicole Henwood & Vibe Bio, Alok Tayi
Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman
Effisode - Montana or Bust
Rare Disease Siblings, The Glass House Children - Bulletproof and Shattered - With SMA Sibling Cara Freedman
A Rare Collection - Easier Said Than Done
Effisode - The Lunchboxes
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
Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad
Effisode - CTNNB1 Awareness Day - Rare Disease Family Meet-Up
Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman
A Rare Collection - I Will Never Forget
Effisode - Back on Track - All Aboard the Inclusion Train
Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza
A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa
Effisode - Global Genes RARE Disease Patient Advocacy Summit
Picking the Brain of a Rare Disease Dad - With CTNNB1 Dadvocate - Casey Parks
A Rare Collection - Remember Who You Are
Effisode - Find Your Fairy Godmother
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
Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals
Effisode - Guilt - Ain't Nobody Got Time for That
The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy
A Rare Collection - Up At Night
Effisode - RARE Entrepreneur Bootcamp Warriors
The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease
Effisode - I Don't Like That
Rare Disease Caregiving Post Childhood with Rare Mom and Primary Ciliary Dyskinesia Advocate Karen McEwen
Kelley Coleman - Author of You will Feel Better - A Guidebook for Rare Disease Parents
Effisode - Gimme a Break, Spring Break
A Rare Collection - Penny For Your Thoughts
Self Care for Your Healthcare with Ehlers Danlos Patient and Ms. Wheelchair Washington USA - Sarah Tompkins
Effisode - A Perfect Day for a Walk
Sisters’ Hope Foundation President and Founder Heidi Edwards on Recognizing ALSP Symptoms and the Importance of Genetic Testing
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
Effisode - Grocery Store Answers
A Rare Collection - Unexpected Findings
A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd
Effisode - Moments
Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere
Effisode - The Unicorns - Random Acts of Kindness in the Rare Community
A Rare Collection - This Is Us
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