Once Upon A Gene
317 episodes - English - Latest episode: about 1 month ago - ★★★★★ - 258 ratingsAs 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, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.
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Episodes
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
September 29, 2022 11:00 - 30 minutesONCE UPON A GENE - EPISODE 154 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 Terry Pirovolakis is a rare disease crusader and father to Michael, who has SPG50. He made a gene therapy for his son in only 18 months. The work he has done will also transform the way rare diseases are treated. He's hosting free monthly 101, 102 and 103 gene therapy courses to help other families advance their pro...
Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi
September 22, 2022 11:00 - 37 minutesONCE UPON A GENE - EPISODE 153 Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi Bre Gastaldi is known as the Inclusive Educator and she teaches school districts how to implement inclusive practices. She's also a special education teacher. She joins me for a discussion on diversity and inclusion in all aspects of education and the school setting. EPISODE HIGHLIGHTS Can you tell us about yourself and your work as an inclusion expert? I got into special edu...
A Rare Collection - Underestimated
September 15, 2022 11:00 - 18 minutesONCE UPON A GENE - EPISODE 152 A Rare Collection - Underestimated There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Ryan Sheedy, Dad to Reynolds When I think about the word underestimate, I think about an underdog. As a kid my favorite movie was Rudy, the story of Daniel Ruettiger, a young man determined to play football for the...
Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson
September 08, 2022 11:00 - 39 minutesONCE UPON A GENE - EPISODE 151 Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson Adam "Dadvocate" Johnson and Katie Lloyd are on the podcast, joining me for a lighthearted chat about Brené Brown, a research professor who has spent the past two decades studying courage, vulnerability, shame, and empathy. EPISODE HIGHLIGHTS Adam, what are some of your favorite quotes and why? One that stands out in terms of transitioning into the rare ...
Rare Disease Families Have Plenty of Hope - What They Need is Help. Transforming Drug Development w/ NF2 Biosolutions, Nicole Henwood & Vibe Bio, Alok Tayi
September 01, 2022 11:00 - 38 minutesONCE UPON A GENE - EPISODE 150 Rare Disease Families Have Plenty of Hope - They Need Help with Drug Development with NF2 Biosolutions Found - Nicole Henwood and Vibe Bio Co-Founder Alok Tayi Alok Tayi is a seasoned scientist and co-founder of Vibe Bio. Alok started Vibe Bio because the biggest obstacle in treating patients with overlooked diseases isn’t finding potential treatments — it’s funding them. Together we speak with Nicole Henwood, a rare mother, physician and president of NF2 Bioso...
Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman
August 25, 2022 11:00 - 42 minutesONCE UPON A GENE - EPISODE 149 Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman Zachary and Geri Landman are the parents of Lucy, who was born with PGAP3 during the pandemic. They're brilliant and driven, seeking treatments through their nonprofit, Moonshot for Unicorns. EPISODE HIGHLIGHTS Can you share a little bit about Lucy? Lucy is our adorable 14 month old daughter, born during the pandemic. Ini...
Rare Disease Siblings, The Glass House Children - Bulletproof and Shattered - With SMA Sibling Cara Freedman
August 18, 2022 11:00 - 41 minutesONCE UPON A GENE - EPISODE 148 Rare Disease Siblings, The Glass House Children - Bulletproof and Shattered - With SMA Sibling Cara Freedman August is Spinal Muscular Atrophy (SMA) Awareness Month and sibling Cara Freedman joins me to discuss her experience growing up with her older brother Jack. EPISODE HIGHLIGHTS Can you tell us about your family? I'm 22 years old and just graduated college with a degree in biochemistry and molecular biology. My older brother passed away in October from S...
A Rare Collection - Easier Said Than Done
August 11, 2022 11:00 - 16 minutesONCE UPON A GENE - EPISODE 147 A Rare Collection - Easier Said Than Done There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Katie Stevens, Executive Director of Team Telomere It's back to school season which has me thinking about how the education system so often fails the most vulnerable children. In 2015, we moved from Idaho to...
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
August 04, 2022 11:00 - 34 minutesONCE UPON A GENE - EPISODE 146 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 Ray Huml and his wife have two kids with Facioscapulohumeral Muscular Dystrophy (FSHD). He's an author, Vice President of Medical and Scientific Strategy and Head of the Rare Disease Consortium at Syneos Health Clinical Solutions. EPISODE HIGHLIGHTS As a family, how do you navigate metal health? We've...
Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad
July 28, 2022 11:00 - 29 minutesONCE UPON A GENE - EPISODE 145 Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad Shazia Ahmad is the Senior Director and Head of Patient and Physician Services at UBC. She earned a BS in physiology and neurobiology from the University of Maryland and has over 20 years of experience in the therapeutic development industry. EPISODE HIGHLIGHTS Can you talk about your work designing clinical trials...
Effisode - CTNNB1 Awareness Day - Rare Disease Family Meet-Up
July 26, 2022 11:00 - 3 minutesIntro music by Scott Holmes
Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman
July 21, 2022 11:00 - 49 minutesONCE UPON A GENE - EPISODE 144 Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman Gay Grossman is the co-founder of ADCY5.org and she's a mom to her 25 year old daughter Lilly who lives with a rare disease. She's been an advocate for everyone in the rare disease community for over 20 years. She shares her knowledge with us about IEP's and how to be the fiercest, most equipped advocates we can be. EPISODE HIGHLIGHTS What is...
A Rare Collection - I Will Never Forget
July 14, 2022 11:00 - 16 minutesONCE UPON A GENE - EPISODE 148 A Rare Collection - I Will Never Forget There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Elli Brimble As a researcher and genetic counselor, I work behind the scenes to help families craft their own stories. I met Nasha Fitter in 2016 when her daughter developed infantile spasms during a family va...
Effisode - Back on Track - All Aboard the Inclusion Train
July 12, 2022 11:00 - 5 minutesIntro music by Scott Holmes
Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza
July 07, 2022 11:00 - 35 minutesONCE UPON A GENE - EPISODE 142 Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza Yosr Hamza is a lawyer, caregiver, and mom and she joins us to talk about what it's like to be a parent to a child with a rare disease in the Middle East, where rare disease isn't as accepted or normalized. EPISODE HIGHLIGHTS How have you navigated having a child with a rare disease and discovered your powerful voice to embrace your child? For an entir...
A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa
June 30, 2022 11:00 - 27 minutesONCE UPON A GENE - EPISODE 141 A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa Laura Dellicker is a hardworking mom who adopted a little boy named Salim four years ago. Salim has a rare disease called Epidermolysis Bullosa (EB). Laura shares her story of rare disease adoption and what inspired her decision. EPISODE HIGHLIGHTS Can you tell us about Salim? My son Salim is 7 years old and he has two unrelated genetic conditions. I adopted ...
Effisode - Global Genes RARE Disease Patient Advocacy Summit
June 28, 2022 11:00 - 5 minutesIntro music by Scott Holmes
Picking the Brain of a Rare Disease Dad - With CTNNB1 Dadvocate - Casey Parks
June 23, 2022 11:00 - 27 minutesONCE UPON A GENE - EPISODE 140 Picking the Brain of a Rare Disease Dad - with CTNNB1 Dadvocate - Casey Parks CTNNB1 Dadvocate Casey Parks, is back to talk about life and how things are going so far in 2022. EPISODE HIGHLIGHTS Can you share about your career and how you show up for that in addition to being a dad? I'm a senior deputy prosecuting attorney and I ask juries to convict criminals of the crimes they've committed. I currently work in the county domestic violence department and dea...
A Rare Collection - Remember Who You Are
June 16, 2022 11:00 - 24 minutesONCE UPON A GENE - EPISODE 139 A Rare Collection - Remember Who You Are There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Madeleine Oudin When her daughter Margo was born, Madeleine couldn't wait to take her on adventures across the world. As Margo's due date approached, Madeleine had already applied for her passport and receive...
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
June 09, 2022 11:00 - 36 minutesONCE UPON A GENE - 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 Jenifer Merriam and Niki Markou are courageous moms, serving on the Board of Directors for Chelsea's Hope Lafora Research Fund. Lafora disease is a severe, progressive, fatal form of epilepsy that manifests in teens. They share what it's like to cope with a child's suffering wi...
Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals
June 02, 2022 11:00 - 31 minutesONCE UPON A GENE - EPISODE 137 Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals Chris Peetz is the CEO of Mirum Pharmaceuticals, a pharmaceutical company focused on rare liver diseases. They work closely with patients and advocacy groups and have genuine connections which reinforces their sense of urgency to create treatments for liver-related diseases and help to make lives better. EPISODE HIGHLIGH...
Effisode - Guilt - Ain't Nobody Got Time for That
May 31, 2022 13:30 - 3 minutesIntro music by Scott Holmes
The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy
May 26, 2022 11:00 - 35 minutesONCE UPON A GENE - EPISODE 136 The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy Jessie Cline is the Founder of Climb Intensive Pediatric Therapy and Erin Garrison is a Physical Therapist. Sometimes when you need something done (or always in the world of rare disease) you have to do it yourself. Together, Jessie and Erin have joined forces to offer physical therapy and dynamic movement intervention (DMI) service...
A Rare Collection - Up At Night
May 19, 2022 11:00 - 25 minutesONCE UPON A GENE - EPISODE 135 A Rare Collection - Up at Night There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Mike Gralia, Dad to Tony and Founder of the Syngap Research Fund Mike recalls the nights insomnia kept him awake, looking at Tony as he rested, and wondering what his life would hold. In the darkness of night, his fea...
Effisode - RARE Entrepreneur Bootcamp Warriors
May 17, 2022 11:00 - 4 minutesIntro music by Scott Holmes
The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease
May 12, 2022 11:00 - 37 minutesONCE UPON A GENE - EPISODE 134 The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease Alison Breitbarth's son was the first baby in the state of Indiana to be screened for Pompe Disease and receive a positive result. She joins me to talk about the importance of newborn screening. EPISODE HIGHLIGHTS Where does your diagnosis journey begin? Ten days after my son Grant was born, I received a call about results from his newborn screening that indicated ...
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
May 05, 2022 11:00 - 40 minutesONCE UPON A GENE - EPISODE 133 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 Mary-Frances Garber is a Genetic Counselor who has a private practice where she offers support to patients and families affected by a rare disease diagnosis. We discuss emotional responses to grief, shame and guilt. EPISODE HIGHLIGHTS Where does your career in gene...
Rare Disease Caregiving Post Childhood with Rare Mom and Primary Ciliary Dyskinesia Advocate Karen McEwen
April 28, 2022 11:00 - 40 minutesONCE UPON A GENE - EPISODE 132 Rare Disease Caregiving Post Childhood with Rare Mom and Advocate Karen McEwen Karen McEwen has an 18 year old daughter with laryngeal cleft primary ciliary dyskinesia (PCD). Her and her daughter have been active advocates through speaking, writing and support groups. They're also fundraising for the PCD Foundation and working to get a PCD clinic at major hospitals in every state. EPISODE HIGHLIGHTS Tell us about your family and your daughter Elana. My daugh...
Kelley Coleman - Author of You will Feel Better - A Guidebook for Rare Disease Parents
April 21, 2022 11:00 - 34 minutesONCE UPON A GENE - EPISODE 131 Kelley Coleman - Author of You will Feel Better - A Guidebook for Rare Disease Parents Kelley Coleman is a mom and writer who is creating a series of books and other helpful resources for parents who are raising kids with disabilities. Be sure to tune in if you've been thinking about adding a service dog to your family because Kelley shares her experience of growing their family by one service dog named Heddie. EPISODE HIGHLIGHTS Can you tell us about your up...
A Rare Collection - Penny For Your Thoughts
April 14, 2022 11:00 - 18 minutesONCE UPON A GENE - EPISODE 130 A Rare Collection - Penny for your Thoughts There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Drie Barr, Physical Therapist A physical therapist is a movement therapist, an expert in body mechanics, movement pattern and providing diagnoses of the musculoskeletal system. While not an expert in langu...
Self Care for Your Healthcare with Ehlers Danlos Patient and Ms. Wheelchair Washington USA - Sarah Tompkins
April 07, 2022 11:00 - 36 minutesONCE UPON A GENE - EPISODE 129 Self Care for Your Healthcare with Ehlers Danlos Patient and Ms. Wheelchair Washington USA - Sarah Tompkins Ms. Wheelchair Washington USA 2022, Sarah Tompkins has Ehlers Danlos Syndrome (EDS), she does extensive rare disease advocacy work, and centers her messaging around her slogan- practice self care for your healthcare. EPISODE HIGHLIGHTS Tell us about your EDS journey and advocacy work. I'm an Ehlers Danlos Syndrome and chronic pain patient and rare dise...
Sisters’ Hope Foundation President and Founder Heidi Edwards on Recognizing ALSP Symptoms and the Importance of Genetic Testing
March 31, 2022 11:00 - 33 minutesONCE UPON A GENE - EPISODE 128 Sisters’ Hope Foundation President and Founder Heidi Edwards on Recognizing ALSP Symptoms and the Importance of Genetic Testing Heidi Edwards, President and Founder of Sisters’ Hope Foundation, has a family history of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). She's on a mission through the work of Sisters’ Hope Foundation to advocate and spread awareness for ALSP patients. EPISODE HIGHLIGHTS Where did your ALSP journey ...
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
March 24, 2022 11:00 - 40 minutesONCE UPON A GENE - EPISODE 127 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 Marissa Bishop's son Gregory was born with CDKL5 Deficiency Disorder (CDD), a rare neurological disease that causes a variety of symptoms including seizures and cortical visual impairment. Marissa is a board member for the International Foundation for CDKL5 Research (IFCR) and started Art For Hope|Lo...
A Rare Collection - Unexpected Findings
March 17, 2022 11:00 - 17 minutesONCE UPON A GENE - EPISODE 126 A Rare Collection - Unexpected Findings There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Katheron Intson Katheron started her PhD in basic neuroscience as a learning and memory researcher. She shares her experience of GRIN1 and how when patients became involved, her work transformed and unexpected...
A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd
March 10, 2022 12:00 - 34 minutesONCE UPON A GENE - EPISODE 125 A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd Katie Lloyd is a mama to Kasper, who has a rare genetic disorder called DeSanto-Shinawi syndrome and she's joining me to talk about postpartum depression and mental health. Be sure to check out her blog, A Very Rare Adventure. EPISODE HIGHLIGHTS Can you tell us about Kasper? Kasper is almost three years old and he has DeSanto-Shinawi syndrom...
Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere
March 03, 2022 12:00 - 38 minutesONCE UPON A GENE - EPISODE 124 Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere Jamas LaFreniere is the rad dad to Sophie, who has an ultra-rare glycogen storage disease called GSD1B. He’s also the founder of Sophie’s Hope Foundation and CureGSD1b. EPISODE HIGHLIGHTS Tell us about Sophie's diagnosis and the foundation you started. Sophie just turned 4 years old and was diagnosed with GSD1B just before she turned ...
Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophia's Hope Foundation Founder and Dadvocate Jamas LaFreniere
March 03, 2022 12:00 - 38 minutesONCE UPON A GENE - EPISODE 124 Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophia's Hope Foundation Founder and Dadvocate Jamas LaFreniere Jamas LaFreniere is the rad dad to Sophie, who has an ultra-rare glycogen storage disease called GSD1B. He’s also the founder of Sophie’s Hope Foundation and CureGSD1b. EPISODE HIGHLIGHTS Tell us about Sophie's diagnosis and the foundation you started. Sophie just turned 4 years old and was diagnosed with GSD1B just before she turned ...
Effisode - The Unicorns - Random Acts of Kindness in the Rare Community
February 22, 2022 12:00 - 5 minutesIntro music by Scott Holmes
A Rare Collection - This Is Us
February 17, 2022 12:00 - 22 minutesONCE UPON A GENE - EPISODE 122 A Rare Collection - This is Us There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Because of You Heather shares all the ways that she and her family are reminded of the bigger, more deeper meanings of life through, all thanks to her daughter Kate. Their faith has grown as they've learned to trust Go...
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
February 10, 2022 12:00 - 32 minutesONCE UPON A GENE - EPISODE 121 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 Sehreen Noor Ali is the Co-Founder of Sleuth, a website that compiles stories and information from rare disease parents. It's a smart technology designed to identify resources, solutions and cures— a growing group of parents working together. Sehreen is talking with me about trauma resultin...