Once Upon A Gene

ONCE UPON A GENE - EPISODE 155 CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy Adam Clatworthy is a passionate advocate and blogger with a focus on the importance of the caregiver voice and how much expertise we, as parents, caregivers and patients bring to the table.  EPISODE HIGHLIGHTS Can you tell us about your fami...

Intro music by Scott Holmes

ONCE 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 hos...

ONCE 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 HIGHLIGH...

Intro music by Scott Holmes

ONCE 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...

ONCE 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...

Intro music by Scott Holmes

ONCE 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...

ONCE 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 li...

Intro music by Scott Holmes

ONCE 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...

ONCE 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...

Intro music by Scott Holmes

ONCE 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 Heal...

ONCE 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 de...

Intro music by Scott Holmes

ONCE 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 I...

ONCE 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 stori...

Intro music by Scott Holmes

ONCE 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 ch...

ONCE 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 ab...

Intro music by Scott Holmes

ONCE 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...

ONCE 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 wor...