Once Upon A Gene - podcast cover

Once Upon A Gene

Effie Parks•effieparks.com
Society & Culture
Personal Journals
Kids & Family
Parenting
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, 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

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

ONCE UPON A GENE - EPISODE 164 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 Rachel Heilmann is a rare mom and founder of The Rory Belle Foundation, which was started in honor of her daughter who had NARS1. She's also a clinical pharmacist on a mission to make a difference for our kids and advocate for palliative care for rare families. EPISODE HIGHLIGHTS Can you tell us about yourself and your famil...

Dec 08, 2022•39 min•Ep. 164

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

ONCE UPON A GENE - EPISODE 163 How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson FOXG1 Research Foundation Co-Founder and rare mom, Nicole Johnson, shares takeaways from the November FOXG1 Syndrome Science Symposium & Parents Conference. EPISODE HIGHLIGHTS Can you tell us about your daughter Josie and about starting the FOXG1 Foundation? Josie is 11 years old and she is the cutest little girl. She's amazing in that she has FO...

Dec 01, 2022•44 min•Ep. 163

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

ONCE UPON A GENE - EPISODE 162 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 Gianluca Pirozzi is a dadvocate and Senior Vice President, Head of Development and Safety at Alexion, AstraZeneca. His daughter has Smith Magenis syndrome. EPISODE HIGHLIGHTS What is your connection to rare disease and how does it connect with your work? My childhood best friend was diagnosed with ...

Nov 24, 2022•38 min•Ep. 162

A Rare Collection - Beep, Beep, Beep

ONCE UPON A GENE - EPISODE 161 A Rare Collection - Beep Beep Beep 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 Brittany Stineman Emergency vehicles headed towards us and the sound of the vehicles coming to save my child's life played on repeat. The tears were different this time. They were tears of joy, gratitude and hope. Nash wa...

Nov 17, 2022•21 min•Ep. 161

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

ONCE UPON A GENE - EPISODE 160 A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson Stormy Johnson has a son diagnosed with hemophilia. She was told she was just a carrier for the disorder. This assumption, born from the fact that mostly men are diagnosed with hemophilia, meant she didn't have answers for symptoms that were plaguing her. Other hemophilia patients encouraged her to dig deeper, which led to an even tougher road of being seen by medical p...

Nov 10, 2022•36 min•Ep. 160

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

ONCE UPON A GENE - EPISODE 159 Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins Spencer Bishins has a Master's degree in economics and a law degree, but after working for SSA for more than 10 years, he shifted his expertise to demystifying the complicated disability system. His first book, Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It, explores the obstacles disabili...

Nov 03, 2022•52 min•Ep. 159

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

ONCE UPON A GENE - EPISODE 158 Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler Wendy Erler is passionate about the caregiver and patient voice being at the forefront of her work at Alexion Pharmaceuticals. Urvi Gupta is a second year medical student, working with the rare disease community to shape her professional path forward in the medical field. In this episode, I talk with Wendy Erler and Urvi Gupta about the Gl...

Oct 27, 2022•22 min•Ep. 158

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

ONCE UPON A GENE - EPISODE 157 Episode 157 - 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 Michaelle Jinette is a wife and the mom to four boys. Her last son was born with a rare disease and she started a foundation to find and help create a therapy for kids with KCNH1 related disorders. She is also a marriage and family therapist and we're talking with her about the mental aspe...

Oct 20, 2022•43 min•Ep. 157

A Rare Collection - Batten Down the Hatches

ONCE UPON A GENE - EPISODE 156 A Rare Collection - Batten Down the Hatches 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 My best friend- Kelly Vandewerker Prior to 2015, I lived a life unaffected by rare disease. When Effie became pregnant, I hosted her baby shower and couldn't wait for her baby to be born. I had a three year old a...

Oct 13, 2022•15 min•Ep. 156

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

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 family? My wife is a pediatric nurse and I work in communications. We have a daughter named Daisy who wil...

Oct 06, 2022•50 min•Ep. 155

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

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 hosting free monthly 101, 102 and 103 gene therapy courses to help other families advance their program...

Sep 29, 2022•30 min•Ep. 154

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

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 HIGHLIGHTS Can you tell us about yourself and your work as an inclusion expert? I got into special education ...

Sep 22, 2022•38 min•Ep. 153

A Rare Collection - Underestimated

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 movie was Rudy, the story of Daniel Ruettiger, a young man determined to play football for the Univer...

Sep 15, 2022•18 min•Ep. 152

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

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 of your favorite quotes and why? One that stands out in terms of transitioning into the rare disease...

Sep 08, 2022•40 min•Ep. 151

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

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 them. Together we speak with Nicole Henwood, a rare mother, physician and president of NF2 Biosoluti...

Sep 01, 2022•39 min

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

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 little bit about Lucy? Lucy is our adorable 14 month old daughter, born during the pandemic. Initially ...

Aug 25, 2022•43 min•Ep. 149

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

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 a degree in biochemistry and molecular biology. My older brother passed away in October from SMA Typ...

Aug 18, 2022•41 min•Ep. 148

A Rare Collection - Easier Said Than Done

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 education system so often fails the most vulnerable children. In 2015, we moved from Idaho to Boston...

Aug 11, 2022•16 min•Ep. 147

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

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 Health Clinical Solutions. EPISODE HIGHLIGHTS As a family, how do you navigate metal health? We've decid...

Aug 04, 2022•35 min•Ep. 146

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

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 development industry. EPISODE HIGHLIGHTS Can you talk about your work designing clinical trials? I sta...

Jul 28, 2022•30 min•Ep. 145
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