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

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

ONCE UPON A GENE - EPISODE 102 Strength: How We View It, Define It and How It Changes As We Move Through Life With Rare Disease and Chronic Illness - Marni Cartelli At a time in her life that everything felt out of control, Marni Cartelli took action. She is making changes for herself and our entire community, like the upcoming October 29th #Press4Hope Challenge. EPISODE HIGHLIGHTS How did you come into the world of rare disease and chronic illness? I entered the rare disease community in 2015 w...

Sep 30, 2021•35 min•Ep. 102

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

ONCE UPON A GENE - EPISODE 101 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 Author Melanie Dimmit received her son's cerebral palsy (CP) diagnosis and she scoured the world for hope, stories, insight and companionship- desperate to know what she was up against and that everything was going to be okay. The result is her book, Special: Antidotes to the Obsessions that C...

Sep 23, 2021•47 min•Ep. 101

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

ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point 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. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich’s Ataxia Kyle ...

Sep 16, 2021•25 min•Ep. 100

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

ONCE UPON A GENE - EPISODE 099 Strength and Inspiration Found Through Rare Disease for Advocacy and a Patient First Movement with CEO of Optime Care - Donovan Quill Donovan Quill has made it his personal mission to help patients who suffer from an orphan disorder that has affected his entire family, Alpha-1 Antitrypsin Deficiency. His advocacy efforts have led to his role as the CEO and President of Optime Care, a nationally recognized pharmacy, distribution and patient management organization. ...

Sep 09, 2021•33 min•Ep. 99

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

ONCE UPON A GENE - EPISODE 098 Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan Perlstein Ethan Perlstein is Founder of Perlara and on Clubhouse every Tuesday and Thursday in the Gene Fixers Club. EPISODE HIGHLIGHTS What inspired your work as an entrepreneurial scientist at Perlara? It started at a professional crossroads when my sister received a rare disease diagnosis and it opened my ...

Sep 02, 2021•43 min•Ep. 98

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

ONCE UPON A GENE - EPISODE 097 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 Carole Bakhos' eight year old daughter Yara was diagnosed with Jordan's Syndrome five years ago. She shares how being Yara's mom has been an enabling journey of love, fear, joy and hope. Carol is the Project Manager for Jordan's Guardian Angels. EPISODE HIGHLIGHTS Can you tell us about your family? We started on ...

Aug 26, 2021•33 min•Ep. 97

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

ONCE UPON A GENE - EPISODE 096 Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie Short Billie Short is the mom of a 20 year old daughter that has an undiagnosed rare disease. She shares what it's like to be a caregiver with chronic stress. EPISODE HIGHLIGHTS Share a bit about yourself and your daughter. I've been caring for my adult daughter Emily for 20 years. She was a typical baby when she was born and I had an easy birth. At about three months old, I noticed s...

Aug 19, 2021•28 min•Ep. 96

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

ONCE UPON A GENE - EPISODE 095 A Rare Collection- Skin in the Game with Adam Johnson, Nathan Peck and Marni Cartelli There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring three people from the rare disease community, sharing a story with a common theme. Adam Johnson, Nathan Peck and Marni Cartelli share stories of having skin in the game. EPISODE HIGHLIGHTS Adam Johnson, DadVocate Adam made his way through the gates and into his fiel...

Aug 12, 2021•18 min•Ep. 95

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

ONCE UPON A GENE - EPISODE 094 With The Mike and Nasha Part II FOXG1 advocate Nasha Fitter and SYNGAP1 advocate Mike Graglia are leaders in the rare disease community and two of the top parent leaders in the advocacy game. In this episode, they're sharing their knowledge, expertise and experiences in an information-packed masterclass on how to build a rare disease patient advocacy group, get funding and forge a path to a cure. EPISODE HIGHLIGHTS Where do you start? The first thing to do is to bu...

Aug 05, 2021•49 min•Ep. 94

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

ONCE UPON A GENE - EPISODE 093 Leading the World Gene Therapy Program for CTNNB1 With Fellow Rare Mama - Špela Miroševič Špela Miroševič is a fellow CTNNB1 mama to a two year old named Urban. She's done a lot of work to start a foundation for our CTNNB1 gene and get in front of scientists and researchers to find a treatment for our kids. EPISODE HIGHLIGHTS Can you tell me about Urban? Urban just turned 2 years old. He was born a perfectly healthy boy. My labor was perfect, Urban was given a perf...

Jul 29, 2021•40 min•Ep. 93

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

ONCE UPON A GENE - EPISODE 092 Enabling Rare Disease Treatments with Sanath Kumar Ramesh - Founder & CEO of OpenTreatments Sanath Kumar Ramesh’s son is one of only nine kids worldwide with an ultra-rare genetic disease called Sedaghatian Type Spondylometaphyseal Dysplasia (SSMD). He has a podcast called Raising Rare where he and his wife talk about their journey, finding a treatment for their son and they feature stories of others in the rare disease community. Sanath is joining me on this e...

Jul 22, 2021•29 min•Ep. 92

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

ONCE UPON A GENE - EPISODE 091 Episode 091 - A Rare Collection- Re-Runs with Patrick James Lynch, Anna Laurent and Michelle Morganoff There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring three people from the rare disease community, sharing a story with a common theme. Patrick James Lynch, Michelle Morganoff and Anna Laurent share stories of re-runs. EPISODE HIGHLIGHTS Patrick James Lynch Patrick shares a story of him and his brothe...

Jul 15, 2021•18 min•Ep. 91

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

ONCE UPON A GENE - EPISODE 090 Rare Disease Dad and Psychologist Al Freedman, Ph.D Al Freedman, Ph. D is a rare dad to a son with Spinal Muscular Atrophy (SMA), a psychologist who specializes in supporting families affected by rare disease and disability, a speaker, author and such a nice guy. There's a lot of wisdom to gain from his personal experience as a rare disease dad and his professional expertise. EPISODE HIGHLIGHTS Can you tell me about yourself and your son? My son's name is Jack and ...

Jul 08, 2021•51 min•Ep. 90

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

ONCE UPON A GENE - EPISODE 089 Discovering New Treatments for Rare Genetic Diseases with Modelis CEO and Co-Founder James Doyle Exposed first hand to research of genetic diseases and the lack of information known, my guest quickly realized the need to streamline the process of translating genetic data into therapeutic discoveries. James Doyle is the Co-Founder and CEO of Modelis whose mission is to rapidly advance personalized drug discovery for rare genetic diseases. EPISODE HIGHLIGHTS What is ...

Jul 01, 2021•32 min•Ep. 89

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

ONCE UPON A GENE - EPISODE 088 Living with Persistent Uncertainty Without a Rare Disease Diagnosis - Meghan Halley I met Meghan Halley on the NORD Living Rare Living Stronger planning committee. She co-chairs the patient and family support group for the Undiagnosed Diseases Network. She's a Stanford research scholar and a mom to her undiagnosed son Philip. EPISODE HIGHLIGHTS Can you share about yourself? I'm the mom of three kids and my middle son Philip, who is six years old, is undiagnosed wit...

Jun 24, 2021•34 min•Ep. 88

A Rare Collection - Superheroes

ONCE UPON A GENE - EPISODE 087 A Rare Collection - Superheroes This is a new edition to the podcast that is built on the power of storytelling. This extra special first episode of A Rare Collection will be released once a month and will feature three people from the rare disease community sharing a short story. This month's theme is Superheroes. EPISODE HIGHLIGHTS Casey Parks, Father to Ford with CTNNB1 Casey shares a story from when he was little, going to the comic book store with his dad and ...

Jun 17, 2021•18 min

Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig

ONCE UPON A GENE - EPISODE 086 Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig Angela Lindig's daughter had a diagnosis of Atypical Rett for years, but was recently diagnosed with HNRNPH2. Angela runs Idaho Parents Unlimited, which supports, empowers, educates and advocates to enhance the quality of life for Idahoans with disabilities and their families. Amber is also working on a campaign about why diagnosis matters and is working to help families access whole exome sequencing (WES)...

Jun 10, 2021•36 min•Ep. 86

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

ONCE UPON A GENE - EPISODE 085 Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles Steward Charles Steward was one of the first scientists to work on the human genome project, led the original research analysis for human chromosome 10 and has established international collaborations on various projects. He's currently the Patient Advocacy and Engagement Lead for Congenica. He's a brilliant scientist and a super DadVocate to two children wi...

Jun 03, 2021•30 min•Ep. 85

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

ONCE UPON A GENE - EPISODE 084 Relief and Inspiration for Mothers of Children with Rare Diseases with Angel Aid Cares Founder - Cristol O’Loughlin Angel Aid Cares works to provide connection, relief and support to caregivers. The founder, Cristol O'Loughlin is sharing her story that begins with her role as a rare sibling and unfolds with heartbreak, passion, grit and grace. EPISODE HIGHLIGHTS Tell me about your childhood and how you're connected with rare disease. I am the youngest of five child...

May 27, 2021•57 min•Ep. 84

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

ONCE UPON A GENE - EPISODE 083 Advocates Come in Small Packages - My Life With Blau Syndrome With Keira Howell Keira Howell is a twelve year old living with Blau Syndrome joining me to share her story of living with a chronic disease. EPISODE HIGHLIGHTS Tell me about yourself. I'm twelve years old and I have Blau Syndrome. I love to act, sing and do anything related to musical theater. Why would you like to tell your story? I've done presentations at school, but want to expand the people who kno...

May 20, 2021•21 min•Ep. 83
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