Once Upon A Gene

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 com...

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...

Intro music by Scott Holmes

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...

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...

Intro music by Scott Holmes

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 st...

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 Manage...

Intro music by Scott Holmes

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...

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 ga...

Intro music by Scott Holmes

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 fundi...

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 t...

Intro music by Scott Holmes

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...

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 sto...

Intro music by Scott Holmes

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...

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 t...

Intro Music by Scott Holmes

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 y...

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...

Intro music by Scott Holmes

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 camp...