Once Upon A Gene

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 118 Ambiguous Medical Plans - How to Figure Out a System Even When it Seems Impossible with Parvathy Raman Krishnan Parvathy Krishnan joins me to discuss being an administrator for your kids and the uncertainty that stems from not having a care plan in place, like when you have an ultra-rare disease kid like she does. She has endured more than most on her rare parenting...

ONCE UPON A GENE - EPISODE 117 A Rare Collection - New Beginnings 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. In this episode, guests share their stories of new beginnings. EPISODE HIGHLIGHTS Leah Moore In the spring, Leah and her family planted flow...

ONCE UPON A GENE - EPISODE 116 A Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke Rosen Luke Rosen is a dadvocate who founded the KIF1A organization to seek a cure for his daughter Susannah who was diagnosed with KIF1A. Luke shares personal details about his recent medical difficulties and opens the raw dialogue around what happens when a caregiver dies.  EPISODE HIGHLI...

ONCE UPON A GENE - EPISODE 115 Create Conversation, Community, and Change with Author of Loving You Big - Leah Moore Leah Moore won a prestigious award for being teacher of the year in New York, she's the author of the memoir Loving You Big, and she's the parent of three kiddos, one of which was diagnosed with Cri du chat syndrome. EPISODE HIGHLIGHTS Can you share about yourself and your family? I...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 114 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief. EPISODE HIGH...

ONCE UPON A GENE - EPISODE 113 A Rare Collection- Lullabies 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. In this episode, grandparents share their lullaby stories. EPISODE HIGHLIGHTS Maria In the classic lullaby, Hush Little Baby, when an item is brok...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 112 Being Mindful of the Sibling Experience with Founder of We Are Brave Together - Jessica Patay Jessica Patay has three kids- one born with prader-willi syndrome. She joins me today to discuss the relationship and complexity of sibling's experiences and how she navigates the extra layer of parenting. She founded a nonprofit called We Are Brave Together, which hosts the...

ONCE UPON A GENE - EPISODE 111 The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger Elisa Seeger lost her son Aidan as a result of Adrenoleukodystrophy (ALD) disease. As she was sitting next to his hospital bed researching this awful disease, she learned of a newborn screening test for ALD which wasn't being utilized. Since Aidan has passed away, Elisa has been...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 110 Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives In this special Thanksgiving episode, Tyra Skibington and Tracey Beckett share stories of rare unicorns— people who go above and beyond in the rare disease community. Sam's Day A story of a Christmas tree farmer named Ted who makes it possible for kids to spend a day on the farm with th...

ONCE UPON A GENE - EPISODE 109 A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins 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. Big brothers Noah Siedman, Grayson Skibington and Nash Hawkins share their sibl...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 108 Finding Hope: From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe Hannah Lowe is the President and Co-Founder of the L-CMD Research Foundation. Her son Austin has a rare form of muscular dystrophy (L-CMD) caused by a genetic mutation and she's urgently working to find a cure for her son and other kids like him.  EPISODE HIGHLIGHTS Can...

ONCE UPON A GENE - EPISODE 107 The Joy Doesn't Need to be Ambiguous Even Though The Grief Is - Rare MERRF Syndrome Mom Jessica Fein Jessica Fein is the mom to three children. Her middle child, 15 year old Dalia, has MERRF Syndrome, a rare form of mitochondrial disease. This degenerative disease has affected her being able to talk, walk or eat like she was able to do when she was younger. EPISODE H...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 106 Rare Book Club with Co-Host Patti Hall - Featuring Heather Lanier and Her Book, Raising a Rare Girl Fellow rare moms, Patti Hall and Heather Lanier have shared their journeys in their memoirs. Patti is the author of Loving Large, a story about her experience raising her son who was diagnosed with a rare disease called acromegaly, also known as gigantism. Heather is t...

ONCE UPON A GENE - EPISODE 105 Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona  Christopher Velona is a rare dad on a mission, driving the goals of Project Sebastian. He joins me to share open, honest and vulnerable experiences from his life since his son Sebastian was diagnosed with Battens disease. EPISODE HIGHLIGHTS Can y...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 104 A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt 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. Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin...

ONCE UPON A GENE - EPISODE 103 How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue and Decision Fatigue with Counselor Rose Reif Rose Reif is a therapist with over 20 years experience specifically tailored to those with disabilities and caregivers and she's back to share her knowledge about the three types of fatigue we face and how we can find...

Intro music by Scott Holmes