Once Upon A Gene

Effisode - Bathroom Floor Moments

Intro music by Scott Holmes

What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander

ONCE UPON A GENE - EPISODE 120 What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander Kathryn Alexander joins me for a part two segment to further discuss her unique rare disease experience. Through newborn screening, her son Connor was diagnosed with Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is among the youngest to receive it. She highlights the fear, ...

One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander

ONCE UPON A GENE - EPISODE 119 One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander Kathryn Alexander is the mother of three kids and her rare disease story starts when she gave birth to twins and a newborn screening on her son came back positive for Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is the youngest to receive it.  EPISODE HIGHLIGHTS Can you tell us about your fami...

Effisode - Oh Goody - Anxiety is Visiting

Intro music by Scott Holmes

Ambiguous Medical Plans - How to Figure Out a System Even When it Seems Impossible with Parvathy Raman Krishnan

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 journey, yet she perseveres every day with courage to advocate and make a difference. To know he...

Effisode - Rare Disease Day

A Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke Rosen

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 HIGHLIGHTS Can you tell us about your daughter and the KIF1A diagnosis? Susannah was diagnosed at tw...

Create Conversation, Community, and Change with Author of Loving You Big - Leah Moore

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 am a high school English and theater teacher in New York and I live in Westchester, which is ...

Effisode - The Kindness of Strangers

Intro music by Scott Holmes

A Rare Collection - Lullabies

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 broken, the mama will make it better. But there are things that a mama (or a grandma) can't fix. E...

Effisode - The Magic of Friendship at the North Pole

Intro music by Scott Holmes

Being Mindful of the Sibling Experience with Founder of We Are Brave Together - Jessica Patay

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 Brave Together podcast. We Are Brave Together provides respite, community and mentoring for mot...

The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger

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 determined to ensure the ALD newborn screening test is used in every state. Thanks to her advoc...

Effisode - Grief and Joy are Mingling this Holiday Season

Intro music by Scott Holmes

Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives with Tyra Skibington and Tracey Beckett

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 their families, enjoying wheelchair accessible hayrides, hot chocolate, and choosing their specia...

A Rare Collection - Rare Disease Storytelling - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins

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 sibling stories.  EPISODE HIGHLIGHTS Noah Siedman I'm afraid of losing my memories with my brother...

Effisode - Find the Connection

Intro music by Scott Holmes

Finding Hope From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe

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 you tell us about your children? I have two sons— Ean who is four and Austin who is two. Last ...

The Joy Doesn't Need to be Ambiguous Even Though The Grief is with Rare Merrf Disorder Mom - Jessica Fein

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 HIGHLIGHTS Can you share a little bit about your children? We adopted three children from Guata...

Effisode - Cinderella, Cinderella

Intro music by Scott Holmes

Rare Book Club with Co-Host Patti Hall - Featuring Heather Lanier and Her Book, Raising a Rare Girl

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 the author of Raising a Rare Girl, about her daughter who has Wolf-Hirschhorn syndrome. EPISODE ...

Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona

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 you tell us about your family? I have two boys, ages 16 and 18, Gage and Sebastian. Sebastian h...

Effisode - Two Disabled Dudes

Intro music by Scott Holmes

A Rare Collection - Rare Disease Storytelling with Felix Townsin, Erica Jolene Stearns, Brianna Colquitt, and Mahrynn McLaughlin

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 and Brianna Colquitt share stories of courage. EPISODE HIGHLIGHTS Felix Townsin The day his s...

How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue, and Decision Fatigue with Counselor Rose Reif

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 more balance. EPISODE HIGHLIGHTS What can we do as caregivers when the things we're doing for...

Effisode - The Kids Do NAPA Center in Los Angeles

Intro music by Scott Holmes

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 ...

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 th...

Effisode - Road Trip to NAPA Center

Intro music by Scott Holmes

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 ...

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 organizati...

Effisode - Ford Goes to Kindergarten

Intro music by Scott Holmes

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 ope...

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 star...

Effisode - From the Sidelines

Intro music by Scott Holmes

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 no...

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 hi...

Effisode - Rare and Relatable - Rare Disease Stories on Clubhouse with Effie Parks and Bo Bigelow

Intro music by Scott Holmes

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 i...

Episode 093 -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 ...

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 ...

Effisode - Your Kids, My Kids - They're All Perfect

Intro music by Scott Holmes

Episode 092 - 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...

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...

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 ...

Effisode - Family Camp, Annoying Brothers, and the Doom of Packing

Intro music by Scott Holmes

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 Jac...

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 W...

Effisode - Heatwaves and a Happy Birthday

Intro Music by Scott Holmes

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 undiagno...