Once Upon A Gene

RARE - A Brand With A Purpose With Theresa Thomas and Kristine Hoestermann

ONCE UPON A GENE - EPISODE 054 RARE. — A Brand with a Purpose: Theresa Thomas and Kristine Hoestermann Theresa Thomas and Kristine Hoestermann nurtured their own outlets of blogging and art and found each other online through the power of a hashtag. They fueled the spark of when they met into a glowing fire as they continue to pour their energy into RARE.— a brand with a purpose and also their podcast, Because We Are Strong. EPISODE HIGHLIGHTS How did you come to be part of the rare ...

Living With Chronic Pain - International Pain Foundation President Barby Ingle

ONCE UPON A GENE - EPISODE 053 Living with Chronic Pain - International Pain Foundation President Barby Ingle Barby Ingle is a fierce advocate, the President of the International Pain Foundation, a chronic pain educator and advocate, motivational speaker, Amazon best-selling author and reality tv personality. She's received more than 20 accolades for her work in the chronic pain community. EPISODE HIGHLIGHTS Where did your journey begin? When I was coaching, I was living all of my dreams...

Effisode - Making Friends and Talking About Differences

Music provided by Scott Holmes

Effisode 006 - Making Friends and Talking About Differences

Music provided by Scott Holmes

Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story

ONCE UPON A GENE - EPISODE 052 Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story Adam “DadVocate” Johnson is a dad, diagnosed with Mitochondrial Myopathy. He blogs about his rare disease story, grief and experience on his blog, Owning My Story.  EPISODE HIGHLIGHTS How did you come to be a part of the rare disease community? When I was thinking I was a typical, healthy 35 year old, I got the flu that turned into pneumonia and bronchitis. I wanted to get...

Truncus Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice

ONCE UPON A GENE - EPISODE 051 Truncus Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice Charlotte was born with a rare form of congenital heart disease called Truncus Arteriosus. After Charlotte was born, her mom, Sonja Voice, found support groups and found the hope she needed to advocate for Charlotte.  EPISODE HIGHLIGHTS Can you tell us about Charlotte? My daughter was born at the end of March with a rare diagnosis, Truncus Arteriosus. I traveled from my home...

Truncas Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice

ONCE UPON A GENE - EPISODE 051 Truncas Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice Charlotte was born with a rare form of congenital heart disease called truncas arteriousis. After Charlotte was born, her mom, Sonja Voice, found support groups and found the hope she needed to advocate for Charlotte.  EPISODE HIGHLIGHTS Can you tell us about Charlotte? My daughter was born at the end of March with a rare diagnosis, truncas arteriousis. I traveled from my ho...

Effisode - Merch, Napa Center, and Beach Adventures

Into music by Scott Holmes

Reflecting on 50 Episodes with Effie and Casey

ONCE UPON A GENE - EPISODE 050 Reflecting on 50 Episodes with Effie and Casey It's the 50th episode of the Once Upon a Gene podcast and Casey and Effie reflect on their journey, past guests, experiences and the stories that have touched them. EPISODE HIGHLIGHTS How do you think things are going? I am so proud of you. It has been so fun watching this start from something you talked about passionately, that you had no training in, that you had no real connections in, but that you wanted to...

Thanatophoric Skeletal Dysplasia with Ashequka Lacey

Thanatophoric Skeletal Dysplasia with Ashequka Lacey Ashequka Lacey is a fierce mama bear to Jakobi who was born with thanatophoric skeletal dysplasia which results from a mutation in the FGFR3 gene. Thanatophoric dwarfism is a severe skeletal disorder, but Jakobi has as much strength and determination in his little body as his mom.  EPISODE HIGHLIGHTS Tell me about Jakobi. > Jakobi is 18 months old and was born with a rare form of dwarfism called thanatophoric skeletal dysplasia. The gene m...

Fake It Til You Make It - Public Speaking, Road Trips and Intensive Therapy

Intro music provided by Scott Holmes

What is Chronically Surviving with Marcelle Longlade

What is Chronically Surviving with Marcelle Longlade Marcelle Longlade is living with multiple rare diseases. Her platform, Chronically Surviving connects community, offers accessible yoga and other healing practices and services.  EPISODE HIGHLIGHTS Can you tell me how you became involved with Our Odyssey? Had you been part of an advocacy or support group prior? Can you tell us about the rare diseases you're living with? What affects you the most daily? Tell me about the shift from your bio...

Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter

Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter Nasha Fitter is the mother of three daughters, one of which was diagnosed with a rare disease called FOXG1. After her daughter's diagnosis, she got to work and co-founded the FOXG1 Research Foundation. She's dedicated to leading the research strategy and finding a cure for every child in the world with FOXG1 syndrome. She's here to talk to us about her work as the Director of the Rare and Neurological D...

School Busses, Road Trips and Friendship

A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane

A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane If you haven’t listened to Episode 38, Rare Like Us with Taylor Kane, go back and listen to that episode here. Taylor Kane's mom, Diane Kane, had two toddlers when her husband was suddenly diagnosed with a rare disorder called Adrenoleukodystrophy (ALD). I'm in awe of her strength, grit and grace as a caregiver to her husband John, all while being a new mom, working and preparing for all the ways ALD would disru...

Two Disabled Dudes - Kyle Bryant and Sean Baumstark

Two Disabled Dudes - Kyle Bryant and Sean Baumstark When I became a part of the rare disease community after Ford was born, I didn't feel like I had any community at all. After Ford was born, I felt less connected to my friends and I sought out a new community through podcasts because hearing stories made me feel connected. Sean Baumstark and Kyle Bryant, the hosts of Two Disabled Dudes podcast, both have Friedreich’s ataxia (FA). They have been an impactful resource in my journey and I'm so ...

Rare Together, Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes

Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes Dan DeFabio and Bo Bigelow founded The Rare Disease Film Festival and have just created The Disorder Channel, accessible through Amazon Fire and Roku. Their work is connecting patients and families, raising awareness and inspiring a lot of conversations. Global Genes is having a virtual 10 day summit, September 15th - 25th, 2020. On September 16th, 17th and 18th, they're holding a watch p...

Effisode - Let Me Tell You About My Big Brother

A Mother's Crusade to Find a Cure for Her Son - Amber Freed, Founder and CEO, SLC6A1 Connect

A Mother’s Crusade to Find a Cure for Her Son - Amber Freed Amber Freed is the mother of twins, Maxwell and Riley. At a year old, Maxwell was diagnosed with a disease too rare to have a formal name, referred to as SLC6A1. When Amber was told nothing could be done, she decided to fight. She left her career that day and shifted her focus towards a treatment. She's a leader in the rare disease community and is the founder of SLC6A1 Connect. EPISODE HIGHLIGHTS Give us a little background on the ...

David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action

David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action David Fajgenbaum, MD, MBA, MSc, is a groundbreaking physician-scientist, disease hunter, speaker, and author of the national bestselling memoir, Chasing My Cure: A Doctor's Race to Turn Hope Into Action.  EPISODE HIGHLIGHTS Can you tell us about your diagnosis of idiopathic multicentric castleman disease (IMCD)? What were your symptoms and how quickly were you hospitalized? How did you eventually get a diagnosis? W...

Effisode 001

WSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger

WSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger Lisa Henniger is joining me to talk about Washington State University's ROAR program, which supports higher education for the disabled and neurodiverse. Lisa's son Evan, who has down syndrome, has always wanted to go to WSU and follow in the footsteps of his entire family. Evan was among the WSU ROAR program's first cohort in 2018 which has been a dream-come-true.  EPISODE HIGHLIGHTS Can you tell us about your ...

Time is Brain - SynGap Research Fund with Mike Graglia

Time is Brain: SYNGAP Research Fund with Mike Graglia Bo Bigelow and Daniel DeFabio have started a TV channel called The Disorder Channel where you can see all their rare stories in one place. You can access the channel with a Roku or Amazon Fire TV Stick. I had the honor and opportunity to narrate one of these films, The Foundations of Rare: The SYNGAP Research Fund and that’s how I connected with my next guest. Mike Graglia is a dad on a mission. His son is one of around 600 patients born w...

Bonus Episode - Usher Syndrome Type III with Eleanor Griffith from Grey Genetics

Physical and Emotional Well-Being for the Caregiver with Tyra Skibington

Physical and Emotional Well-Being for the Caregiver with Tyra Skibington Tyra Skibington lives in Kelowna, British Columbia with her family and she's the Founder of Mind Over Mat, a yoga and fitness studio. She's a superwoman in the world of emotional and physical well being and the mother to a beautiful girl named Darby. At 5 months old, Darby was diagnosed with a rare disease called Pallister Killian syndrome (PKS), a rare mental disorder that affects about 500 people in the world.   EPISOD...

Next Steps - A Journey Through CRPS to an Above the Knee Amputee with Whitney Lavender

Next Steps: A Journey Through CRPS to an Above-the-Knee Amputee with Whitney Lavender Whitney Lavender lives in Texas with her husband and two sons. I discovered her through her advocacy on Complex Regional Pain Syndrome (CRPS). She was taking a walk one day and had an accident that changed her life forever. The accident even led to the discovery of another rare disease she was unknowingly dealing with. Whitney has lived with excruciating pain for years, has been in the hospital alone during ...

Rare Like Us with Taylor Kane

ANNOUNCEMENTS Don't forget to register for the NORD 2020 Living Rare, Living Stronger Patient and Family Forum streaming July 18th-19th. I'll be on the parent panel on the 19th talking about stress reduction and caregiver well being. Register here.  Head over to podcastawards.com and nominate Once Upon a Gene for The People's Choice Award under the Society-Culture category. Disorder: The Rare Disease Film Festival was supposed to be held in May and was cancelled due to COVID. These films are...

Founder of LakiKid - Sensory Tools for Home and Classroom with Jason Hsieh

Founder of LakiKid: Sensory Tools for Home and Classroom with Jason Hsieh NORD, the National Organization for Rare Diseases invited me to be a speaker at the 2020 Living Rare, Living Stronger Patient and Family Forum on a breakout panel for caregivers. I'm going to be talking about stress reduction and emotional well being as a caregiver and I'd love for you to join virtually July 18th-19th, 2020.  Today I'm talking to Jason Hsieh, a local father whose son was diagnosed with autism and ADHD. ...

Anna Laurent on Alagille Syndrome and Her Road to Advocacy

Anna Laurent on Alagille Syndrome and Her Road to Advocacy My guest today has a rare genetic disorder called Alagille Syndrome, which she was diagnosed with at 6 months old with no prognosis. Anna Laurent is a vivacious 20 year old living her best life. She's the Head of Programs & Initiatives at Our Odyssey where she helps to empower young adults impacted by chronic and rare diseases. If you know a young person with a chronic or rare disease, tell them to check out Our Odyssey.  EPISODE HIG...

Sage Graves - Estate Planning, Guardianship, Special Needs Trusts

Sage Graves - Estate Planning, Guardianship, Special Needs Trusts Today we're talking about a really important topic- planning for our kid's future. Sage Graves is an attorney local to the Seattle area, here to share information about wills, estate planning, special needs trusts, guardianship and ABLE accounts.   EPISODE HIGHLIGHTS Share your background and why you've chosen this type of law to practice. Let's cover the basics. What do we need to do? What do we need to think about? When shoul...

The Ladies Behind the Edits

The Ladies Behind the Edits I want my audience to know Erica and Devona, such a big part of my show. They make everything sound beautiful, put it all together and I'm grateful to have stumbled across them.  EPISODE HIGHLIGHTS What is it like to hear and to edit someone's conversations in their raw form? I posted in a Facebook group about wanting an editor connected to the rare disease or disability community and Erica shared with me about Cam. Can you share a little bit about him? Have you t...

Loving Large: A Mother's Rare Disease Memoir With Patti Hall

ONCE UPON A GENE - EPISODE 033 Loving Large: A Mother's Rare Disease Memoir With Patti Hall This episode is about the larger-than-life love that a mother has for her son. Patti Hall is the author of the book, Loving Large: A Mother's Rare Disease Memoir. In reading her book, I learned a lot about the rare disease called gigantism. I’m so grateful when people share their stories about the rare disease life because it’s so important in so many ways and you never know who will be touched by it. ...

In Loving Memory of Lucas DeFabio

As many of you know, I’ve been blessed to get to know Daniel DeFabio over the past few months. Earlier this year, he spoke on the podcast about his amazing little boy, Lucas. It is with the heaviest of hearts that I share the news of the passing of sweet Lucas. I and so many others are deeply sorry and heartbroken for the loss of this amazing little boy.  Lucas was born with a rare and fatal disease called Menkes. After he was diagnosed the doctors said he would have 3-10 years to live. On Fr...

Beyond Quarantine: Acceptance, Empathy, and a Better Normal

ONCE UPON A GENE - EPISODE 032 Beyond Quarantine: Acceptance, Empathy and a Better Normal Dan DeFabio, Co-Founder of Disorder: The Rare Disease Film Festival is joining me again. He recently wrote a blog post about the connection the masses now have to the rare disease community surrounding the quarantine. A lot of families have dealt with these aspects of sheltering in and it hasn't been as unfamiliar as it's been for others. In this episode, I'm chatting with Dan about how the Covid-19 quar...

Quarantine - What We're Missing, What We're Not, and What We Hope Sticks Around

ONCE UPON A GENE - EPISODE 031 Quarantine - What We're Missing, What We're Not, and What We Hope Sticks Around Synthiea and Effie are talking about what they miss, what they don't miss and what they hope sticks around post-covid pandemic.  EPISODE HIGHLIGHTS What we miss during quarantine. What we don't miss. Effie doesn't miss how hard it used to be to get on friends' calendars when you wanted to hang out. Now you can find more time to connect through facetime. They don't miss traffic. And ...

Trust Your Instincts; An Early Intervention Can Save Your Life

ONCE UPON A GENE - EPISODE 030 Trust Your Instincts; An Early Intervention Can Save Your Life Anjela Yumel lived through a natural disaster, relocated to the US from the Philippines, was without her mother for a year, took on the responsibility of caring for her siblings, became a single mom, had a medically complex child Jaela, who was born with Hurler Syndrome. She's amazing and I'm honored to share this story with you.  EPISODE HIGHLIGHTS Tell us about yourself and your daughter. How did ...

Put Your Own Oxygen Mask On First

ONCE UPON A GENE - EPISODE 029 Put On Your Own Oxygen Mask First My sister, Christy Foster is a CranioSacral therapist, pioneering educator, speaker and mentor in the field of body-mind integration. She specializes in teaching health and wellness practitioners on how to interpret the subconscious language of the body. Her mission is to empower and create self-awareness. Christy is joining me for a sister chat on ways to take care of ourselves and pay attention to the ways our bodies tell us t...

Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival

ONCE UPON A GENE - EPISODE 028 Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival Bo Bigelow is the co-founder of Disorder: The Rare Disease Film Festival. He's joining today to talk about life in quarantine and his beautiful daughter Tess, who inspired him to produce a podcast, Stronger Everyday.  LINKS AND RESOURCES MENTIONED Disorder: The Rare Disease Film Festival https://www.rarediseasefilmfestival.com/ Episode 15: Films and Fatherhood with Daniel DeFa...

Therapy Check-In With Rose Reif

ONCE UPON A GENE - EPISODE 027 Therapy Check-in with Rose Reif My next guest, Rose Reif, is a very special therapist with over 20 years of experience helping people with disabilities and their families. Imagine talking to a therapist who knows your language and the jargon you use- it's comforting to know someone like her exists. She has so much understanding and her approach to mental health for our world is gentle and insightful.  EPISODE HIGHLIGHTS Tell me about what you do and why you do i...

How Our Rare Kids Can Shape Us

ONCE UPON A GENE - EPISODE 026 How Our Rare Kids Can Shape Us Molly D'Angelo is sharing her adorable son's story with us who has a rare genetic disorder of obesity. People can be very judgmental and cruel. Rare parents watch their kids struggle so much and we have fear about their futures on a regular basis. We grow a thick skin, but even we are not immune to the ignorance and unkindness we can receive. Stories like Josh's help spread awareness and educate us all to have more compassion and u...

A Grandfather's Story of Guardianship, Caregiving and Advocacy

ONCE UPON A GENE - EPISODE 025 A Grandfather's Story of Guardianship, Caregiving and Advocacy Parents and caregivers often hear, "I don't know how you do it". We do it because we have no choice and we do it well because we do have a choice. We do it because we're human beings who love each other. This is a touching story of hope, kindness and giving back. Jeremy Kredlo is sharing his story of becoming the legal guardian of his granddaughter, Kylee.  EPISODE HIGHLIGHTS Tell everyone who you a...

Choosing Hope

ONCE UPON A GENE - EPISODE 024 CHOOSING HOPE Jill Hawkins is a parent advocate and mom to three children, two of which share the same variant on the FAM177A1 gene. This undiagnosed disease is believed to be the cause of our kiddo's disabilities and her family is on a mission to find others and get more answers. Like many of the parents in this rare world, Jill has found whatever free sliver of time in her days or nights to search for others with the same genetic variant or someone studying it...

Mental Health and Coping During Covid-19

ONCE UPON A GENE - EPISODE 023 Mental Health and Coping During Covid-19 I hope you're all as safe and healthy as you can be right now. Dr. Laura Black is a Childhood Adolescent Psychiatry Fellow and she's providing tips to us on talking to your kids about COVID-19 and managing your heightened stress and anxiety. She also leads us through a mindfulness exercise, so be sure to take a few minutes for yourself at the end of this episode and share it with a friend or family member who can benefit....

School Closures and FAPE

ONCE UPON A GENE - EPISODE 022 School Closures and FAPE After the schools closed, I saw an uproar on social media, reading a lot of incorrect information, worry and confusion. This episode is geared to helping form realistic ideas about why distance learning isn't for all students and find acceptance of this topic. This is a huge hit to everyone, but joining me to help us all take a deep breath on the matter is Jen Cole. EPISODE HIGHLIGHTS Tell us about your position at Pave.  I'm the Directo...

A Healthier Healthcare For All

ONCE UPON A GENE - EPISODE 021 Healthier Healthcare for All Christie Olson is interviewing me and we’re firing up a conversation about the healthcare challenges along my journey with Ford in hopes that it shines a light on some of these issues that parents face regularly.   Let’s talk about how we know each other and how we met. At our mutual favorite place, Kindering,our local birth to three center, there’s a program for kids around 16 months old where you can bring them out of the home sett...

Morgan's Wonderland

ONCE UPON A GENE - EPISODE 020 Morgan’s Wonderland Morgan's Wonderland in San Antonio, Texas is one of the most magical places on Earth. It's a shrine of inclusion. They're changing the game in what accessibility and inclusion mean with a theme park designed with disabilities at its core. From young to old, with or without a disability, Morgan's Wonderland is a place to encourage everyone to gain a greater understanding of each other. Nikki and Brooke join me on this episode to talk about Mor...

Neena Nizar and the Jansen's Foundation

ONCE UPON A GENE - EPISODE 019 Neena Nizar and the Jansen's Foundation My guest today was misdiagnosed for decades and now she shares a diagnosis with her two young boys. They were all born with an extremely rare disease called Jansen's Metaphyseal Chondrodysplasia. With this disease, the body loses its ability to form bone properly and numerous surgeries are often required to correct the bones. Neena Nizar moved her family from Dubai to America to get the help they needed for this disease. S...

Distressed Genes Aren't Just A Fashion Statement

ONCE UPON A GENE - EPISODE 018 Distressed Genes Aren't Just a Fashion Statement Self care is more than a buzzword or a good intention. Synthiea and I are discussing how we create space for self care, mental and physical health and how doing small things can make a big impact.  EPISODE HIGHLIGHTS Here are some things you can do to manage stress, take care of yourselves and find some calm in the tornado that is parenthood with a child with special healthcare needs. Sign up for a meal delivery s...

The Value of Genetic Counselors

ONCE UPON A GENE - EPISODE 017 The Value of Genetic Counselors Podcasts have played a huge part in finding community and they’ve served as a way of educating myself. I loved Eleanor Griffith's mission in her podcast, Patient Stories. After being a guest on her podcast, I emailed her a few months later and asked for tips to get my own podcast off the ground. She was so gracious with all her shared wisdom. In addition to her podcast, Eleanor is a Genetic Counselor and Founder of Grey Genetics. ...

The Lucky Few

ONCE UPON A GENE - EPISODE 016 The Lucky Few I'm super excited to be talking with a super rad dad, Jordan Steele. He married his high school sweetheart and is the father to five year old twins and an almost one year old son who has down syndrome. He's genuine, fun and a lover of life. Jordan is also an emmy winning meteorologist and host on KING 5 Seattle.   EPISODE HIGHLIGHTS Tell us about your son Kinlin, who has down syndrome.  Kinlin is 11 months. We had a great pregnancy, he was healthy ...