Once Upon A Gene

Effisode - The Magic of Christmas

Music provided by Scott Holmes

Cookies4Cures with Dana Perella

Dana Perella has raised almost $200,000 to help fund research for rare pediatric diseases through Cookies4Cures. EPISODE HIGHLIGHTS Tell me where you're from and how old you are. I live in Boulder, Colorado and I'm 10 years old. What is Cookies4Cures and why did you start it? Cookies4Cures is my nonprofit that raises money to fund research in rare pediatric disease. It started with my friend Mila that I met in speech therapy. When I was 7, I found out she was diagnosed with a rare, fatal disease...

The Glass Child - Being a Sibling to My Rare Disease Sisters with Madison McLaughlin

As a young girl, Madison McLaughlin made her way to LA to pursue acting and she's held roles in Chicago PD, Supernatural and Arrow. But she's also a rare disease super hero and celebrity in our community- the rare disease community. Madison's three younger sisters have been diagnosed with hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL). EPISODE HIGHLIGHTS Can you share a bit about your sisters? I'm the oldest of four girls. Marissa is 18, Mallory is 16 and Ma...

Effisode - Family Dinner

Music provided by Scott Holmes

Pediatric Occupational Therapy with OT4Lyfe - Sarah Putt

Sarah Putt is the host of the OT4Lyfe Podcast, where she interviews thought leaders in the occupational therapy community. Sarah is discussing early intervention and answering questions about her profession and how it benefits families like ours. EPISODE HIGHLIGHTS Tell me about why you started your podcast, OT4Lyfe. Occupational therapy is my life and OT is the "why" of life or "lyfe". My show is all about occupational therapy and I bring on occupational therapy practitioners, students and othe...

Effisode - Caregiver Personal Trainer Wanted

Intro music by Scott Holmes

Turkey Soup for the Soul

The Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late! Based on the Chicken Soup for the Soul books, filled with feel-good stories that lift your spirit, Tyra Skibington and I present this special feature just in time for Thanksgiving-- Turkey Soup for the Soul. Grab the tissues and enjoy these heartwarming, uplifting stories of friendship, inclusion, community, perseverance and kindness. Respite Rescue We h...

Effisode - Out with the Ick

Intro music by Scott Holmes

Effisode - Friendship, Inclusion, and Tough Conversations

Intro music by Scott Holmes

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. I got ...

Effisode - Making Friends and Talking About Differences

Music provided by Scott Holmes

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 do and ...

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 mut...

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 biomedic...

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 Dise...

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 disrupt h...

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 exc...

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 part...

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 begi...

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? What i...

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 backg...

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 with...

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. EPISODE HIG...

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 Cov...