Once Upon A Gene

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...

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 pr...

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 disabilit...

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 dise...

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 disea...

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 unfam...

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...

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 s...

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...

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 Fest...

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 o...

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 re...

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 beco...

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 tim...

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...

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...

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 cent...

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...

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. N...

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 tor...

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...

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 s...

ONCE UPON A GENE - EPISODE 015 Films and Fatherhood Daniel DeFabio is joining us today to share his experience and perspective as a father of a son with a rare disease called Menkes. Daniel is a contributing author to The Mighty and the Co-Founder of the Rare Disease Film Festival.  EPISODE HIGHLIGHTS Tell us about your son Lucas. The good news is that he has just turned eleven years old. He was d...

ONCE UPON A GENE - EPISODE 014 A Fellow CTNNB1 Mama Tara Bryant is a special warrior mom who has a young son with CTNNB1 and she's sharing her heartfelt story with us. I connect with her as a mom, going through the same things with CTNNB1, we're both hair stylists and I love the real stuff she shares- stuff we're all living through and not necessarily talking about all the time. LINKS AND RESOURCE...

ONCE UPON A GENE - EPISODE 013 Sibling Support On the topic of siblings again this week, we'll be talking about the sibling perspective and the support available with Emily Holl, the Director of the Sibling Support Project. Emily is a social worker, writer, trainer, and sibling. Over the past 16 years, she has provided workshops, training, and groups for siblings, families, and individuals with di...