Shows
Once Upon A GeneChasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie LloydONCE UPON A GENE - EPISODE 234Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie LloydThis new series, Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light...2024-07-1144 min
Once Upon A GeneAre You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome SequencingONCE UPON A GENE - EPISODE 233Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome SequencingLINKS AND RESOURCES MENTIONEDProject Findouthttps://projectfindout.org/CONNECT WITH EFFIE PARKSWebsitehttps://effieparks.com/Twitterhttps://twitter.com/OnceUponAGeneInstagramhttps://www.instagram.com/onceuponagene.podcast/?hl=enBuilt Ford Tough Facebook Grouphttps://www.facebook.com...2024-07-0408 min
Once Upon A GeneBalancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki StusickONCE UPON A GENE - EPISODE 230Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki StusickNikki Stusick is the mom of a child with an initial VUS diagnosis and then a different pathogenic diagnosis. We talk about the complexities of balancing advocacy work, family life, when to choose one over the other and when to take a break.EPISODE HIGHLIGHTSCan you tell us about yourself and your diagnostic journey?I am a...2024-05-2336 min
Once Upon A GeneEpisode 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breakthroughs, and the Every Cure Initiative with Dr. David FajgenbaumONCE UPON A GENE - EPISODE 228Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David FajgenbaumDr. David Fajgenbaum is is a groundbreaking physician-scientist, disease hunter, speaker, and national bestselling author of Chasing My Cure: A Doctor's Race to Turn Hope Into Action. He joins me to discuss the critical role of unity among our rare disease patient advocacy organizations and why it's important to stick together. We'll also talk about the transformative potential of everycare initiative.2024-05-0951 min
Once Upon A GeneThe Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber FreedONCE UPON A GENE - EPISODE 224The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber FreedAdvocate, rare mom and Founder of SLC6A1 Connect, Amber Freed joins me to talk about ICD-10 codes— the frustrations, the battles, and the common-sense changes we're fighting for in the rare disease community that are pivotal to research, recognition and treatment of so many rare diseases. EPISODE HIGHLIGHTSWhat are ICD-10 codes?In 1999, the ICD-10 code was...2024-04-0428 min
Once Upon A GeneGenomics England Clinical Lead for Genetic Counseling - Amanda PichiniONCE UPON A GENE - EPISODE 219Genomics England Clinical Lead for Genetic Counseling - Amanda PichiniAmanda Pichini is a genetic counselor from Genomics England, here to share their initiatives and mission. EPISODE HIGHLIGHTSWhat is your role at Genomics England and how did your career develop?I work at Genomics England as the Director of Clinical Implementation and I'm responsible for the strategic clinical leadership for our products and services, ensuring research, diagnostics and clinical programs we support are in line with t...2024-02-2943 min
Once Upon A GeneMore of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie ReadeONCE UPON A GENE - EPISODE 184More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie ReadeJanie Reade is an author and mom to three adult sons, one with a severe neurodevelopmental disorder caused by a mutation in the SYNGAP1 gene. We'll talk about her unique perspective as a parent and also about her book, More of Everything: How I Became a Better Parent to My Child with Extreme Special Needs by Lifting My...2024-02-1551 min
Once Upon A GeneBeyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily CrawfordONCE UPON A GENE - EPISODE 215Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily CrawfordEmily Crawford left her lifelong dream job of being a teacher to surrender to the demands of care-giving. She joins me to discuss identity loss and metamorphosis after becoming a parent to a medically complex child. EPISODE HIGHLIGHTSCan you tell us about your family?I have four children— Chloe is my middle child. The first eight years of Chl...2024-01-1834 min
Once Upon A GeneThe Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike GragliaONCE UPON A GENE - EPISODE 211The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike GragliaRare disease parents and front line advocates, Kim Nye and Mike Graglia, join this episode for a discussion about the unseen struggles of rare disease parenthood and the delicate balance of operating an advocacy organization. EPISODE HIGHLIGHTSKim, can you share your perspective on how much work it is to lead an advocacy organization and the impact it has...2023-12-1449 min
Once Upon A GeneMastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer SiedmanONCE UPON A GENE - EPISODE 205Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer SiedmanJennifer Siedman is a relatable, rare mom who has a lot of experience with rare disease. She is the Director of Community Engagement at the Courageous Parents Network and joins us to share her approachable strategies for engaging with friends and acquaintances as a rare parent or caregiver.EPISODE HIGHLIGHTSWhat is the supermarket answer and what is the origin...2023-11-0228 min
Once Upon A GeneFundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay StevensONCE UPON A GENE - EPISODE 200Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay StevensLindsay Stevens is a CTNNB1 mom and a skilled fundraiser who has harnessed her passion and expertise to rally support for CTNNB1 research initiatives. She joins me for a discussion about the art of fundraising and how the smallest efforts can spark profound change.EPISODE HIGHLIGHTSCan you share about yourself and your family?I'm a mom of three...2023-09-2831 min
Once Upon A GeneA Rare Collection - Schools Out for the SummerONCE UPON A GENE - EPISODE 196A Rare Collection - School’s Out for the SummerThere'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. EPISODE HIGHLIGHTSKaren PrattWhen school lets out for the summer, it's stressful and I have to prepare in advance because I depend on school care for my sons so I can work. I r...2023-07-2720 min
Once Upon A GeneA Rare Collection - A Father's Day Special - Amidst the StormONCE UPON A GENE - EPISODE 191A Rare Collection - A Father's Day Special - Amidst the StormThere'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. EPISODE HIGHLIGHTSJessica FaresMy dad is a fixer by nature. He's watching his grandson struggle with the debilitating aspects of SYNGAP1 and his daughter learning to navigate the heartbreak of b...2023-06-1517 min
Once Upon A GeneA Rare Collection - Keep DiggingONCE UPON A GENE - EPISODE 187A Rare Collection - Keep DiggingThere'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. EPISODE HIGHLIGHTSAngela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorderWhen Yiannis was born on a Saturday evening in July 2020, we knew immediately that something wasn't right. He was whisked away to the NICU and n...2023-05-1818 min
Once Upon A GeneA Rare Collection - Wishing WellONCE UPON A GENE - EPISODE 183A Rare Collection - Wishing WellThere'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. EPISODE HIGHLIGHTSWendy ErlerIt's my privilege to work in patient advocacy within the rare disease community. The people who have come into my life have impacted me, people have opened their hearts and shared vulnerable moments, f...2023-04-2015 min
Once Upon A GeneDoctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Childs KCNT1 Epilepsy with Dadvocate Dr. Justin WestONCE UPON A GENE - EPISODE 182Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Child's KCNT1 Epilepsy with Dadvocate Dr. Justin WestDadvocate Dr. Justin West is the father to Andrew, who has a devastating disease called KCNT1, a rare infant-onset seizure disorder. Justin serves as President and Co-Founder of the KCNT1 Epilepsy Foundation.EPISODE HIGHLIGHTSHow has your work been impacted since Andrew's diagnosis?Surgeons tend to be problem...2023-04-1447 min
Once Upon A GeneA Rare Collection - To the Moon and BackONCE UPON A GENE - EPISODE 174A Rare Collection - To the Moon and BackThere'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. EPISODE HIGHLIGHTSNicole WrightAfter many seizures, McCall was diagnosed with Dravet Syndrome. Since her diagnosis, her symptoms, seizures and developmental delays have worsened and multiple hospitalizations led to long recoveries. We have grieved M...2023-02-1622 min
Once Upon A GeneA Rare Collection - New BeginningsONCE UPON A GENE - EPISODE 170A Rare Collection - New BeginningsThere'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. EPISODE HIGHLIGHTSNoelleWhen your child has a progressive, degenerative disease, you learn that every moment is precious and to roll with the punches. My son Logan has a rare genetic disorder called Sanfilippo Syndrome, a progressive a...2023-01-1917 min
Once Upon A GeneA Rare Collection - Holiday CheerONCE UPON A GENE - EPISODE 165A Rare Collection - Holiday CheerThere'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. EPISODE HIGHLIGHTSJessica JohnsonI love holiday cookies, parties, and gift-giving, but my best source of holiday cheer is my son. He is the definition of festive and his excitement is infectious, inspiring feelings of cheer and j...2022-12-1518 min
Once Upon A GeneYour Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca PirozziONCE UPON A GENE - EPISODE 162Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca PirozziGianluca Pirozzi is a dadvocate and Senior Vice President, Head of Development and Safety at Alexion, AstraZeneca. His daughter has Smith Magenis syndrome. EPISODE HIGHLIGHTSWhat is your connection to rare disease and how does it connect with your work?My childhood best friend was diagnosed with a r...2022-11-2438 min
Once Upon A GeneA Rare Collection - Beep, Beep, BeepONCE UPON A GENE - EPISODE 161A Rare Collection - Beep Beep BeepThere'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. EPISODE HIGHLIGHTSBrittany StinemanEmergency vehicles headed towards us and the sound of the vehicles coming to save my child's life played on repeat. The tears were different this time. They were tears of joy, gratitude a...2022-11-1721 min
Once Upon A GeneA Rare Collection - Batten Down the HatchesONCE UPON A GENE - EPISODE 156A Rare Collection - Batten Down the HatchesThere'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. EPISODE HIGHLIGHTSMy best friend- Kelly VandewerkerPrior to 2015, I lived a life unaffected by rare disease. When Effie became pregnant, I hosted her baby shower and couldn't wait for her baby to be born. I...2022-10-1315 min
Once Upon A GeneA Rare Collection - UnderestimatedONCE UPON A GENE - EPISODE 152A Rare Collection - UnderestimatedThere'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. EPISODE HIGHLIGHTSRyan Sheedy, Dad to ReynoldsWhen I think about the word underestimate, I think about an underdog. As a kid my favorite movie was Rudy, the story of Daniel Ruettiger, a young man determined to play f...2022-09-1518 min
Once Upon A GeneA Rare Collection - Easier Said Than DoneONCE UPON A GENE - EPISODE 147A Rare Collection - Easier Said Than DoneThere'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. EPISODE HIGHLIGHTSKatie Stevens, Executive Director of Team TelomereIt's back to school season which has me thinking about how the education system so often fails the most vulnerable children. In 2015, we moved from Idaho t...2022-08-1116 min
Once Upon A GeneA Rare Collection - I Will Never ForgetONCE UPON A GENE - EPISODE 148A Rare Collection - I Will Never ForgetThere'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. EPISODE HIGHLIGHTSElli BrimbleAs a researcher and genetic counselor, I work behind the scenes to help families craft their own stories. I met Nasha Fitter in 2016 when her daughter developed infantile spasms during a f...2022-07-1416 min
Once Upon A GenePicking the Brain of a Rare Disease Dad - With CTNNB1 Dadvocate - Casey ParksONCE UPON A GENE - EPISODE 140Picking the Brain of a Rare Disease Dad - with CTNNB1 Dadvocate - Casey ParksCTNNB1 Dadvocate Casey Parks, is back to talk about life and how things are going so far in 2022.EPISODE HIGHLIGHTSCan you share about your career and how you show up for that in addition to being a dad?I'm a senior deputy prosecuting attorney and I ask juries to convict criminals of the crimes they've...2022-06-2327 min
Once Upon A GeneA Rare Collection - Remember Who You AreONCE UPON A GENE - EPISODE 139A Rare Collection - Remember Who You AreThere'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. EPISODE HIGHLIGHTSMadeleine OudinWhen her daughter Margo was born, Madeleine couldn't wait to take her on adventures across the world. As Margo's due date approached, Madeleine had already applied for her passport and received i...2022-06-1624 min
Once Upon A GeneEpisode 138 - When Your Child is Facing the Most Severe Form of Human Epilepsy You fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer MerriamONCE UPON A GENE - EPISODE 138When Your Child is Facing the Most Severe Form of Human Epilepsy You Fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer MerriamJenifer Merriam and Niki Markou are courageous moms, serving on the Board of Directors for Chelsea's Hope Lafora Research Fund. Lafora disease is a severe, progressive, fatal form of epilepsy that manifests in teens. They share what it's like to cope with a child's suffering with a rare disease with no cure. These moms...2022-06-0936 min
Once Upon A GeneA Rare Collection - Up At NightONCE UPON A GENE - EPISODE 135A Rare Collection - Up at NightThere'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. EPISODE HIGHLIGHTSMike Gralia, Dad to Tony and Founder of the Syngap Research FundMike recalls the nights insomnia kept him awake, looking at Tony as he rested, and wondering what his life would hold. In t...2022-05-1925 min
Once Upon A GeneThe Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe DiseaseONCE UPON A GENE - EPISODE 134The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe DiseaseAlison Breitbarth's son was the first baby in the state of Indiana to be screened for Pompe Disease and receive a positive result. She joins me to talk about the importance of newborn screening.EPISODE HIGHLIGHTSWhere does your diagnosis journey begin?Ten days after my son Grant was born, I received a call about results from his newborn...2022-05-1237 min
Once Upon A GeneRare Disease Caregiving Post Childhood with Rare Mom and Advocate Karen McEwenONCE UPON A GENE - EPISODE 132Rare Disease Caregiving Post Childhood with Rare Mom and Advocate Karen McEwenKaren McEwen has an 18 year old daughter with laryngeal cleft primary ciliary dyskinesia (PCD). Her and her daughter have been active advocates through speaking, writing and support groups. They're also fundraising for the PCD Foundation and working to get a PCD clinic at major hospitals in every state. EPISODE HIGHLIGHTSTell us about your family and your daughter Elana.My daughter Elana i...2022-04-2840 min
Once Upon A GeneA Rare Collection - Unexpected FindingsONCE UPON A GENE - EPISODE 126A Rare Collection - Unexpected FindingsThere'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. EPISODE HIGHLIGHTSKatheron IntsonKatheron started her PhD in basic neuroscience as a learning and memory researcher. She shares her experience of GRIN1 and how when patients became involved, her work transformed and unexpected findings resulted in a...2022-03-1717 min
Once Upon A GeneA Rare Collection - This Is UsONCE UPON A GENE - EPISODE 122A Rare Collection - This is UsThere'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. EPISODE HIGHLIGHTSBecause of YouHeather shares all the ways that she and her family are reminded of the bigger, more deeper meanings of life through, all thanks to her daughter Kate. Their faith has grown a...2022-02-1722 min
Once Upon A GeneHow the Caregivers Mental Health and Physical Well-Being are Impacted Right Alongside Our Rare Disease Kiddos with Advocate and Co-Founder of Hello Sleuth - Sehreen Noor AliONCE UPON A GENE - EPISODE 121How the Caregivers Mental Health and Physical Well-Being are Impacted Right Alongside Our Rare Disease Kiddos with Advocate and Co-Founder of Hello Sleuth - Sehreen Noor AliSehreen Noor Ali is the Co-Founder of Sleuth, a website that compiles stories and information from rare disease parents. It's a smart technology designed to identify resources, solutions and cures— a growing group of parents working together. Sehreen is talking with me about trauma resulting from medical uncertainty.EPISODE HIGHLIGHTS...2022-02-1032 min
Once Upon A GeneA Rare Collection - New BeginningsONCE UPON A GENE - EPISODE 117A Rare Collection - New BeginningsThere'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 HIGHLIGHTSLeah MooreIn the spring, Leah and her family planted flowers in the garden, but only one flower grew. The single sunflower signified rebirth in...2022-01-1323 min
Once Upon A GeneA Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke RosenONCE UPON A GENE - EPISODE 116A Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke RosenLuke 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 HIGHLIGHTSCan you tell us about your daughter and the KIF1A diagnosis?2022-01-0649 min
Once Upon A GeneA Rare Collection - LullabiesONCE UPON A GENE - EPISODE 113A Rare Collection- LullabiesThere'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 HIGHLIGHTSMariaIn 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...2021-12-1626 min
Once Upon A GeneTurkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives with Tyra Skibington and Tracey BeckettONCE UPON A GENE - EPISODE 110Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our LivesIn 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 DayA 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 special Ch...2021-11-2544 min
Once Upon A GeneA Rare Collection - Rare Disease Storytelling with Felix Townsin, Erica Jolene Stearns, Brianna Colquitt, and Mahrynn McLaughlinONCE UPON A GENE - EPISODE 104A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna ColquittThere'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 HIGHLIGHTSFelix TownsinThe day his sister lost her life to...2021-10-1421 min
Once Upon A GeneHow We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue, and Decision Fatigue with Counselor Rose ReifONCE UPON A GENE - EPISODE 103How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue and Decision Fatigue with Counselor Rose ReifRose 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 HIGHLIGHTSWhat can we do as caregivers when the things...2021-10-0741 min
Once Upon A GeneFive Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan PerlsteinONCE UPON A GENE - EPISODE 098Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan PerlsteinEthan Perlstein is Founder of Perlara and on Clubhouse every Tuesday and Thursday in the Gene Fixers Club. EPISODE HIGHLIGHTSWhat 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 opened my eyes to the r...2021-09-0242 min
Once Upon A GeneFinding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie ShortONCE UPON A GENE - EPISODE 096Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie ShortBillie 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 HIGHLIGHTSShare 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 a...2021-08-1927 min
Once Upon A GeneA Rare Collection - Rare Disease Storytelling - Skin In the Game with Adam Johnson, Nathan Peck and Marni CartelliONCE UPON A GENE - EPISODE 095A Rare Collection- Skin in the Game with Adam Johnson, Nathan Peck and Marni CartelliThere'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 HIGHLIGHTSAdam Johnson, DadVocateAdam made his way through the gates...2021-08-1217 min
Once Upon A GeneEffisode - Rare and Relatable - Rare Disease Stories on Clubhouse with Effie Parks and Bo BigelowIntro music by Scott Holmes2021-08-1004 min
Once Upon A GeneA Rare Collection- Re-Runs with Patrick James Lynch, Anna Laurent and Michelle MorganoffONCE UPON A GENE - EPISODE 091Episode 091 - A Rare Collection- Re-Runs with Patrick James Lynch, Anna Laurent and Michelle MorganoffThere'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 HIGHLIGHTSPatrick James LynchPatrick shares a story of him and his brother growing...2021-07-1518 min
Once Upon A GeneA Rare Collection - SuperheroesONCE UPON A GENE - EPISODE 087A Rare Collection - SuperheroesThis is a new edition to the podcast that is built on the power of storytelling. This extra special first episode of A Rare Collection will be released once a month and will feature three people from the rare disease community sharing a short story. This month's theme is Superheroes.EPISODE HIGHLIGHTSCasey Parks, Father to Ford with CTNNB1Casey shares a story from when he was little, going...2021-06-1718 min
Once Upon A GeneWhy a Diagnosis Matters with HNRNPH2 Rare Mom Angela LindigONCE UPON A GENE - EPISODE 086Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela LindigAngela Lindig's daughter had a diagnosis of Atypical Rett for years, but was recently diagnosed with HNRNPH2. Angela runs Idaho Parents Unlimited, which supports, empowers, educates and advocates to enhance the quality of life for Idahoans with disabilities and their families. Amber is also working on a campaign about why diagnosis matters and is working to help families access whole exome sequencing (WES) tests.EPISODE HIGHLIGHTS...2021-06-1036 min
Once Upon A GeneHelping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles StewardONCE UPON A GENE - EPISODE 085Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles StewardCharles Steward was one of the first scientists to work on the human genome project, led the original research analysis for human chromosome 10 and has established international collaborations on various projects. He's currently the Patient Advocacy and Engagement Lead for Congenica. He's a brilliant scientist and a super DadVocate to two children with rare diseases and medical complexities.EPISODE HIGHLIGHTSCan...2021-06-0330 min
Once Upon A GeneAdvocates Come in Small Packages - My Life with Blau Syndrome with Keira HowellONCE UPON A GENE - EPISODE 083 Advocates Come in Small Packages - My Life With Blau Syndrome With Keira HowellKeira Howell is a twelve year old living with Blau Syndrome joining me to share her story of living with a chronic disease.EPISODE HIGHLIGHTSTell me about yourself.I'm twelve years old and I have Blau Syndrome. I love to act, sing and do anything related to musical theater. Why would you like to te...2021-05-2020 min
Once Upon A GeneRare Disease - The Ultimate Special Teams with Uplifting Athletes with Rob LongONCE UPON A GENE - EPISODE 082 Rare Disease - The Ultimate Special Teams with Uplifting Athletes with Rob LongRob Long is the Executive Director at Uplifting Athletes and is a rare brain cancer survivor. His passion and drive for Uplifting Athletes makes him an inspirational hero and he fights relentlessly everyday so others don't have to face challenges in isolation. EPISODE HIGHLIGHTSCan you share your story about discovering a rare illness in college?In my senior year at Sy...2021-05-1340 min
Once Upon A GeneRare Disease Adoption with Josh and Monica PoynterONCE UPON A GENE - EPISODE 081Rare Disease Adoption with Josh and Monica PoynterJosh and Monica Poynter have a son named Tag with severe Hemophilia Type A, a rare genetic disease which makes him vulnerable to prolonged bleeding. Despite this, these rare parents knew they wanted to grow their family. They were unable to have another biological child and welcomed their adopted son Trey into their family. Trey shares the same genetic disease as Tag. He was abandoned at 2 years old and spent 7 years living in an orphanage in China. Trey is now in...2021-05-0627 min
Once Upon A GeneCreating Space for Mental Health for Men Living with Rare Diseases with David RossDavid Ross is a patient advocate, passionate about mental health and creating space for males experiencing mental health struggles. His activism began in 2017 when he was diagnosed with a rare disease called Cowden syndrome. He became dedicated to raising awareness and helping to support others impacted by Cowden syndrome.EPISODE HIGHLIGHTSWhen were you introduced to the rare disease world?I was diagnosed with my rare disease, Cowden syndrome, about three and a half years ago and it's been a roller coaster journey learning about my condition, managing my health and the impact...2021-04-2227 min
Once Upon A GeneMedia with a Mission with Believe Limited CEO Patrick James LynchMedia with a Mission with Believe Limited CEO Patrick James LynchPatrick James Lynch has to inject himself with medication every other day because his liver doesn't produce a protein that helps his blood vessels seal when they burst. He and his brother were both born with hemophilia and he's since lost his brother to the disorder. After his loss, he felt compelled to reach others to provide support and awareness about the importance of life-sustaining medicine. Patrick is the founder and CEO of Believe Limited, he hosts camps, produces web series, creates workbooks and workshops, hosts...2021-04-1540 min
Once Upon A GeneTop Tips on Advocating For Your Child with Momvocate Kara KarlsonONCE UPON A GENE - EPISODE 077 Top Tips on Advocating For Your Child with Momvocate Kara Karlson Kara Karlson is a fellow rare disease mama and attorney who is advocating hard in the policy world. She's currently serving on the Governor's Developmental Disability Advisory Council ("DDAC") where she helps set policy and develop programs for the developmentally disabled in Arizona. She is sharing her top tips for becoming your best advocate. EPISODE HIGHLIGHTS Tell me about your daughter and how you are part of the rare disease community. I g...2021-04-0823 minOnce Upon A GeneEffisode - Nacho, Nacho ManTUNE INTO THE ONCE UPON A GENE PODCASTSpotifyApple PodcastsStitcherOvercastCONNECT WITH EFFIE PARKSWebsiteTwitterInstagramBuilt Ford Tough Facebook Group2021-04-0606 min
Once Upon A GeneAllStripes - Jump Start New Research for Your Rare Disease with Caitlin NicholsONCE UPON A GENE - EPISODE 076AllStripes: Jump Start New Research for Your Rare Disease with Caitlin NicholsCaitlin Nichols is the Scientific Affairs and Research Manager at AllStripes— the first and only research platform dedicated to rare diseases. They make it easy for patients to contribute to new treatment studies from home. They do the work to collect, analyze and de-identify medical records to help power faster and better drug development. They translate medical data into actionable insights to unlock new treatments for rare disease. LINKS AND RESOURCES MENTIONED Once Upo...2021-04-0126 minOnce Upon A GeneAccelerating Clinical Research - Harsha Rajasimha, Founder and CEO of Jeeva InformaticsONCE UPON A GENE - EPISODE 071 Accelerating Clinical Research - Harsha Rajasimha, Founder and CEO of Jeeva Informatics After losing his child to a rare congenital disease in 2012, Harsha Rajasimha applied his years of post-doctoral genomics data research experience at National Institutes of Health to develop a technology platform to accelerate clinical research. As the Founder and CEO of Jeeva Informatics and Founder and Chairman of the international humanitarian nonprofit Indo-US Organization for Rare Diseases (IndoUSrare), he's on a mission to bring fresh perspectives and innovation to get faster cures by engaging patients and participants...2021-02-2528 min
Once Upon A GeneBen's Friends A Rare Disease Social and Support Platform with Ben MunozRare Disease Day is on Sunday, February 28th, 2021 and I'd love to know how you're celebrating and what Rare Disease Day means to you. Share a short voicemail message with me here!Ben Munoz is the President and Co-Founder of Ben's Friends. The organization is dedicated to ensuring that patients with rare disease or chronic illness and their caregivers, family and friends have a safe and supportive place to connect with others. They're a network of patient communities for anyone affected by rare disease or chronic illness and they're growing every day....2021-02-1121 min
Once Upon A GeneThe Glass Child - Being a Sibling to My Rare Disease Sisters with Madison McLaughlinAs 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 HIGHLIGHTSCan you share a bit about your sisters?I'm the oldest of four girls. Marissa is 18, Mallory is 16 and Mahrynn is 14. Marissa and Mahrynn have an ultra-rare disease t...2020-12-1753 min
Once Upon A GenePediatric Occupational Therapy with OT4Lyfe - Sarah PuttSarah 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 HIGHLIGHTSTell 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 other people affiliated with the practice area to discuss anything...2020-12-1051 minOnce Upon A GeneSLC13A5 - TESS Research Foundation with Kim NyeONCE UPON A GENE - EPISODE 057 SLC13A5 - TESS Research Foundation with Kim Nye Kim Nye is the mother of four children and the President and Co-Founder of the TESS Research Foundation, a nonprofit organization on a mission to find better treatment options and a cure for SLC13A5— a rare disease that affects two of her kids. EPISODE HIGHLIGHTS Tell us about your children with SLC13A5 and about where your journey began. We were living in England, in graduate school and we were having a baby gi...2020-11-1947 minOnce Upon A GeneRare Leader - Patricia Weltin, CEO, Beyond the DiagnosisONCE UPON A GENE - EPISODE 056 Rare Leader - Patricia Weltin, CEO, Beyond the Diagnosis Patricia Weltin shares her organization, Beyond the Diagnosis, an art exhibit with a focus on portraits of rare disease. Their goal is to put a face to all rare diseases through a traveling exhibit around the globe. EPISODE HIGHLIGHTS Can you tell us about your work and about Beyond the Diagnosis? I started working with the Rhode Island Rare Disease Foundation and we had a rare disease day event once per year. Senator Whitehouse...2020-11-1231 minOnce Upon A GeneOne Woman’s Kindness Sparks a Neighborhood To Do the SameONCE UPON A GENE - EPISODE 055 One Woman’s Kindness Sparks a Neighborhood To Do the Same We live in Mercer Island, a beautiful city across the bridge from Seattle. It's safe, quiet and clean and it's only missing an inclusive playground. I don't know many people here. I met a mom through birth to three, two other moms who emailed me after reading about my podcast in the Mercer Island Reporter and my two neighbors. Casey, the kids and I recently went out on a family walk before the Seahawks game on a p...2020-11-0520 minOnce Upon A GeneRARE - A Brand With A Purpose With Theresa Thomas and Kristine HoestermannONCE 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 community? Theresa: I be...2020-10-2929 minOnce Upon A GeneAdam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your StoryONCE 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 back into self-care and worki...2020-10-1542 minOnce Upon A GeneTruncas Arteriosus - A Rare Form of Congenital Heart Disease with Sonja VoiceONCE 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 home in Seattle to Boston to deliver Charlotte s...2020-10-0837 min
Once Upon A GeneReflecting on 50 Episodes with Effie and CaseyONCE 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...2020-10-0118 min
Once Upon A GeneThanatophoric Skeletal Dysplasia with Ashequka LaceyThanatophoric Skeletal Dysplasia with Ashequka LaceyAshequka 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 HIGHLIGHTSTell me about Jakobi.> Jakobi is 18 months old and was born with a rare form of dwarfism called thanatophoric skeletal dysplasia. The gene mutation resulted in short limbs, a small rib cage and s...2020-09-2435 min
Once Upon A GeneWhat is Chronically Surviving with Marcelle LongladeWhat is Chronically Surviving with Marcelle LongladeMarcelle Longlade is living with multiple rare diseases. Her platform, Chronically Surviving connects community, offers accessible yoga and other healing practices and services. EPISODE HIGHLIGHTSCan 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 biomedical engineer job. ...2020-09-1733 min
Once Upon A GeneCiitizen - Take Control of Your Own Medical Records and Advance Research with Nasha FitterCiitizen - Take Control of Your Own Medical Records and Advance Research with Nasha FitterNasha 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 Disease Division for Ciitizen, a technology company that enables fast and seamless...2020-09-1030 min
Once Upon A GeneA Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane KaneA Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane KaneIf 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 her family and change it forever. EPISODE HIG...2020-09-0327 min
Once Upon A GeneTwo Disabled Dudes - Kyle Bryant and Sean BaumstarkTwo Disabled Dudes - Kyle Bryant and Sean BaumstarkWhen 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 excited they're joining me....2020-08-2736 min
Once Upon A GeneRare Together, Watch Together - Film Selections from The Disorder Channel in Partnership with Global GenesRare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global GenesDan 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 party with Dan and Bo. This event is free for patients and advocates, so check it out!2020-08-2627 min
Once Upon A GeneA Mother's Crusade to Find a Cure for Her Son - Amber Freed, Founder and CEO, SLC6A1 ConnectA Mother’s Crusade to Find a Cure for Her Son - Amber FreedAmber 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 HIGHLIGHTSGive us...2020-08-2042 min
Once Upon A GeneDavid Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into ActionDavid Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into ActionDavid 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 HIGHLIGHTSCan 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 incentives need to be in place t...2020-08-1353 min
Once Upon A GeneWSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa HennigerWSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa HennigerLisa 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 HIGHLIGHTSCan you tell us about your background and how you got involved in ROAR?How d...2020-08-0630 min
Once Upon A GeneTime is Brain - SynGap Research Fund with Mike GragliaTime is Brain: SYNGAP Research Fund with Mike GragliaBo 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 SYNGAP1, a...2020-07-3035 min
Once Upon A GenePhysical and Emotional Well-Being for the Caregiver with Tyra SkibingtonPhysical and Emotional Well-Being for the Caregiver with Tyra SkibingtonTyra 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 HIGHLIGHTSCan you tell us about Darby and how her disease affects he...2020-07-2346 min
Once Upon A GeneNext Steps - A Journey Through CRPS to an Above the Knee Amputee with Whitney LavenderNext Steps: A Journey Through CRPS to an Above-the-Knee Amputee with Whitney LavenderWhitney 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 Covid and had her leg amputated while isolated from her family. Whitney is an...2020-07-1634 min
Once Upon A GeneAnna Laurent on Alagille Syndrome and Her Road to AdvocacyAnna Laurent on Alagille Syndrome and Her Road to AdvocacyMy 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 HIGHLIGHTSCan you share some o...2020-06-2538 min
Once Upon A GeneSage Graves - Estate Planning, Guardianship, Special Needs TrustsSage Graves - Estate Planning, Guardianship, Special Needs TrustsToday 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 HIGHLIGHTSShare 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 should we do it? Why should we do it? What's the di...2020-06-1838 min
Once Upon A GeneThe Ladies Behind the EditsThe Ladies Behind the EditsI 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 HIGHLIGHTSWhat 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?2020-06-1134 min
Once Upon A GeneLoving Large: A Mother's Rare Disease Memoir With Patty HallONCE UPON A GENE - EPISODE 033Loving Large: A Mother's Rare Disease Memoir With Patti HallThis 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. EPISODE HIGHL...2020-06-0841 min
Once Upon A GeneQuarantine - What We're Missing, What We're Not, and What We Hope Sticks AroundONCE UPON A GENE - EPISODE 031Quarantine - What We're Missing, What We're Not, and What We Hope Sticks AroundSynthiea and Effie are talking about what they miss, what they don't miss and what they hope sticks around post-covid pandemic. EPISODE HIGHLIGHTSWhat 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 m...2020-05-2131 min
Once Upon A GeneTrust Your Instincts; An Early Intervention Can Save Your LifeONCE UPON A GENE - EPISODE 030Trust Your Instincts; An Early Intervention Can Save Your LifeAnjela 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 HIGHLIGHTSTell us about yourself and your daughter.How did you get t...2020-05-1437 min
Once Upon A GenePut Your Own Oxygen Mask On FirstONCE UPON A GENE - EPISODE 029Put On Your Own Oxygen Mask FirstMy 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 to check in. EPISODE HIGHLIGHTSTell us about w...2020-05-0730 min
Once Upon A GeneRare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film FestivalONCE UPON A GENE - EPISODE 028Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film FestivalBo 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 MENTIONEDDisorder: The Rare Disease Film Festivalhttps://www.rarediseasefilmfestival.com/ Episode 15: Films and Fatherhood with Daniel DeFabio https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8...2020-04-3036 min
Once Upon A GeneTherapy Check-In With Rose ReifONCE UPON A GENE - EPISODE 027Therapy Check-in with Rose ReifMy 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 HIGHLIGHTSTell me about what you do and why you do it.What are some w...2020-04-2338 min
Once Upon A GeneA Grandfather's Story of Guardianship, Caregiving and AdvocacyONCE UPON A GENE - EPISODE 025A Grandfather's Story of Guardianship, Caregiving and AdvocacyParents 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 HIGHLIGHTSTell everyone who you a...2020-04-0942 min
Once Upon A GeneMental Health and Coping During Covid-19ONCE UPON A GENE - EPISODE 023Mental Health and Coping During Covid-19I 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.EPISODE HIGHLIGHTS2020-03-2638 min
Once Upon A GeneSchool Closures and FAPEONCE UPON A GENE - EPISODE 022School Closures and FAPEAfter 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 HIGHLIGHTSTell us about your position at Pave. I'm the Director of...2020-03-1928 min
Once Upon A GeneMorgan's WonderlandONCE UPON A GENE - EPISODE 020Morgan’s WonderlandMorgan'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 Morgan's Wonderland.EPISODE HIGHLIGHTSWhat is Mo...2020-03-0527 min
Once Upon A GeneNeena Nizar and the Jansen's FoundationONCE UPON A GENE - EPISODE 019Neena Nizar and the Jansen's FoundationMy 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. She is a huge advocate, creating the Jansen's Foundation and working with...2020-02-2737 min
Once Upon A GeneThe Lucky FewONCE UPON A GENE - EPISODE 016The Lucky FewI'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 HIGHLIGHTSTell us about your son Kinlin, who has down syndrome. Kinlin is 11 months. We had a great pregnancy, he was...2020-02-0625 min
Once Upon A GeneA Fellow CTNNB1 MamaONCE UPON A GENE - EPISODE 014A Fellow CTNNB1 MamaTara 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 RESOURCES MENTIONEDParent’s Facebook Group Proloquo2GoTUNE INTO THE ONC...2020-01-2324 min
Once Upon A GeneSibling SupportONCE UPON A GENE - EPISODE 013Sibling SupportOn 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 disabilities. She has presented and written extensively on sibling issues, has conducted and published sibling research, and has facilitated Sibshops for young brothers and sisters of children with disabilities. 2020-01-1635 min
Once Upon A GeneRollin' With Spina BifidaONCE UPON A GENE - EPISODE 011Rollin' With Spina BifidaJoining me today is Whitney Stohr, a master advocate for her son and others in the community. There's a lot to learn from her family and a lot of good information in our conversation. CONNECT WITH WHITNEYWhitney Stohr on Facebook: https://www.facebook.com/whitney.stohrhendricksonMalichi’s Journey on Instagram: @rollin.w.spinabifidaInstagram: #spinabifida #redefiningspinabifida #hydrocephalusLINKS AND RESOURCES MENTIONEDChildren's Village Yakima Washington State Early InterventionP...2020-01-0240 min
Once Upon A GeneMy Pfieffer PfamilyONCE UPON A GENE - EPISODE 010My Pfeiffer PfamilySynthiea Kaldi was the first person I knew to call when I was told something was wrong with Ford. I admire her so much and would be lost without her humor and understanding. Finding someone like Synthiea, someone who lives with a lot of hard stuff but can also find the humor in it, is a really valuable resource for your mental health and general outlook. It's not easy being a parent, especially when your child has a complex medical need. Synthiea is further ahead in...2019-12-2633 min
Once Upon A GeneThe Fathers NetworkONCE UPON A GENE - EPISODE 009The Washington State Fathers NetworkAlong my own journey, I've felt passionate about capturing the perspective of fathers, grandfathers and other male caregivers. As moms, we may have an easier time connecting with other moms at therapy, school and on social media. My husband, a father with a child with complex needs has had a different experience than I have. I want to ensure we're both taking care of ourselves individually. I'm constantly reading Facebook posts about moms wishing there was someone for their husbands to talk to about...2019-12-1945 min
Once Upon A GeneHeartismONCE UPON A GENE - EPISODE 008Heartism of the BitterrootMy guest today is a pillar in her community, starting an inclusive community center called Heartism Community Center, offering kids of any ability free cooking classes, art classes, yoga classes and more. Jessica Fitzpatrick is the Founder and Director of Heartism Community Center and Bitterroot Arts for Autism, a Seattle non-profit serving special needs children and families. Her background is Therapeutics in Recreation and Psychology with a Bachelor of Science and a passion for understanding the world in a new way as an a...2019-12-1248 min