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Effie Parks
Once Upon A GeneClaimedEpisodes
Effie Parks
Once Upon A Gene
Claimed 15 people rated this podcast
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Episodes of Once Upon A Gene
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ONCE 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 patho
ONCE UPON A GENE - EPISODE 229Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia ZilberFrances Muenzer Pimentel and S
ONCE 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-scien
Connect with Kara, host of The Special Needs Mom Podcast:Instagram: https://www.instagram.com/thespecialneedsmompodcast/Website: https://www.kararyska.com/Coaching OpportunitiesPathway to Peace {Group Coaching Program}: Schedule a Consult
ONCE UPON A GENE - EPISODE 226From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott CopelandJillian and Scott Copeland are husband and wife, ad
ONCE UPON A GENE - EPISODE 225The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah SiedmanNoah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a de
ONCE 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, th
ONCE UPON A GENE - EPISODE 223Rare Epilepsy Network with Ilene Penn Miller and Christina SanlnocencioIlene Miller and Christina SanInocencio are advocates doing groundbreaking work at the Rare Epilepsy Network (REN), a volunteer network of e
ONCE UPON A GENE - EPISODE 222Krabbe Disease with Kasey FeldtKasey Feldt is the mom of two- one year old Lukas and Dawson, who passed away from Krabbe disease. Kasey has become a passionate and unstoppable advocate, not only advocating for K
ONCE UPON A GENE - EPISODE 221BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFayI'm joined by Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay to discuss BeginNGS, a grou
ONCE UPON A GENE - EPISODE 220A Rare Collection - From Financial Strain to Supportive Gain - A Call For ActionThere's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from th
ONCE 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 r
ONCE UPON A GENE - EPISODE 218James G Robinson - More Than We Expected Author - Five Years with a Remarkable ChildJames Robinson is a dad and the author of More Than We Expected: Five Years With a Remarkable Child, a deeply moving book and a
ONCE 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 wi
ONCE UPON A GENE - EPISODE 217Uniting Science and Hope - COMBINEDBrain and its Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo BichellTerry Jo Bichell is a rare mom, neuroscientist and th
ONCE UPON A GENE - EPISODE 201A Rare Collection - Five Advocacy Aces Share Their Conference CommandmentsEPISODE HIGHLIGHTSMelissa Hioco, STXBP1DO:Offer a family hospitality room where parents can see the broadcast and stay involved in th
ONCE UPON A GENE - EPISODE 216Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt HayMatt Hay has a disorder called Neurofibromatosis type 2 (NF2) and how he has more than o
ONCE 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
A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari
ONCE UPON A GENE - EPISODE 214A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne RugariAnne Rugari is an advocating powerhouse, an author of two children's books, a mom, and two of her children have
ONCE UPON A GENE - EPISODE 212Special pop up episode from our friends Daniel DeFabio and Bo Bigelow from the Disorder Channel - Pain Pointshttps://www.rarediseasefilmfestival.com/www.thedisordercollection.comhttps://www.facebook.com/raredi
The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia
ONCE 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 abo
ONCE UPON A GENE - EPISODE 210GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul KruszkaIf you're passionate about the evolving landscape of genetic testing, this episode is for you. Gay Grossman, Patient Advocacy & Engagement L
ONCE UPON A GENE - EPISODE 209A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New BabiesI'm joined by two new, rare moms, Emily and Katie, to discuss the topic of having additional children after you've had a child with a rare
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