Podcasts about rare diseases

In this conversation, Wendy Chung discusses the evolution of understanding genetic conditions, particularly in relation to autism, and the role of Simons Searchlight in patient advocacy. She emphasizes the importance of community support, global inclusion, and the hope for future therapies. The conversation highlights the significance of family connections and the collective effort in advancing research and treatment options for neurodevelopmental disorders.takeaways The understanding of autism has evolved significantly over the years. Community support is crucial for families dealing with genetic conditions. Simon's Searchlight aims to leverage collective knowledge for better outcomes. Language equity is essential for global participation in research. The importance of early detection and intervention cannot be overstated. Families play a vital role in providing feedback for research. The future of treatments looks promising with ongoing research. Building a supportive community can lead to better advocacy for children. The collaboration among researchers worldwide enhances the potential for breakthroughs. Celebrating milestones like 15 years of Simons Searchlight fosters hope and motivation

Send us a textIn this episode of At-the-Bench, hosts David McCulley and Misty Good interview Dr. Jennifer Wambach, a neonatologist and researcher specializing in rare neonatal lung diseases. Dr. Wambach shares her journey into neonatology, her research on genetic lung diseases, and the importance of mentorship in developing future physician-scientists. The conversation also covers the Undiagnosed Diseases Network, current research on genetic lung diseases including ABCA3 deficiency, and the challenges faced in rare disease research. Dr. Wambach emphasizes the need for resilience and adaptability in scientific careers, offering valuable advice for early-career investigators.Support the showAs always, feel free to send us questions, comments, or suggestions to our email: nicupodcast@gmail.com. You can also contact the show through Instagram or Twitter, @nicupodcast. Or contact Ben and Daphna directly via their Twitter profiles: @drnicu and @doctordaphnamd. The papers discussed in today's episode are listed and timestamped on the webpage linked below. Enjoy!

Niamh Ní Hoireabhaird, Disability activist and freelance journalist, assesses the new strategy on rare diseases, published by the Department of Health.

How can biotech leaders navigate the complexities of neurodegenerative research while tackling today's funding challenges? In this episode, host Elaine Hamm, PhD, welcomes Vikas Sharma, PhD, Chief Business Officer at QurAlis, for an insightful conversation on innovation, leadership, and fundraising in the biotech sector. Drawing from his extensive experience with ALS and neurodegeneration research, Vikas shares lessons on balancing science with business, navigating board dynamics, and finding creative approaches to raise capital. In this episode, you'll discover: Why genetic insights are reshaping neurodegenerative research. How to creatively approach funding when investors are focused on lower-risk, later-stage opportunities. Practical strategies for balancing science, investors, and board relationships to drive biotech success. Tune in to gain actionable strategies and leadership lessons that can help you move your biotech forward with confidence. Links: Connect with Vikas Sharma, PhD, and check out QurAlis. Connect with Elaine Hamm, PhD, and learn about Tulane Medicine Business Development and the School of Medicine. Connect with Jason Adair, MBA, and Kevin Eggan, PhD. Connect with Ian McLachlan, BIO from the BAYOU producer. Check out BIO on the BAYOU and make plans to attend October 28 & 29, 2025. Learn more about BIO from the BAYOU - the podcast. Bio from the Bayou is a podcast that explores biotech innovation, business development, and healthcare outcomes in New Orleans & The Gulf South, connecting biotech companies, investors, and key opinion leaders to advance medicine, technology, and startup opportunities in the region.

The deficits from the lead poisoning continue to intensify, Shannon channels her anger and grief into holding the people who hurt her son responsible.LEAD how this story ends is up to us is a true story written and produced by Shannon Burkett. Co-produced by Jenny Maguire. Directed by Alan Taylor. Starring Merritt Wever, Alessandro Nivola, Cynthia Nixon, and Cooper Burkett.EP4 features Eboni Booth, Sasha Eden, Kevin Kane, April Matthis, Alysia Reiner, and Mandy Siegfried. Casting by Alaine Alldaffer and Lisa Donadio. Music by Peter Salett. Sound Design by Andy Kris. Recording Engineer Krissopher Chevannes.For corresponding visuals and more information on how to protect children from lead exposure please go to https://endleadpoisoning.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

RARE MAMAS RISING- EPISODE 51 The Making of Rare Mamas: Reflections on Writing and Rare Parenting In this episode of Rare Mamas Rising, host Nikki takes listeners behind the pages of her upcoming book, Rare Mamas, to share how the writing journey mirrored the rare parenting journey in powerful and unexpected ways. Through honest storytelling, she unpacks the highs, the lows, and the lessons that connect directly to life as a rare mama. She covers: ·       The hardest and easiest chapters to write — from reliving the grief of “D-Day” to finding hope in Rising to the Call, the chapter that inspired the name of this podcast. ·       The easiest and hardest parts of the process — how writing drew on Nikki's creativity, career, and even her improv training, while publishing tested her patience and reminded her of the difficulties of rare parenting. ·       Unexpected lessons in calling and community — the reminder that doing good doesn't mean it's easy, the importance of going back to your “why,” and the gift of community and sisterhood that makes the journey possible. Nikki's hope is that listeners hear their own stories reflected in these lessons, and that when you read this book, you feel that same sisterhood woven through every page, and the solidarity of a community that is rising together.   Links & Resources Mentioned: Join the Book Interest List: www.raremamas.com/book   CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com   PODCAST INFO podcast@raremamas.com

As he finished his medical school exam, David Fajgenbaum felt off.  He walked down to the ER and checked himself in.  Soon he was in the ICU with multiple organ failure.  The only drug for his condition didn't work. He had months to live, if that.  If he was going to survive, he was going to have to find his own cure. Miraculously, he pulled it off in the nick of time. From that ordeal, he realized that our system of discovering and approving drugs is far from perfect, and that he might be able to use AI to find dozens, hundreds, even thousands of cures, hidden in plain sight, for as-yet untreatable diseases. EPISODE CREDITS:Reported by - Latif NasserProduced by - Maria Paz Gutiérrezwith mixing help from - Jeremy S. BloomFact-checking by - Natalie A. MiddletonVISIT:Everycure.org (https://www.everycure.org)EPISODE CITATIONS:Books -Blair Bigham -  Death Interrupted: How Modern Medicine is Complicating the Way We DieDavid Fajgenbaum - Chasing My Cure, (https://davidfajgenbaum.com/)Radiolab | Lateral Cuts:Check out Death Interrupted (https://radiolab.org/podcast/death-interrupted), a conversation with Blair Bigham about a worldview shifting change of heart.The Dirty Drug and the Ice Cream Tub (https://radiolab.org/podcast/dirty-drug-and-ice-cream-tub) to hear the crazy story about how Rapamycin was discovered.Signup for our newsletter!! It includes short essays, recommendations, and details about other ways to interact with the show. Sign up (https://radiolab.org/newsletter)!Radiolab is supported by listeners like you. Support Radiolab by becoming a member of The Lab (https://members.radiolab.org/) today.Follow our show on Instagram, Twitter and Facebook @radiolab, and share your thoughts with us by emailing radiolab@wnyc.org.Leadership support for Radiolab's science programming is provided by the Simons Foundation and the John Templeton Foundation. Foundational support for Radiolab was provided by the Alfred P. Sloan Foundation.

“We've been able to show that even by 30 days of age, we can predict with some accuracy if a child is going to have a diagnosis of autism,” says Dr. Geraldine Dawson, sharing one of the recent advancements in early diagnosis being aided by artificial intelligence.  Dr. Dawson -- a leading scholar in the field and founding director of the Duke Center for Autism and Brain Development – explains that an AI examination of a child's pattern of visits to medical specialists in its very early life is an objective diagnostic tool that can supplement the current subjective reports from parents which vary in reliability. Another objective diagnostic tool in development uses a smartphone app developed at Duke that takes video of babies watching images and applies AI-aided Computer Vision Analysis to measure for signs of autism. This enlightening Raise the Line conversation with host Lindsey Smith is loaded with the latest understandings about Autism Spectrum Disorder including advancements in early therapeutic interventions, the interplay of genetic and environmental factors, and the role of the mother's health and exposures during pregnancy. You'll learn as well about what Dawson sees as necessary societal shifts in how autism is perceived, the numerous factors contributing to a near tripling of diagnoses over the past two decades, and how early intervention and informed advocacy can make a meaningful difference in the lives of countless families.Mentioned in this episode:Duke Center for Autism and Brain Development If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

Tuberous Sclerosis Complex, epilepsy in children, and autism parenting—in this powerful episode, women's health coach and mom of four, Erin Trier, shares her family's eight-year journey to finally receiving a TSC diagnosis for her son, Brendan. She talks about the early seizures, navigating a rare genetic disorder, and managing the added challenges of autism and uncontrolled epilepsy. Erin opens up about the emotional and mental toll, the power of vulnerability, and the practical organization systems that help her family thrive—including her genius laundry strategy. She also shares why self-care, community connection, and support are essential for parents raising a medically complex child. You will not want to miss this episode. Resources Mentioned: Erin's website: www.erintrier.com Instagram Podcast: Empowered in Health

The effects of the neurotoxin are taking their toll on Cooper as Shannon desperately tries to navigate the severity of their new reality.LEAD how this story ends is up to us is a true story written and produced by Shannon Burkett. Co-produced by Jenny Maguire. Directed by Alan Taylor. Starring Merritt Wever, Alessandro Nivola, Cynthia Nixon, and Cooper Burkett.E43 features Jenny Maguire, JD Mollison, Laith Nakli, Deirdre O'Connell, Carolyn Baeumler, Zach Shaffer, and Monique Woodley. Casting by Alaine Alldaffer and Lisa Donadio. Music by Peter Salett. Sound Design by Andy Kris. Recording Engineer Krissopher Chevannes.For corresponding visuals and more information on how to protect children from lead exposure please go to https://endleadpoisoning.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

“I always say that singing and performing was as much a part of my DNA as cystic fibrosis.” Julia RaeFrom the moment Julia Rae could speak, she was singing, and from the moment she could dream, she was already imagining a bigger stage. As her mother fondly recalls, at just two years old, Julia was watching Barney on TV and asked, “How do I get in there and do that with him?” That instinct, that pull toward performance, was never just about the spotlight. For Julia Rae, the stage became her sanctuary, and later, her platform for purpose.Diagnosed with cystic fibrosis at birth, Julia's life has never followed an easy script. But instead of letting a chronic illness limit her, she embraced the full range of her voice, as a singer, actress, writer, and advocate. She didn't just want to perform; she wanted to make a difference.At 16, Julia founded Singing at the Top of My Lungs, a nonprofit inspired by her own hospital experiences. Initially, the organization supported both CF research and creative therapies at children's hospitals. But as larger institutions took a stronger lead in research, Julia saw a growing gap elsewhere.“I've decided to devote all of Singing at the Top of My Lungs to music and creative art therapies... They are significantly underfunded, not covered by insurance, and they are often, honestly, the unsung heroes of children's hospitals.”Julia's foundation now champions music and art therapies — the very programs that once transformed her own stays in sterile hospital rooms into spaces of joy and creativity. She knows firsthand that healing isn't just about medicine — it's also about expression, play, and being seen as more than your diagnosis.Her own career blossomed when a YouTube performance caught the attention of a Beverly Hills record producer, leading to her single “Be That Girl” being featured in the film The Greening of Whitney Brown. She's since performed the national anthem at major sports arenas, starred in national commercials, and most recently, in the 2024 film Playing Through. Her appearance on ABC's Listen to Your Heart introduced her to a national audience, but she never let fame outshine her mission.In parallel with her artistic pursuits, Julia has become a tireless advocate. She co-created and hosted Making It Matterwith the Boomer Esiason Foundation, currently leads Uncommon Lungs with Vertex Pharmaceuticals, and recently launched a podcast called A Deeper Look, spotlighting bold, thoughtful conversations with inspiring women.Julia Rae is more than a performer, she's a force. Her life is a testament to what happens when passion meets purpose, and when a voice refuses to be silenced by circumstance.For the chronic illness community, and for anyone who's ever been told “you can't” — Julia's story sings a different tune.She's not just making music. She's making it matter. Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

"Burnout and trauma are not mental illnesses. They live in your physiology. They live in your biology. They live very specifically in your nervous system,” Dr. Rola Hallam says with a conviction rooted in her own successful journey to overcome the effects of chronic stress she accumulated during many years on the frontlines of humanitarian crises in Syria and other conflict zones. Out of concern for the multitudes of health professionals who, like herself, spend years carrying the weight of their traumatic experiences without seeking help, or who pursue ineffective remedies for relieving it, Dr. Rola -- as she's known – has shifted her focus to being a trauma and burnout coach. Among her offerings is Beyond Burnout, a twelve-week program that includes multimedia content as well as live coaching and teaching about developing nervous system awareness and regulation. “Most wellness initiatives fail because they're not rewiring the nervous system to come out of survival mode and back into what is called the ventral-vagal state, which is our state of social connection and of healing and repair.” She also stresses that healing is not an individual pursuit, especially for providers who work in a relational field, and teaches about the benefits of borrowing from a colleagues' state of calm and offering them the same. Don't miss this insightful and giving conversation with host Lindsey Smith that covers Dr. Rola's wrenching experiences providing care in desperate conditions, the critically important distinction between empathy and compassion, and how empowering frontline workers to heal their trauma can uplift individuals and empower entire communities. Mentioned in this episode:Dr. Rola CoachingBeyond Burnout AssessmentCanDo - Humanitarian Aid If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

On this edition of The Mark White Show, Dr. Adam Friedman, Professor and Chair of Dermatology at The George Washington University School of Medicine & Health Sciences, shares the critical differences between generalized pustular psoriasis (GPP) and the more common plaque psoriasis, and why timely diagnosis and awareness can save lives. Then, Jamie Harding, Associate State Director for AARP Alabama, joins me to mark the 90th anniversary of Social Security, discuss the program's impact on millions of Americans, and share how we can work together to protect and strengthen it for generations to come.

Dr. Carole Keim welcomes Dr. David Tegay, DO, to The Baby Manual to talk about genetics, the different types of testing and screening involved in genetics, and how it's a key part of pediatric medicine. Dr. Tegay was in residency when he encountered a patient who required a consult from a clinical geneticist from Mount Sinai, and the experience fascinated him so much that he moved from his internal medicine residency to a fellowship in genetics. He discusses all aspects of his field with Dr. Keim. One of the first things Dr. Tegay explains about genetic testing is that most genetic tests are no different than other routine laboratory testing, using a blood sample or even a non-invasive cheek swab or saliva sample to do the testing. It's the results that are different from other testing. He and Dr. Keim discuss how prenatal genetic testing has developed, what kind of screening might occur during pregnancy, and the types of conditions a geneticist may be looking for. Dr. Tegay sheds light on the truth of birth defects, or congenital anomalies, and how frequently they may occur, including how many are not necessarily significant. The conversation exploring DNA, genetics, and exome sequencing, and the diseases or conditions such testing may reveal, is both enlightening and informative, explaining methodology and treatment for fetal and newborn ailments.Dr. David Tegay, DO, FACMG, FACOI:Dr. David Tegay, DO, is a clinical geneticist in Great Neck, NY and has over 25 years of experience in the medical field. He specializes in the areas of Clinical Genetics and Genomics & Internal Medicine. Dr. Tegay graduated from New York Institute of Technology College of Osteopathic Medicine in 1997. He is affiliated with the medical facilities North Shore University Hospital and St. Mary's Hospital Amsterdam.__ Resources discussed in this episode:The Holistic Mamas Handbook is available on AmazonThe Baby Manual is also available on Amazon__Contact Dr. Carole Keim MDlinktree | tiktok | instagram Contact Dr. David Tegay, DO, FACMG, FACOIlinkedin

As the lead wreaks havoc on Cooper's development, Shannon searches for answers. Desperate to get a handle on what was happening to her son, she grabs onto a lifeboat - nursing school. Andy tries to piece together the past to make sense of the present.LEAD how this story ends is up to us is a true story written and produced by Shannon Burkett. Co-produced by Jenny Maguire. Directed by Alan Taylor. Starring Merritt Wever, Alessandro Nivola, Cynthia Nixon, and Cooper BurkettEP2 features Keith Nobbs and Frank Wood. Music by Peter Salett. Sound Design by Andy Kris. Recording Engineer Krissopher Chevannes. Casting by Alaine Alldaffer and Lisa Donadio.For corresponding visuals and more information on how to protect children from lead exposure please go to https://endleadpoisoning.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

In this episode, we're joined by Karen Durrant, founder of the Autoinflammatory Alliance, who shares her powerful journey from a determined parent seeking a diagnosis for her child to the leader of a global patient advocacy movement. What began as a personal quest has evolved into an international network supporting thousands affected by autoinflammatory diseases. Karen discusses how her collaboration with Dr. Fatma Dedeoglu, a leading pediatric rheumatologist, helped bridge the gap between patient experience and medical research—ultimately contributing to the development of international clinical guidelines that are transforming care for rare disease patients worldwide. 

People tend to associate an illness with something unpleasant and often dangerous, and they have their reasons to think so. But there are some diseases which, unlike a common cold, look like superpowers. At least at first sight. In this video, you will get acquainted with some of them. These rare diseases not only leave scientists confused but also make their carriers similar to superheroes! Have you caught a cold? Oh, how unlucky! All these nasty symptoms again: a runny nose, non-stop coughing, and also, it hurts to eat! But you know what? Quit nagging! Your illness will pass in (about) a week. But imagine the life of those who suffer from chronic diseases! TIMESTAMPS Super memory 1:06 Insensibility to pain 2:28 Abilities to literally anything 3:47 Insensitivity to cold 5:01 The complete absence of fear 5:58 The Vampire disorder 7:03 Octopus people 8:38 Stone Man Syndrome 9:38 Werewolf Syndrome 10:20 Foreign accent syndrome 11:21 Subscribe to Bright Side : https://goo.gl/rQTJZz ---------------------------------------------------------------------------------------- Our Social Media: Facebook: / brightside Instagram: / brightgram SMART Youtube: https://goo.gl/JTfP6L 5-Minute Crafts Youtube: https://www.goo.gl/8JVmuC Have you ever seen a talking slime? Here he is – Slick Slime Sam: https://goo.gl/zarVZo ---------------------------------------------------------------------------------------- For more videos and articles visit: http://www.brightside.me/ Learn more about your ad choices. Visit megaphone.fm/adchoices

What happens when a rare disease diagnosis changes everything? When you're told your child will never walk, never talk. On this episode, we learn about Rett Syndrome and sit down with a parent who became his daughter's fiercest champion and a patient advocate committed to giving these families hope. Join us for an inspiring conversation about finding strength, building community, and living life to the fullest.To go behind the scenes and learn more about this episode, visit “Turning Pain Into Purpose: Advocating for Families with Rett Syndrome.”Thanks for listening! We're now on YouTube- follow us here. To receive episode updates and bonus material, subscribe to our mailing list here.

“Seeing that you can get through the most difficult times in life, succeed, and then also return to your community and work in service to your community was a lesson that has stuck with me,” says Dr. Uche Blackstock, the Founder and CEO of Advancing Health Equity and our guest on this inspiring episode of Raise the Line with Osmosis from Elsevier. It was a lesson the Harvard-trained physician learned from her own mother – also a Harvard trained physician – who overcame poverty, sexism and racial bias to forge an inspiring path.  In her bestselling book, Legacy: A Black Physician Reckons with Racism in Medicine, Dr. Blackstock weaves her mother's remarkable story with her own and argues for systemic change in a healthcare system riddled with racially-biased practices and policies that impact patient outcomes. As she explains to host Lindsey Smith, Advancing Health Equity's work to drive measurable and sustainable change is focused on embedding equity as a core value in the leadership, strategy, and organizational practice of health systems. “We exist to challenge inequities, empower underrepresented communities, and help build a healthcare system where everyone can thrive.” Don't miss a thought-provoking conversation with a nationally respected voice that also addresses race correction factors that impact the care of Black patients, and the work required of health institutions to build trust in effected communities.Mentioned in this episode:Advancing Health EquityLegacy: A Black Physician Reckons with Racism in Medicine If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

A mysterious dust fills a young family's apartment. The truth begins to unravel when the mother gets a call from the pediatrician - the monster deep within the walls has been unleashed. LEAD how this story ends is up to us is a true story written and produced by Shannon Burkett. Co-produced by Jenny Maguire. Directed by Alan Taylor. Starring Merritt Wever, Alessandro Nivola, Cynthia Nixon, and Cooper Burkett. EP1 features Zak Orth, Jenny Maguire, Daphne Gaines, and Micheal Gaston. Music by Peter Salett. Sound Design by Andy Kris. Recording Engineer Krissopher Chevannes. Casting by Alaine Alldaffer and Lisa Donadio.For corresponding visuals and more information on how to protect children from lead exposure please go to https://endleadpoisoning.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Send us a textIn this episode, we sit down with Dr. Garabet Yeretssian, PhD, Senior Program Manager at the Chan Zuckerberg Initiative (CZI), to discuss how collaborative infrastructure and emerging technologies are reshaping research into necrotizing enterocolitis (NEC). Garabet shares how his background in GI inflammation and rare diseases led him to focus on cross-disciplinary research support, including CZI's Rare As One Network and its emphasis on patient-led science.We explore how tools like single-cell transcriptomics, organoid modeling, and AI-driven biomarker discovery are helping scientists better understand NEC pathophysiology — and potentially identify early risk markers. Garabet also talks about the growing effort to bridge the gap between adult GI research and neonatal care, and how aligning researchers, clinicians, and families can accelerate progress in diagnosis, prevention, and treatment.The episode highlights CZI's funding approach, which requires genuine collaboration with patient organizations, and outlines strategies for researchers and clinicians to engage with private funders. For those attending the NEXT Symposium, Garabet previews his role in sessions focused on inflammation, translational science, and scalable technologies.Listeners can learn more and register for the 2025 NEXT Symposium at nextsociety.org using promo code incubator for 10% off. Support the showAs always, feel free to send us questions, comments, or suggestions to our email: nicupodcast@gmail.com. You can also contact the show through Instagram or Twitter, @nicupodcast. Or contact Ben and Daphna directly via their Twitter profiles: @drnicu and @doctordaphnamd. The papers discussed in today's episode are listed and timestamped on the webpage linked below. Enjoy!

“Pandemics are a political choice. We will not be able to prevent every disease outbreak or epidemic but we can prevent an epidemic from becoming a pandemic,” says Dr. Joanne Liu, the former International President of Médecins Sans Frontières/Doctors Without Borders and a professor in the School of Population and Global Health at McGill University. You are in for a lot of that sort of frank and clear-eyed analysis in this episode of Raise the Line from Dr. Liu, whose perspective is rooted in decades of experience providing medical care on the frontlines of major humanitarian and health crises across the globe, as well as wrangling with world leaders to produce more effective responses to those crises and to stop attacks on medical facilities and aid workers in conflict zones. Firsthand accounts from the bedside to the halls of power are captured in her new book Ebola, Bombs and Migrants, which focuses on the most significant issues during her tenure leading MSF from 2013-2019.  The book also contains insights about the geopolitical realities that hamper this work, including lax enforcement of international humanitarian law, and a focus on national security that erodes global solidarity. Join host Lindsey Smith as she interviews this leading voice on our preparedness to meet the needs of those impacted by violent conflict, forced migration, natural disasters, disease outbreaks and other grave challenges. If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

Lexi Silver is 15 years old. She lost both of her parents before she turned 11. That should tell you enough—but it doesn't. Because Lexi isn't here for your pity. She's not a sob story. She's not a trauma statistic. She's a writer, an advocate, and one of the most emotionally intelligent people you'll ever hear speak into a microphone.In this episode, Lexi breaks down what grief actually feels like when you're a kid and the adults around you just don't get it. She talks about losing her mom on Christmas morning, her dad nine months later, how the system let her down, and how Instagram trolls tell her she's faking it for attention. She also explains why she writes, what Experience Camps gave her, how she channels anger into poems, and what to say—and not say—to someone grieving.Her life isn't a Netflix drama. But it should be.And by the way, she's not “so strong.” She's just human. You'll never forget this conversation.RELATED LINKS• Lexi on Instagram: @meet.my.grief• Buy her book: The Girl Behind Grief's Shadow• Experience CampsFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Katie Andraski learns about CRPS from her neighbor

The huge cost of treating rare diseases Guest: Joel Lexchin, Professor emeritus at the York University Faculty of Health where he taught about pharmaceutical policy Learn more about your ad choices. Visit megaphone.fm/adchoices

View From Victoria: More backlash over rare disease drugs in BC Guest: Vaughn Palmer, Vancouver Sun Columnist Learn more about your ad choices. Visit megaphone.fm/adchoices

“As parents dedicated to getting a treatment for our children in their lifetimes, we have turned the rare disease drug development landscape upside down and created a new model,” says Nicole Johnson, co-founder and executive director of the FOXG1 Research Foundation.  That's not an exaggeration, as the foundation is on track to make history as it begins patient clinical trials on a gene replacement therapy next year. The former TV news producer and media executive unexpectedly entered the world of patient advocacy and drug research after her daughter, Josie, was born with FOXG1, a genetic disorder which causes severe seizures and impedes normal movement, speech, and sleep among other problems. Johnson is also making an impact in another important dimension of the rare disease space in her efforts to educate parents, teachers, and students about disability inclusion through her Joyfully Josie book series and “Live Joyfully” education programs. Tune-in to this fascinating Year of the Zebra conversation with host Lindsey Smith to find out how the foundation is aiming to bring a drug to market in less than half the time and at a fraction of the cost than the industry standard, and how this model might impact research on other rare disorders. Mentioned in this episode:FOXG1 Research FoundationJoyfully Josie Book If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

RARE MAMAS RISING- EPISODE 50 Introducing Rare Mamas: A Rare Disease Parenting Book by Nikki McIntosh Nikki McIntosh—rare disease mom, advocate, caregiver, and founder of Rare Mamas—shares her biggest news yet: the upcoming release of her debut book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease, launching September 23rd. This heartfelt and practical rare disease parenting book is written for mothers of children with rare diseases who are navigating the overwhelming world of rare diagnoses, caregiving responsibilities, and medical advocacy. Tune in to hear the emotional story behind the book, what's inside, and how you can be part of this powerful movement of support, strength, and sisterhood for rare disease moms. In this episode, Nikki shares: Why she wrote Rare Mamas, a first-of-its-kind resource for moms raising children with rare diseases What's inside the book (28 chapters packed with caregiver tools, advocacy strategies, emotional support, and stories from lived experience) How she kept writing through surgeries, hospital stays, exhaustion, and uncertainty What this guide offers for parents of medically complex children—including guidance on healthcare, education, systems, and self-care How to join the Rare Mamas Book Interest List and help share this support resource with the broader rare disease community Links & Resources Mentioned: Join the Book Interest List: www.raremamas.com/book Follow on Instagram: @rare_mamas Become a Rare Mamas Ambassador – DM @rare_mamas or email nikki@raremamas.com to get involved   CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com   PODCAST INFO podcast@raremamas.com

In this Mission Matters episode, Adam Torres interviews Karen Ho, Founder and CEO of Lumina BioConsulting, about her mission to fast-track therapies for pediatric rare diseases. Drawing on personal experience and deep scientific expertise, Karen explains how cutting-edge biotech and regulatory flexibility are opening new doors for children previously left without options. This interview is part of the Milken Global Conference coverage by Mission Matters. Big thanks to the ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Milken Institute⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ for inviting us to cover the conference. Follow Adam on Instagram at ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://www.instagram.com/askadamtorres/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ for up to date information on book releases and tour schedule. Apply to be a guest on our podcast: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://missionmatters.lpages.co/podcastguest/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Visit our website: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://missionmatters.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠More FREE content from Mission Matters here: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://linktr.ee/missionmattersmedia Learn more about your ad choices. Visit podcastchoices.com/adchoices

In this Mission Matters episode, ⁠Adam Torres⁠ interviews ⁠Karen Ho⁠, Founder and CEO of Lumina BioConsulting, about her mission to fast-track therapies for pediatric rare diseases. Drawing on personal experience and deep scientific expertise, Karen explains how cutting-edge biotech and regulatory flexibility are opening new doors for children previously left without options. This interview is part of the Milken Global Conference coverage by Mission Matters. Big thanks to the ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Milken Institute⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ for inviting us to cover the conference. Follow Adam on Instagram at ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://www.instagram.com/askadamtorres/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ for up to date information on book releases and tour schedule. Apply to be a guest on our podcast: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://missionmatters.lpages.co/podcastguest/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Visit our website: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://missionmatters.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠More FREE content from Mission Matters here: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://linktr.ee/missionmattersmedia⁠ Learn more about your ad choices. Visit podcastchoices.com/adchoices

Michelle Andrews built a career inside the pharma machine long before anyone knew what “DTC” meant. She helped launch Rituxan and watched Allegra commercials teach America how to ask for pills by name. Then she landed in the cancer fun house herself, stage 4 breast cancer, and learned exactly how hollow all the “journey” slide decks feel when you're the one circling the drain.We talk about what happens when the insider becomes the customer, why pill organizers and wheat field brochures still piss her off, and how she fired doctors who couldn't handle her will to live. You'll hear about the dawn of pharma advertising, the pre-Google advocacy hustle, and what she wants every brand team to finally admit about patient experience.If you've ever wondered who decided windsurfing was the best way to sell allergy meds—or what happens when you stop caring if you make people uncomfortable—listen up.RELATED LINKSMichelle Andrews on LinkedInTrinity Life Sciences – Strategic AdvisoryJade Magazine – Ticking Time Bombs ArticleNIHCM Foundation – Breast Cancer StoryFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

View From Victoria: The Government changes course on rare disease medication Guest: Vaughn Palmer, Vancouver Sun Columnist Learn more about your ad choices. Visit megaphone.fm/adchoices

Today on Raise the Line, we bring you the unlikely and inspiring story of a woman who was afraid of blood as a child but became an accomplished nurse; who struggled with learning disabilities but became an effective educator; and who, despite lacking business experience or knowledge of graphics, built a successful company that produces visually rich educational materials for nurses and other providers. “I think the theme of my life has been I have struggled with learning, and I didn't want other people to struggle,” says Jennifer Zahourek, RN, the founder and CEO of RekMed which has developed a sequential, interactive learning system that includes illustrated planners, books, and videos used by millions of students and providers. The initial focus was to provide nurses with everything they needed to know from “the basics to the bedside” but RekMed now offers content for medics, respiratory therapists, medical assistants, and veterinarians as well. Driven by her belief in the power of visual learning and her “just freakin' do it” attitude, Jennifer overcame her fear of launching a business and quickly realized just how well nursing had prepared her for the hard work and unpredictability of entrepreneurship. “Nursing teaches you how to just be resilient, to pivot, to delegate, to work on a team and to handle high stress. I think nurses could literally be some of the best entrepreneurs on the planet,” she tells host Lindsey Smith. Tune in to this lively and valuable conversation as Jennifer shares lessons from bootstrapping a publishing company, insights on the evolving landscape of healthcare education, and advice on embracing change in nursing, especially with the expanding role of AI. Mentioned in this episode:RekMed If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

Bob McLay, General Manager of Sobi Canada, gives insights into stewarding rare drug therapies, KOL advocacy and the future of preventative medicine. Get full access to NPC Healthbiz Weekly at healthbiz.substack.com/subscribe

Up to 3,500 FDA staffers received their final walking papers Monday after the U.S. Supreme Court found last week that the government is “likely to succeed” in arguing that its overhaul of HHS is “lawful.” Meanwhile, FDA Commissioner Marty Makary floated policy changes for the agency, including a proposal to lower prescription drug user fees for the next iteration of the program, and one to offer speedier reviews to companies willing to lower the cost of their drugs.  Last week, the regulator opened its cache of complete response letters (CRLs), offering transparency into the rationale behind more than 200 recent rejections for ultimately approved therapies, including those for Eli Lilly's Alzheimer's drug Kisunla and Sarepta's Duchenne muscular dystrophy (DMD) treatment Vyondys 53. The FDA did not, however, release the CRLs for two new rejections: those of therapies from Ultragenyx and Capricor Therapeutics in Sanfilippo syndrome type A and cardiomyopathy associated with DMD, respectively. It was an especially rough week for Ultragenyx, which also, along with partner Mereo BioPharma, released seemingly negative Phase II/III data for their osteogenesis imperfecta therapy.  On a more positive note, two bustling therapeutic spaces continue to see positive data. In obesity, Hengrui Pharma's Kailera Therapeutics–partnered dual GLP-1/GIP receptor agonist elicited 17.7% average weight loss in a pivotal Chinese trial. And the psychedelic therapeutics space is again generating excitement with two recent positive readouts in treatment-resistant depression. BioSpace took a deep dive into the market reaction to these readouts for Compass Pathways and Beckley Psytech and atai Life Sciences, and what exactly investors are looking for in a successful psychedelic therapy.  Finally, we examine the progress of AI biotech unicorns and kick off our series on women in biopharma with profiles on Mayo Venture Partner Audrey Greenberg and the all-female CEO/R&D tandem at Acadia Pharmaceuticals.  

Dr. Anne Marie Morse walks into the studio like a one-woman Jersey Broadway show and leaves behind the best damn TED Talk you've never heard. She's a neurologist, sleep medicine doc, narcolepsy expert, founder of D.A.M.M. Good Sleep, and full-time myth buster in a white coat. We talk about why sleep isn't a luxury, why your mattress does matter, and how melatonin is the new Flintstones vitamin with a marketing budget. We unpack the BS around sleep hygiene, blow up the medical gaslighting around “disorders,” and dig into how a former aspiring butterfly became one of the loudest voices for patient-centered science. Also: naps, kids, burnout, CPAPs, co-sleeping, airport pods, the DeLorean, and Carl Sagan. If you think you're getting by on five hours of sleep and vibes, you're not. This episode will make you want to take a nap—and then call your doctor.RELATED LINKSdammgoodsleep.com: https://www.dammgoodsleep.comLinkedIn: https://www.linkedin.com/in/anne-marie-morse-753b2821/Instagram: https://www.instagram.com/dammgoodsleepDocWire News Author Page: https://www.docwirenews.com/author/anne-marie-morseSleep Review Interview: https://sleepreviewmag.com/practice-management/marketing/word-of-mouth/sleep-advocacy-anne-marie-morse/Geisinger Bio: https://providers.geisinger.org/provider/anne-marie-morse/756868SWHR Profile: https://swhr.org/team/anne-marie-morse-do-faasm/FEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

“Very often, doctors try to suppress what they feel or don't even have the vocabulary to describe their emotions,” says Professor Alicja Galazka of the University of Silesia, an observation based on decades of work with physicians to enhance their emotional intelligence and resilience. Galazka, a psychotherapist, psychologist, lecturer and coach, believes this deficit is rooted in part in a lack of instruction in the internal and external psychological dimensions of being a medical provider. “There is not enough space created in medical school for teaching and training students about how to deal with their own stress and all of the skills connected to building relationships with patients,” she tells host Michael Carrese. Those same skills are also critical to working effectively as a member of a care team, which is an increasingly common arrangement in hospitals and clinics. Galazka employs simulations, dramatic role-playing, mindfulness, Acceptance and Commitment Therapy and other methods in her work with an eye on increasing the emotional agility and sensitivity of her trainees and clients. Tune in to this thoughtful episode of Raise the Line to hear Galazka's ideas on how to reshape medical training, why she is a proponent of narrative medicine, and the merits of embedding psychologists on care teams as a resource for both patients and providers. Mentioned in this episode:University of SilesiaInternational Association of Coaching Institutes If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

Gigi Robinson grew up with Ehlers-Danlos syndrome, a disease that turns your joints into overcooked spaghetti. Instead of letting it sideline her, she built a career out of telling the truth about invisible illness. We talk about what it takes to grow up faster than you should, why chronic illness is the worst unpaid internship, and how she turned her story into a business. You'll hear about her days schlepping to physical therapy before sunrise, documenting the sterile absurdity of waiting rooms, and finding purpose in the mess. Gigi's not interested in pity or polished narratives. She wants you to see what resilience really looks like, even when it's ugly. If you think you know what an influencer does, think again. This conversation will challenge your assumptions about work, health, and what it means to be seen.RELATED LINKSGigi Robinson Website: https://www.gigirobinson.comLinkedIn: https://www.linkedin.com/in/gigirobinsonInstagram: https://www.instagram.com/itsgigirobinsonTikTok: @itsgigirobinsonA Kids Book About Chronic Illness: https://akidsco.com/products/a-kids-book-about-chronic-illnessFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

We have a powerful conversation about dedication, innovation, and impact in the cystic fibrosis community in this podcast. I'm joined by two incredible guests from MVW Nutritionals: Mike Walters and Jason Vandiver.Mike Walters is a true pioneer in pharmaceutical business and innovation, with nearly four decades of experience. He began his career at Johnson & Johnson, where he spent 14 years in leadership roles across sales, marketing, and management development. In 1996, Mike launched his first company to help organizations navigate product commercialization in the U.S. Since then, his work in the CF space has been nothing short of groundbreaking. He founded and led Source CF, MVW Nutritionals, and CF Global Services, playing a key role in bringing many standard-of-care treatments to market. A Vanderbilt graduate with degrees in Biochemistry and Chemistry, Mike brings both scientific insight and a deep commitment to rare disease care.Joining him is Jason Vandiver, Chief Operating Officer of MVW Nutritionals. A proud Alabama native, Jason earned his degree in Finance from the University of Alabama at Birmingham and spent 16 years in banking before joining MVW during a time of rapid growth. He now helps lead the multimillion-dollar, family-owned company that's become a global leader in nutritional products for patients with CF and non-CF EPI.In this episode, Mike and Jason share their personal stories, the importance of strong partnerships, and the real challenges patients and families are facing—especially as funding landscapes continue to shift. We explore the power of empathy, the strength of community support, and why transparency in nonprofit operations matters now more than ever.It's a conversation about hope, action, and what's ahead as we work together to support those who need us most.   Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

Show notes at pharmacyjoe.com/episode1040. In this episode, I'll discuss a resource for taking care of patients with a rare disease. The post 1040 (fixed): Every Hospital Pharmacist Should Know About This Rare Disease Resource appeared first on Pharmacy Joe.

Episode Description:If you've ever wondered what happens when a Bronx-born pediatric nurse with stage 4 colon cancer survives, raises a kid, becomes a policy shark, and fights like hell for the ignored, meet Vanessa Ghigliotty. She's not inspirational. She's a bulldozer. We go way back—like pre-Stupid Cancer back—when there was no “young adult cancer movement,” just a handful of pissed-off survivors building something out of nothing. This episode is personal. Vanessa and I built the plane while flying it. She fought to be heard, showed up in chemo dragging her kid to IEP meetings, and never stopped screaming for the rest of us to get what we needed. We talk war stories, progress, side-eyeing advocacy fads, TikTok activism, gatekeeping, policy wins, and why being loud is still necessary. And yeah—she's a damn good mom. Probably a better one than you. You'll laugh. You'll cry. You'll want to scream into a pillow. Come for the nostalgia. Stay for the righteous anger and iced coffee.RELATED LINKSVanessa on LinkedInColorectal Cancer Alliance: Vanessa's StoryZenOnco Interview with VanessaFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

It has been 25 years since Bill Clinton announced one of humanity's most important scientific achievements: the first draft of the human genome. At the time, there was a great deal of excitement about the benefits that this new knowledge would bring, with predictions about curing genetic diseases and even cancer. To find out which of them came to pass, and what could be in store over the next two-and-a-half decades, Madeleine Finlay is joined by science editor Ian Sample, and hears from Prof Matthew Hurles, director of the Wellcome Sanger Institute. Help support our independent journalism at theguardian.com/sciencepod

"Older adults have this special clarity about who they are and what they want, which is incredibly inspiring," says Dr. Julia Hiner, explaining, in part, why she loves her work as a geriatrician in Houston, Texas. She also enjoys the challenge of the medical complexity these patients present and the opportunity it creates to see the patient as a whole person. In fact, as you'll hear in this upbeat conversation with Raise the Line host Lindsey Smith, there's almost nothing about geriatrics that Dr. Hiner does not enjoy, which explains her passion for teaching the subject at McGovern Medical School at the University of Texas Health Science Center in Houston and trying to convince more students to pursue it as their specialty.  The need is great, given that there are only 8,000 geriatricians in the US despite a rapidly growing senior population. Tune in to learn why Dr. Hiner thinks clinicians avoid the field and the steps that can be taken to improve the situation, including requiring courses in geriatrics. You'll also learn about the importance of capacity assessments, the troubling, and under-reported, problem of elder mistreatment, ageism among health professionals and much more in this super informative episode. Mentioned in this episode:University of Texas Health Science Center at Houston McGovern Medical School  If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

At just 19 years old, she lost her mom to Alpha-1 Antitrypsin Deficiency—a rare genetic disorder that went undiagnosed until it was too late. In this episode, she shares what it was like to watch her mom suffer without answers, and how the grief of that experience changed everything: her family, her future, and her sense of self. She and Heather talk about the ripple effects of rare disease, the deep frustration of medical uncertainty, and how she's turned her pain into purpose as a nurse. This conversation is a powerful reminder of how devastating it can be when rare disease goes unseen—and how healing begins with telling the truth. Find Heather and Jake's Help from Heaven: ❤️ APOY Instagram: https://www.instagram.com/aplaceofyespodcast/ ❤️ Heather's Instagram: https://www.instagram.com/heathersstraughter/ ❤️ Jake's Help from Heaven: http://jakeshelpfromheaven.org/ ❤️ Jake's Help from Heaven IG: https://www.instagram.com/jakeshelp/ ❤️ Facebook: https://www.facebook.com/jakeshelpfromheaven ❤️ Our YouTube Channel: https://www.youtube.com/@APlaceofYesPodcast Learn more about your ad choices. Visit megaphone.fm/adchoices

In this Mission Matters Milken Conference Series episode, ⁠Adam Torres⁠ interviews ⁠Ana Rita Moreira⁠, Executive Director of v-ATPase Alliance. Ana Rita shares how a rare diagnosis for her son led her to found a nonprofit that collects critical data to drive research for ultra-rare genetic conditions. Through grassroots collaboration and strategic advocacy, her organization is filling the scientific gap where few others will. Follow Adam on Instagram at ⁠https://www.instagram.com/askadamtorres/⁠ for up to date information on book releases and tour schedule. Apply to be a guest on our podcast: ⁠https://missionmatters.lpages.co/podcastguest/⁠ Visit our website: ⁠https://missionmatters.com/⁠ More FREE content from Mission Matters here: ⁠https://linktr.ee/missionmattersmedia⁠ Learn more about your ad choices. Visit podcastchoices.com/adchoices

Risa Arin doesn't just talk about health literacy. She built the damn platform. As founder and CEO of XpertPatient.com (yes, expert with no E), Risa's taking a wrecking ball to how cancer education is delivered. A Cornell alum, cancer caregiver, and ex-agency insider who once sold Doritos to teens, she now applies that same marketing muscle to helping patients actually understand the garbage fire that is our healthcare system. We talk about why she left the “complacent social safety” of agency life, how her mom unknowingly used her own site during treatment, what it's like to pitch cancer education after someone pitches warm cookies, and why healthcare should come with a map, a translator, and a refund policy. Risa brings data, chutzpah, and Murphy Brown energy to the conversation—and you'll leave smarter, angrier, and maybe even a little more hopeful.RELATED LINKS• XpertPatient.com• Risa Arin on LinkedIn• XpertPatient & Antidote Partnership• XpertPatient Featured on KTLA• 2024 Health Award BioFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Check out the TIES Sales Showdown at www.tx.ag/TIESVisit The Sales Lab at https://thesaleslab.org and check out all our guests' recommended readings at https://thesaleslab.org/reading-listTo listen to The Sales Lab Podcast on your favorite apps, visit https://thesaleslab.simplecast.com/ and select your preferred method of listening.Connect with us on Facebook at https://www.facebook.com/saleslabpodcastConnect with us on Linkedin at https://www.linkedin.com/company/thesaleslabSubscribe to The Sales Lab channel on YouTube at  https://www.youtube.com/channel/UCp703YWbD3-KO73NXUTBI-Q 

Dr. Jamie Wells is back—and this time, she brought a book. We cover everything from biomedical design screwups to the glorified billing software known as the EHR. Jamie's new book, A Clinical Lens on Pediatric Engineering, is a masterclass in what happens when you stop treating kids like small, drunk adults and start designing medicine around actual human factors. We talk about AI in pediatric radiology, why drug repurposing might save lives faster than biotech IPOs, and the absurdity of thinking one-size-fits-all in healthcare still works.Jamie's a former physician, a health policy disruptor, a bioethicist, an MIT director, and a recovering adjunct professor. She's also a unicorn. We dig into the wonk, throw shade at bad design, and channel our inner Lisa Simpsons. This one's for anyone who ever wondered why kids' hospitals feel like hell and why “make it taste like bubblegum” might be the most important clinical innovation of all time. You'll laugh, you'll learn, and you might get angry enough to fix something.RELATED LINKSJamie Wells on LinkedInBook: A Clinical Lens on Pediatric Engineering (Amazon)Book on SpringerDrexel BioMed ProfileGlobal Blockchain Business CouncilJamie's HuffPost ArticlesFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point There'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. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich's Ataxia Kyle was diagnosed with Friedreich's Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben.  Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. TUNE INTO THE ONCE UPON A GENE PODCAST ⁠Spotify⁠ ⁠https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7⁠ ⁠Apple Podcasts⁠ ⁠https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347⁠ ⁠Stitcher⁠ ⁠https://www.stitcher.com/podcast/once-upon-a-gene⁠ ⁠Overcast⁠ ⁠https://overcast.fm/itunes1485249347/once-upon-a-gene⁠ CONNECT WITH EFFIE PARKS ⁠Website⁠ ⁠https://effieparks.com/⁠ ⁠Twitter⁠ ⁠https://twitter.com/OnceUponAGene⁠ ⁠Instagram⁠ ⁠https://www.instagram.com/onceuponagene.podcast/?hl=en⁠ ⁠Built Ford Tough Facebook Group⁠ ⁠https://www.facebook.com/groups/1877643259173346/

The Hidden Lightness with Jimmy Hinton – Hudson's pediatrician initially dismissed the signs that Twyla spotted. But his mom, listening to the voice of someone who knew her child day in and day out, pressed further. That decision, sparked by a teacher's concern, opened the door to an early diagnosis of adrenoleukodystrophy (ALD) — a rare and...