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Shannon Burkett has lived about six lives. Broadway actor. SNL alum. Nurse. Filmmaker. Advocate. Cancer survivor. And the kind of person who makes you question what you've done with your day. She wrote and produced My Vagina—the stop-motion musical kind, not the cry-for-help kind—and built a global movement after her son was poisoned by lead dust in their New York apartment. Out of that came LEAD: How This Story Ends Is Up to Us, a documentary born from rage, science, and maternal defiance. We talked about everything from The Goonies to Patrick Stewart to the quiet rage of parenting in a country that treats public health like a hobby. This episode is about art, anger, resilience, and what happens when an unstoppable theater nerd turned science geek Jersey girl collides with an immovable healthcare system.RELATED LINKSShannon Burkett Official SiteLEAD: How This Story Ends Is Up to UsEnd Lead PoisoningLinkedIn: Shannon BurkettBroadwayWorld ProfileFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Our guest this week is Hugh Hempel, a technology industry veteran turned health care entrepreneur and father of identical twin daughters with Niemann Pick Type C.Hugh and his wife Chris, have been married for 25 years and are the proud parents of identical twin daughters Addison & Cassidy. The girls were born in January 2004 and were both diagnosed with Niemann Pick Type C, a type of childhood ALS, a very rare neurogenerative disease. Despite heroic efforts to find a cure and treatments, very sadly the twins passed away in 2019 at age 15.After a successful tech career that included working at: IBM, Apple and Netscape, to name a few, and as a result of the twins' diagnosis, Hugh & Chris became outspoken advocates for rare disease research. They also created the Addi & Cassidy Fund, a resource for families impacted by Niemann Pick, Cyclodextrin, and a myriad of stories, and resources for families impacted by a wide range of rare diseases. Hugh has also served in a wide range of leadership positions, including Solutions Therapuetics, Sparkpr, Parent Advocist, N=1 Collaboration and Strainz. In January 2015 Hugh gave a TEDx Talk presentation entitled: Why I Changed My Mind About Medical Cannabis, coincidentally on Addi & Cassidy's 11th birthday. We'll hear about the Hempel family and about Hugh and Chris' quest to find a cure and treatments for rare and ultra rare diseases, all on this episode of the SFN Dad To Dad Podcast. This is the final sintallment of this two part interview. Show Links Phone - (775) 338-4844Email – Hugh@Hempelfamily.com LinkedIn – https://www.linkedin.com/in/hughhempel/?skipRedirect=true Website – N=1 Collaboration – https://www.n1collaborative.org/Website – Addi & Cassie Fund - https://addiandcassi.com/TEDx Talk – Why I Changed My Mind About Medical Cannabis (January2015) - https://www.youtube.com/watch?v=3N8QMeIsX2c&t=1sDr. Sanjay Gupta CNN story (11.22.14) -https://vimeo.com/420572177?fl=pl&fe=vlMayo Clinic NPT1 - https://www.mayoclinic.org/diseases-conditions/niemann-pick/symptoms-causes/syc-20355887MIPLYFFA Website - https://miplyffa.com/Special Fathers Network –SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 800+ SFN Mentor Fathers, who are raising kids with special needs, have said: “I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through.”SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA/videosPlease support the SFN. Click here to donate: https://21stcenturydads.org/donate/Special Fathers Network: https://21stcenturydads.org/ SFN Mastermind Group - https://21stcenturydads.org/sfn-mastermind-group/Special thanks to SFN Mentor Father, SFN Mastermind Group dad and 21CD board member Shane Madden for creating the SFN jingle on the front and back end of the podcast..
We have a special episode of Raise the Line on tap today featuring the debut of host Dr. Parsa Mohri, who will now be leading our NextGen Journeys series that highlights the fresh perspectives of learners and early career healthcare professionals around the world on education, medicine, and the future of care. Parsa was himself a NextGen guest in 2024 as a medical student at Acibadem University in Turkey. He's now a general physician working in the Adult Palliative Care Department at Şişli Etfal Research and Training Hospital in Istanbul. Luckily for us, he's also continuing in his role as a Regional Lead for the Osmosis Health Leadership Initiative (OHLI). For his first guest, Parsa reached out to a former colleague in the Osmosis family, Negeen Farsio, who worked with him as a member of OHLI's predecessor organization, the Osmosis Medical Education Fellowship. Negeen is now a graduate student in medical anthropology at Brunel University of London, a degree which she hopes will inform her future work as a clinician. “Medical anthropology is a field that looks at healthcare systems and how human culture shapes the way we view different illnesses, diseases, and treatments and helps you to see the full picture of each patient.” You are sure to enjoy this heartfelt conversation on how Negeen's lived experience as a patient and caregiver have shaped her commitment to mental health and patient advocacy, and how she hopes to marry humanity with medicine in a world that yearns to heal. 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/podcast
When a toddler with a neurodevelopmental delay, poor muscle tone, and no hair came to Caleb Bupp's genetics clinic, it led not only to the discovery of a new, ultra-rare disease, but the identification of a potential treatment in DFMO, a drug long used to treat a chronic parasitic disease. Bupp is now collaborating with others including Every Cure, a nonprofit biotech working to expand the use of repurposed drugs. While a number of patients have begun using the drug, the U.S. Food and Drug Administration has urged the group to move forward with a clinical trial. We spoke to Bupp, pediatric geneticist at Corewell Health Helen DeVos Children's Hospital in Grand Rapids, Michigan, about the discovery of the condition known as Bachmann-Bupp syndrome, how he and his colleagues identified a potential treatment in an existing drug, and the path forward.
Michael Kramer was 19 when cancer ambushed his life. He went from surfing Florida beaches to chemo, radiation, and a bone marrow transplant that left him alive but carrying a chronic disease. He had necrosis in his knees and elbows, lost his ability to surf for years, and found himself stuck in hospitals instead of the ocean. Yet he adapted. Michael picked up a guitar, built Lego sets, led support groups, and started sharing his story on Instagram and TikTok.We talk about masculinity, identity, and what happens when the thing that defines you gets stripped away. He opens up about dating in Miami, freezing sperm at a children's hospital, awkward Uber-for-sperm moments with his brother, and how meditation became survival. Michael lost his father to cancer when he was a teen, and that grief shaped how he lives and advocates today. He is funny, grounded, and honest about the realities of survivorship in your twenties. This episode shows what resilience looks like when you refuse to walk it off and choose to speak it out loud instead.RELATED LINKSMichael Kramer on InstagramMichael Kramer on TikTokMichael and Mom Inspire on YouTubeAshlee Cramer's BookUniversity of Miami Sylvester Comprehensive Cancer CenterStupid Cancer FEEDBACKLike this episode? Rate and review Walk It Off 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.
Synopsis: At a moment when biotech is rethinking growth, innovation, and patient impact, Alok Tayi sits down with Christophe Bourdon, Chief Executive Officer of LEO Pharma, to explore what it truly means to build a purpose-driven, commercial-stage biotech. Drawing on three decades across Sanofi, Alexion, Amgen, and now LEO Pharma, Christophe shares a clear conviction: innovation only matters when it meaningfully changes patients' lives. At LEO Pharma, that belief is shaping a focused strategy in medical dermatology, where over one-third of the global population is affected and thousands of skin diseases still lack approved treatments. The conversation spans LEO Pharma's evolution into a nearly $2B growth company, the rise of first-in-class therapies in atopic dermatitis and chronic hand eczema, and why formulation science, rare disease execution, and “white-glove” patient support are essential to changing standards of care. Christophe also offers sharp perspectives on AI-enabled scouting, the accelerating innovation coming out of China, and why biotech must resist “me-too” products in favor of true clinical breakthroughs. From JPMorgan Healthcare Conference insights to deeply human stories of rare disease care at 4 a.m., this episode is a masterclass in disciplined growth, differentiated innovation, and patient-first leadership. Biography: Christophe joined LEO Pharma as CEO in April 2022 and has since led the company through a strategic transformation, sharpening its focus on innovation and external partnerships. Under his leadership, LEO Pharma has accelerated growth in key markets, advanced its pipeline, and strengthened its culture, reinforcing its position as a global leader in medical dermatology. Before joining LEO Pharma, he served as CEO of Orphazyme A/S. Earlier in his career, he held senior leadership roles at Amgen, including Senior Vice President and General Manager for the U.S. Oncology Business, and at Alexion as Senior Vice President, EMEAC, overseeing the commercial development of ultra-orphan therapies across 40 countries. Christophe holds an MBA from the International Institute for Management Development (IMD) in Lausanne, Switzerland, and a B.A. from the Institut Supérieur de Gestion (ISG) in Paris, France.
When Patricia Weltin's daughters were diagnosed with Ehlers-Danlos Syndrome after years of uncertainty, she turned her frustration into a global movement. In this episode of Sounds of Science, Patricia shares the story behind Beyond the Diagnosis, a powerful art and advocacy initiative that uses portraiture to humanize rare diseases and inspire empathy in medical professionals, students, and communities around the world. From medical schools to courthouses and even Parisian galleries, the traveling exhibit is reshaping how we see children with rare diseases—not as diagnoses, but as vibrant individuals with stories worth telling. Tune in to hear how Patricia's mission is bridging the gap between science and compassion, and how you can help carry it forward.Show NotesFrom Mystery to Medicine: The Science Behind a Mother's Search | PodcastTaking a Customized and Collaborative Approach to Therapeutic Development | PodcastRare Disease Research for Drug Development | Charles RiverRare Disease | Charles RiverDiscovery | Charles RiverBeyond The Diagnosis
Hello Everyone! I hope your holidays have been well! here is a new compilation for you all, I hope you enjoy it! Story list: In The Land Of Black And White DECAY If you're armed and at the Glenmont metro, please shoot me My patient spent eight million years under a bench at the Glenmont metro Charles Bonnet Syndrome I Have A Condition that makes me hunt people My Doctor Told Me To Keep a Journal Of My Symptoms Every Year on My Birthday I have to Die Hosted by Simplecast, an AdsWizz company. See https://pcm.adswizz.com for information about our collection and use of personal data for advertising.
Hello Everyone! I hope your holidays have been well! here is a new compilation for you all, I hope you enjoy it! Story list: In The Land Of Black And White DECAY If you're armed and at the Glenmont metro, please shoot me My patient spent eight million years under a bench at the Glenmont metro Charles Bonnet Syndrome I Have A Condition that makes me hunt people My Doctor Told Me To Keep a Journal Of My Symptoms Every Year on My Birthday I have to Die Hosted by Simplecast, an AdsWizz company. See https://pcm.adswizz.com for information about our collection and use of personal data for advertising.
Fan Mail: Tell Wendy how you're saying yes to yourself!Say YES to a Space to Dream Solo Retreat at the Phineas Wright House. Learn more and save your date here. Explore other opportunities to say YES to yourself here. Welcome to the Say YES to Yourself! Podcast—the show for midlife women, empty nesters, and anyone navigating life after divorce, burnout, or big transitions. If you're ready to shed cultural expectations, reconnect with your true self, and put your joy first—you're in the right place.In this episode, Wendy is joined by Ashley Hamic, rare disease mom and founder of Wishwear Accessories. What started as a wheelchair blanket for a friend has grown into a joyful, functional brand, proving that when you say yes to yourself, beautiful things unfold.They explore:Why joy needs to be planned, engaged with, and celebratedHow rare disease families find meaning in the smallest glimmersThe power of setting intentional rhythms in your relationshipThis is a conversation about embracing chaos, leaning into what you love, and discovering that if you set the intention for joy, it will come to you. Press play and discover how contrast can deepen your capacity for joy.Connect with Ashley:Instagram @wishwearaccessoriesFacebookLinkedInTikTokWishWearAccessories.comReferenced in this Episode:The Kind of Leadership That Sparks Innovation | Elizabeth BieniekFrom Life Sentence to Second Chances: A Story of Freedom & Redemption | Judy HendersonOnce Upon a Gene PodcastThe Plated Prisoner Series________________________________________________________________________________________ Connect with Wendy: LinkedinInstagram: @phineaswrighthouseFacebook: Phineas Wright House Website: Phineas Wright House PWH Farm StaysPWH Curated Experience and Travel Interested in being a guest on the show? Send your pitch to podcast@phineaswrighthouse.com Podcast Production By Shannon Warner of Resonant Collective Want to start your own podcast? Let's chat! If this episode resonated, follow Say YES to Yourself! and leave a 5-star review. It helps more women in midlife discover the tools, stories, and community that make saying YES not only possible, but powerful.
Our guest this week Hugh Hempel of Denver, CO, a technology industry veteran turned health care entrepreneur and father of identical twin daughters with Niemann Pick Type C.Hugh and his wife Chris, have been married for 25 years and are the proud parents of identical twin daughters Addison & Cassidy. The girls were born in January 2004 and were both diagnosed with Niemann Pick Type C, a type of childhood ALS, a very rare neurogenerative disease. Despite heroic efforts to find a cure and treatments, very sadly the twins passed away in 2019 at age 15.After a successful tech career that included working at: IBM, Apple and Netscape to name a few, and as a result of the twins' diagnosis, Hugh & Chris became outspoken advocates for rare disease research. They also created the Addi & Cassidy Fund, a resource for families impacted by Niemann Pick, Cyclodextrin, and a myriad of stories, and resources for families impacted by a wide range of rare diseases. Hugh has also served in a wide range of leadership positions, including Solutions Therapuetics, Sparkpr, Parent Advocist, N=1 Collaboration and Strainz. In January 2015 Hugh gave a TEDx Talk presentation entitled: Why I Changed My Mind About Medical Cannabis, coincidentally on Addi & Cassidy's 11th birthday. We'll hear about the Hempel family and about Hugh and Chris' quest to find a cure and treatments for rare and ultra rare diseases, all on this episode of the SFN Dad To Dad Podcast. This is Part 1 of a two part interview. Show Links Phone - (775) 338-4844Email – Hugh@Hempelfamily.com LinkedIn – https://www.linkedin.com/in/hughhempel/?skipRedirect=true Website – N=1 Collaboration – https://www.n1collaborative.org/Website – Addi & Cassie Fund - https://addiandcassi.com/TEDx Talk – Why I Changed My Mind About Medical Cannabis (January2015) - https://www.youtube.com/watch?v=3N8QMeIsX2c&t=1sDr. Sanjay Gupta CNN story (11.22.14) -https://vimeo.com/420572177?fl=pl&fe=vlMayo Clinic NPT1 - https://www.mayoclinic.org/diseases-conditions/niemann-pick/symptoms-causes/syc-20355887MIPLYFFA Website - https://miplyffa.com/Special Fathers Network –SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 800+ SFN Mentor Fathers, who are raising kids with special needs, have said: “I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through.”SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA/videosPlease support the SFN. Click here to donate: https://21stcenturydads.org/donate/Special Fathers Network: https://21stcenturydads.org/ SFN Mastermind Group - https://21stcenturydads.org/sfn-mastermind-group/Special thanks to SFN Mentor Father, SFN Mastermind Group dad and 21CD board member Shane Madden for creating the SFN jingle on the front and back end of the podcast..
New research is transforming the outlook for cervical and uterine cancers -- two of the most serious gynecologic malignancies worldwide – and we'll be hearing from one of the people shaping that progress, Dr. Mary McCormack, on this episode of Raise the Line. From her perch as the senior clinical oncologist for gynecological cancer at University College London Hospitals, Dr. McCormack has been a driving force in clinical research in the field, most notably as leader of the influential INTERLACE study, which changed global practice in the treatment of locally advanced cervical cancer, a key reason she was named to Time Magazine's 2025 list of the 100 most influential people in health. “In general, the protocol has been well received and it was adopted into the National Comprehensive Cancer Network guidelines which is a really big deal because lots of centers, particularly in South and Central America and Southeast Asia, follow the NCCN's lead.”In this conversation with host Michael Carrese, you'll learn about how Dr. McCormack overcame recruitment and funding challenges, the need for greater access to and affordability of treatments, and what lies ahead for women's cancer treatment worldwide. Mentioned in this episode:INTERLACE Cervical Cancer Trial 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/podcast
Daniel Garza had momentum. Acting roles, directing gigs, national tours lined up. Then anal cancer stopped everything. Radiation wrecked his body, stripped him of control, and left him in diapers, staring down despair. His partner, Christian Ramirez, carried him through the darkest nights, changed his wounds, fought hospitals, and paid the price with his own health. Christian still lives with permanent damage from caregiving, but he stayed anyway.Together they talk with me about masculinity, sex, shame, friendship, and survival. They describe the friendships that vanished, the laughter that kept them alive, and the brutal reality of caregiving no one prepares you for. We get into survivor guilt, PTSD, and why even rocks need rocks. Daniel is now an actor, director, and comedian living with HIV. Christian continues to tell the unfiltered truth about what it takes to be a caregiver and stay whole. This episode gives voice to both sides of the cancer experience, the survivor and the one who stands guard. RELATED LINKSDaniel Garza IMDbDaniel Garza on InstagramDaniel Garza on FacebookChristian Ramirez on LinkedInLilmesican Productions Inc (Daniel & Christian)Stupid Cancer FEEDBACKLike this episode? Rate and review Walk It Off 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.
A black leather jacket, black hoop earrings, black T-shirt and pants. You may visualize a rock star, and Colin Hemez is a rock star of sorts, but he actually works in a white coat, a doctors coat. Yes, he's a scientist.Dr. Hemez brings a remarkable blend of science, creativity, and purpose to the fight against cystic fibrosis. Colin was born in France and raised in the high-desert town of Los Alamos, New Mexico, an environment steeped in scientific discovery. Summers interning at Los Alamos National Laboratory sparked his early fascination with how innovation can change lives.At Yale, he explored the intersection of engineering and art, studying biomedical engineering alongside art history to understand both the precision of science and the elegance of design. But it was a research trip to the Arctic University of Norway that set his path in motion. While building mathematical models of antibiotic resistance, a challenge many people with cystic fibrosis face, Colin discovered his true calling.Today, he's a PhD student in Dr. David R. Liu's renowned laboratory at Harvard, working at the cutting edge of gene editing for cystic fibrosis. Every day, Colin is pushing boundaries, imagining a future where science doesn't just treat CF but has the power to rewrite its story.We had to so much fun talking in this podcast. Born in France we talk about Colin's wonderful siblings and parents. They're all incredibly smart and making a huge difference in our world.Outside the lab, Colin reflected on the grounding role of art, music, and outdoor exploration, coping mechanisms that keep him connected to the world he's trying to impact. Looking ahead, he's both hopeful and driven: gene editing for cystic fibrosis is no longer a distant dream but a rapidly approaching reality with global implications. His aspirations are bold, but so is the science.In his view, the future of CF research depends on collaboration, imagination, and staying rooted in why the work matters: to bring healthier, longer lives within reach for every person living with this disease. We sure love his passion for science. You won't want to miss this Amazing Podcast. To watch Colin's PhD https://drive.google.com/file/d/1HizIGiqGdKDgIifT7HF9t0UDVgv0tOKE/view 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
Medical oncologist, geriatrician, and physician scientist GJ van Londen and Chief of Genetic and Genomic Medicine at the University of Pittsburgh School of Medicine Gerald Vockley discuss the article "FDA delays could end vital treatment for rare disease patients." GJ and Gerald explore the complex regulatory impasse where the U.S. Food and Drug Administration denied standard approval for elamipretide despite a positive advisory committee vote, creating a financial crisis that threatens to cut off supply for everyone. GJ shares his personal journey from treating cancer to living with primary mitochondrial myopathy, while the conversation emphasizes the critical need for the agency to use the flexibility granted by the Orphan Drug Act to save a treatment that has already proven its worth. Join us to understand the life-or-death stakes hidden behind administrative decisions. This episode is presented by Scholar Advising, a fee-only financial advising firm specializing in providing advice for DIY investors. If you want clear, actionable strategies and confidence that your financial decisions are built on objective advice without AUM fees or commissions, Scholar is designed for you. Physicians often navigate complex compensation structures, including W-2 income, 1099 work, production bonuses, and practice ownership. Scholar's highly credentialed advisors guide high-earners through decisions like optimizing investments for long-term tax efficiency and expert strategies for financial independence. Every recommendation is tailored to the financial realities physicians face. VISIT SPONSOR → https://scholaradvising.com/kevinmd SUBSCRIBE TO THE PODCAST → https://www.kevinmd.com/podcast RECOMMENDED BY KEVINMD → https://www.kevinmd.com/recommended
Pulitzer Prize-winning NYTimes Opinion columnist Tom Friedman shares his perspective on the United States' indefinite involvement in Venezuela. He warns that without a pathway toward functioning democracy, the country's “mafia leadership” may remain in place. President Trump is speaking out against defense company stock dividends and buybacks. Plus, Becky Quick shares her personal connection to CNBC's newest initiative, CNBC Cures. In a conversation with former FDA Commissioner Dr. Scott Gottlieb, she discusses the scale of rare diseases and the regulatory hurdles that impact treatments for diagnoses like that of her own daughter, Kaylie. Join us in advancing awareness and understanding of rare diseases. Listen to The Path with Becky Quick, and visit CNBC.com/Cures to access clips, resources, or to sign up for our weekly newsletter. Tom Friedman - 13:05Dr. Scott Gottlieb - 26:06 In this episode:Becky Quick, @BeckyQuickJoe Kernen, @JoeSquawkAndrew Ross Sorkin, @andrewrsorkinKatie Kramer, @Kramer_Katie Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.
It's the story Becky Quick never thought she would tell. Her own.As a mom to a child with a rare genetic disease, Squawk Box co-host Becky Quick dove into the hidden world of the many ways biological chance can change our lives. Thirty million Americans have a rare disease, which impact small numbers of patients. Two-thirds of those thirty million are children; 95% of rare diseases don't have an FDA-approved treatment. But despite those eye-popping numbers, millions of people continue to suffer from diseases that often go overlooked by the broader healthcare industry. Small patient populations mean drug companies and investors aren't willing to invest in the space, and outdated regulatory frameworks make the process of developing lifesaving treatments too slow for the families that need them.Becky and her husband Matt Quayle share the journey of their 9-year old daughter Kaylie, who has a rare genetic condition called SYNGAP-1. Over the next several episodes of The Path, Becky will highlight the unique challenges faced by millions of Americans, put a spotlight on the bottlenecks slowing progress in the rare disease space, and talk with stakeholders who have the power to bring about change.Join us in advancing awareness and understanding of rare diseases. Visit CNBC.com/Cures to access clips, resources, or to sign up for our weekly newsletter. Follow Becky Quick on X: @BeckyQuickPlease share your thoughts or rare disease story in the comments, and join us on The Path. Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.
“The world is a very volatile place, with currently 110 conflicts globally, and yet healthcare staff in the hospitals, even here in London, are not prepared to be the only clinician who can help in a crisis or hostile setting,” says Dr. David Gough, CEO of the David Nott Foundation, which equips providers with the skills and confidence needed to function in war and other extraordinary situations. A former British Army doctor injured in Afghanistan, Gough brings lived experience as well as a background in tech to his current role at the Foundation, which itself is anchored in decades of field work amassed by its namesake, a renowned war surgeon. As Dr. Gough points out to host Lindsey Smith, the cause could be helped by augmenting medical school curricula, but in the meantime, the Foundation is filling the knowledge gap by using prosthetics, virtual reality simulations and cadavers to train a broad swath of health workers including surgeons, anesthetists, and obstetricians. Tune in to this important Raise the Line conversation as Dr. Gough reflects on the strengths and weaknesses of NGOs in doing this work, his plans to expand the Foundation's footprint in the US, and the gratifying feedback he's received from trainees now operating on the frontlines in Ukraine and elsewhere. Mentioned in this episode:David Nott Foundation 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/podcast
Robb experienced extreme fatigue, weakness, and dangerous bleeding episodes due to his condition, which required him to take up to 16 different medications daily including high-dose steroids and undergo multiple blood transfusions.Medical treatments included experimental procedures and a splenectomy, but doctors eventually told Robb his options were running out and suggested either an expensive experimental drug costing $600 per week or radiation therapy.A young man from Robb's church suggested medical cannabis as a treatment option, which initially angered Robb who questioned how marijuana could help when scientists and doctors couldn't determine what was wrong with him.Research into cannabis led Robb to discover Rick Simpson's story, Dr. Rafael's work from Israel, and most importantly US Patent 6630507B1 which lists cannabinoids as antioxidants and neuroprotectants for autoimmune diseases.After the splenectomy failed to improve his condition, Robb obtained his medical cannabis certification in Michigan in 2008 and purchased his first gram of Rick Simpson oil for $80 from a compassion club.Initial dosing began with tiny amounts using a toothpick to extract small portions of the oil throughout the day, as Robb considered himself a lightweight when it came to THC effects.Lifestyle changes accompanied the cannabis treatment including adopting an organic diet, eliminating processed foods, and studying the immune system to understand how nutrition affects overall health.Within one week of starting cannabis oil treatment and detoxing from prescription medications, Robb returned to work after being unable to work for over a year and a half.Robb became a licensed caregiver in Michigan, growing cannabis for five patients and eventually operating a 24/7 drive-through dispensary in 2016 with an on-site MD for patient certifications.Partnership with Dr. Calasperius beginning in 2020 created a comprehensive treatment approach combining traditional medical examinations with customized cannabis formulations based on patient needs and tolerance levels.Success story involved treating a six-month-old baby named Anastasia who was experiencing 100 seizures daily, using only CBD, CBG, and CBN without THC to eliminate her need for toxic narcotics.Frustration remains with public misconceptions about cannabis despite extensive patent evidence and 17 years of safe processing and provision in Michigan without any lawsuits or liability cases.Educational efforts continue to promote cannabis in all forms including hemp hearts for nutrition, emphasizing that the plant can provide food, housing, clothing, energy, and medicine while encouraging people to think independently about their health.Current operations focus on community wellness through the website communitywellness.life, offering various cannabis products including infused honey from a third-generation wildflower honey farm. Visit our website: CannabisHealthRadio.comFind high-quality cannabis and CBD + get free consultations at MyFitLife.net/cannabishealthDiscover products and get expert advice from Swan ApothecaryFollow us on Facebook.Follow us on Instagram.Find us on Rumble.Keep your privacy! Buy NixT420 Odor Remover Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.
Trevor Maxwell lived the archetype of masculinity in rural Maine. Big, strong, splitting wood, raising kids, and carrying the load. Then cancer ripped that script apart. In 2018 he was bedridden, emasculated, ashamed, and convinced his family would be better off without him. His wife refused to let him disappear. That moment forced Trevor to face his depression, get help, and rebuild himself. Out of that came Man Up To Cancer, now the largest community for men with cancer, a place where men stop pretending they are bulletproof and start being honest with each other.Eric Charsky joins the conversation. A veteran with five cancers, forty-nine surgeries, and the scars to prove it, Eric lays out what happens when the military's invincible mindset collides with mortality. Together, we talk masculinity, vulnerability, sex, shame, and survival. This episode is blunt, raw, and overdue.RELATED LINKSMan Up To CancerTrevor Maxwell on LinkedInDempsey CenterEric Charsky on LinkedInStupid Cancer FEEDBACKLike this episode? Rate and review Walk It Off 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.
It Happened To Me: A Rare Disease and Medical Challenges Podcast
Happy New Year listeners! We hope you enjoyed the holidays and are off to a wonderful start of 2026! The last episode we released featured our Executive Producer Kira Dineen putting on her genetic counseling hat to explore how genetic counselors can help those in the rare disease community. With how much you all enjoyed that “blast from the past” episode, we thought we would bring you one more before our new episodes of 2026 kick off. So we are continuing on the topic of rare diseases genetics, and revisiting our episode with Amy Patterson, who is a genetic counselor as well. In this conversation she shares with Cathy and Beth about genetic screening and testing available for rare diseases including her speciality of skeletal dysplasia. Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasias. Amy Patterson (she/her) is a licensed pediatric and adult genetic counselor in the Johns Hopkins Department of Genetic Medicine. She primarily works with patients in the Greenberg Center for Skeletal Dysplasias as well as the General Genetics clinic. Especially in the skeletal dysplasia space, Amy works to promote a holistic patient experience, including psychosocial counseling, connection with patient advocacy groups, informed consent, genetic testing and interpretation of results, coordination of care, and discussion of research options. Amy was a LEND Fellow and graduated from the Boston University Genetic Counseling program in 2021. She has focused much of her research and clinical work on the intersection of rare conditions, disability, and patient advocacy. Amy initially started advocating in the rare disease space due to her best friend's sibling's rare genetic disorder, Congenital Hyperinsulinism. We actually interview their mother on Episode 37 of It Happened To Me. As a high schooler, Amy started educating their peers and community about rare disease on Rare Disease Day every year. After moving to Boston, she started volunteering at a Community Engagement Liaison for the Rare Action Network (RAN), the advocacy branch of NORD, then became the RAN Massachusetts State Ambassador. Through this work, she started putting on Rare Disease Day events at Boston Children's Hospital, and now at Johns Hopkins Hospital as a genetic counselor. Rare Disease Day allows all rare disease stakeholders to come together to share their experiences and continue to learn. Amy is passionate about this global effort to raise awareness and advocate for improved quality of life, diagnosis, and access to care for Rare patients and families. Want to listen to our other episodes with genetic counselors? In Episode 4, our Executive Producer, Kira Dineen, who is also a genetic counselor, shares how genetic counselors can help people navigate having a rare disease. In Episode 7, Genetic Counselor Karen Grinzaid explains prenatal and cancer genetic testing. Kira also joins as a guest host since this is her area of expertise. Want to speak to a genetic counselor? Find one in your area via FindAGeneticCounselor.org. Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.
The Oxford-Harrington Rare Disease Centre represents a transatlantic alliance created to bridge academic research and drug development for rare diseases. Founded in 2019 by the United Kingdom's University of Oxford and the Cleveland-based Harrington Discovery Institute, the center leverages Oxford's world-class rare disease research and Harrington's pharmaceutical-scale expertise to address translational challenges and advance promising therapies for rare diseases lacking approved treatments. We spoke to Matthew Wood, director of the Oxford-Harrington Rare Disease Centre, about the challenges of rare disease drug development, the resources the center brings to address them, and the mechanisms it has established to accelerate therapeutic development.
The most anticipated annual tradition on Out of Patients returns with the 2025 Holiday Podcast Spectacular starring Matthew's twins Koby and Hannah. Now 15 and a half and deep into sophomore year, the twins deliver another unfiltered year end recap that longtime listeners wait for every December. What began as a novelty in 2018 has become a time capsule of adolescence, parenting, and how fast childhood burns off.This year's recap covers real moments from 2025 A subway ride home with a bloodied face after running full speed into that tree that grows in Brooklyn. Broadway obsessions fueled by James Madison High School's Roundabout Youth Ensemble access, including Chess, & Juliet, Good Night and Good Luck, and Pirates of Penzance holding court on Broadway. A Disneylanmd trip where the Millennium Falcon triggered a full system reboot. A New York Auto Show pilgrimage capped by a Bugatti sighting. All the things.The twins talk school pressure, AP classes, learner permit anxiety, pop culture fixation, musical theater devotion, and the strange clarity that comes with turning 15. The humor stays sharp, the details stay specific, and the passage of time stays undefeated. This episode lands where the show works best: family, honesty, and letting young people speak for themselves.FEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Jason Gilley walked into adulthood with a fastball, a college roster spot, and a head of curls that deserved its own agent. Cancer crashed that party and took him on a tour of chemo chairs, pediatric wards, metal taste, numb legs, PTSD, and the kind of late night panic that rewires a kid before he even knows who he is.I sat with him in the studio and heard a story I know in my bones. He grew up fast. He learned how to stare down mortality at nineteen. He found anchors in baseball, therapy, and the strange friendships cancer hands you when it tears your plans apart. He owns the fear and the humor without slogans or shortcuts. Listeners will meet a young man who refuses to let cancer shrink his world. He fights for the life he wants. He names the truth without apology. He reminds us that survivorship stays messy and sacred at the same time. This conversation will stay with you.RELATED LINKS• Jason Gilley on IG• Athletek Baseball Podcast• EMDR information• Children's Healthcare of AtlantaFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Matthew Wood, director and chief scientific officer at Oxford-Harrington Rare Disease Center, discusses the state of rare disease R&D, the evolving landscape of genomics and genetic therapies, and the challenges around the biopharma industry's narrow focus on only 5-10% of rare diseases.
Dr. Marissa Russo trained to become a cancer biologist. She spent four years studying one of the deadliest brain tumors in adults and built her entire research career around a simple, urgent goal: open her own lab and improve the odds for patients with almost no shot at survival. In 2024 she applied for an F31 diversity grant through the NIH. The reviewers liked her work. Her resubmission was strong. Then the grant system started glitching. Dates vanished. Study sections disappeared. Emails went silent. When she finally reached a program officer, the message was clear: scrub the DEI language, withdraw, and resubmit. She rewrote the application in ten days. It failed. She had to start over. Again. This time with her identity erased.Marissa left the lab. She found new purpose as a science communicator, working at STAT News through the AAAS Mass Media Fellowship. Her story captures what happens when talent collides with institutional sabotage. Not every scientist gets to choose a Plan B. She made hers count.RELATED LINKSMarissa Russo at STAT NewsNIH F31 grant story in STATAAAS Mass Media FellowshipContact Marissa RussoFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
“People are not looking for a perfect, polished answer. They're looking for a human to speak to them like a human,” says Jessica Malaty Rivera, an infectious disease epidemiologist and one of the most trusted science communicators in the U.S. to emerge from the COVID-19 pandemic. That philosophy explains her relatable, judgement-free approach to communications which aims to make science more human, more accessible and less institutional. In this wide-ranging Raise the Line discussion, host Lindsey Smith taps Rivera's expertise on how to elevate science understanding, build public trust, and equip people to recognize disinformation. She is also keen to help people understand the nuances of misinformation -- which she is careful to define – and the emotional drivers behind it in order to contain the “infodemics” that complicate battling epidemics and other public health threats. It's a thoughtful call to educate the general public about the science of information as well as the science behind medicine. Tune in for Rivera's take on the promise and peril of AI-generated content, why clinicians should see communication as part of their professional responsibility, and how to prepare children to navigate an increasingly complex information ecosystem.Mentioned in this episode:de Beaumont Foundation 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/podcast
Scott Capozza and I could have been cloned in a bad lab experiment. Both diagnosed with cancer in our early twenties. Both raised on dial-up and mixtapes. Both now boy-girl twin dads with speech-therapist wives and a lifelong grudge against insurance companies. Scott is the first and only full-time oncology physical therapist at Yale New Haven Health, which means if he catches a cold, cancer rehab in Connecticut flatlines. He's part of a small, stubborn tribe of providers who believe movement belongs in cancer care, not just after it. We talked about sperm banking in the nineties, marathon training during chemo, and what it means to be told you're “otherwise healthy” when your lungs, ears, and fertility disagree. Scott's proof that survivorship is not a finish line. It's an endurance event with no medals, just perspective.RELATED LINKSScott Capozza on LinkedIn: https://www.linkedin.com/in/scott-capozza-a68873257Yale New Haven Health: https://www.ynhh.orgExercising Through Cancer: https://www.exercisingthroughcancer.com/team/scott-capozza-pt-msptProfiles in Survivorship – Yale Medicine: https://medicine.yale.edu/news-article/profiles-in-survivorship-scott-capozzaFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Host Emily Walsh Martin welcomes Dr. Jim Burns, CEO of Ensoma, to discuss the company's novel technological approach to treating both rare diseases and solid tumor oncology. Dr. Burns provides a detailed overview of Ensoma's platform and its application in their ongoing clinical trials, including the recently announced first patient infusion for chronic granulomatous disease. Learn how this initial trial is set to inform future therapeutic opportunities for indications with high unmet medical need. Music: ‘Bright New Morning’ by Steven O’Brien – released under CC-BY 4.0. https://www.steven-obrien.net/Show your support for ASGCT!: https://asgct.org/membership/donateSee omnystudio.com/listener for privacy information.
It Happened To Me: A Rare Disease and Medical Challenges Podcast
Happy holidays listeners! With the year coming to an end, Cathy Gildenhorn, Beth Glassman, and our Executive Producer Kira Dineen have been reflecting back on a full three years of “It Happened To Me”. We've produced nearly 75 episodes and learned so much along the way. A good chunk of them have been exploring rare diseases and hearing people's journeys from early symptoms, to diagnosis, to treatment, and beyond. With this in mind, we want to revisit an episode that takes a more macro view on rare diseases. If you're a long time listener of the show, you may know Kira Dineen is not only produces the show, but is also a practicing genetic counselor, so we thought it would be interesting to bring her in front of the mic in this episode to talk about how genetic counselors can help those in the rare disease community. Genetic Counselor, and our podcast co-producer, Kira Dineen shares her insight on when to pursue genetic counseling and how genetic counselors can help people in the rare disease community. Co-producer Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her multi-award winning podcast, "DNA Today", is in the top 1% of podcasts globally. She was accepted into The Podcast Academy and has served as a Blue Ribbon Panelist for The Ambies. Kira received her Diagnostic Genetic Bachelor's of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master's of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Connecticut. On This Episode We Answer: When should a person or couple consider genetic counseling? Is a referral required to see a genetic counselor? Does insurance cover genetic counseling for this? Is genetic testing done before the visit? How many visits are we talking about? Do you ever suggest adoption as an option? When? How do you help people with genetic conditions? Why get tested at all? What have you learned from interviews with patients and rare disease advocates? Do you recommend joining rare disease advocacy groups? Why study rare diseases? What is CRISPR? How could this help treat…or even cure…genetic conditions? You produce a rare disease podcast that focuses on nano rare diseases. What's a nano-rare disease? Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today's Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.
“Delivering a baby one day and holding a patient's hand at the end of life literally the next day...that continuity is very powerful,” says Dr. Jen Brull, board chair of the American Academy of Family Physicians (AAFP). And as she points out, that continuity also builds trust with patients, an increasingly valuable commodity when faith in medicine and science is declining. As you might expect given her role, Dr. Brull believes strengthening family medicine is the key to improving health and healthcare. Exactly how to do that is at the heart of her conversation with host Lindsey Smith on this episode of Raise the Line, which covers ideas for payment reform, reducing administrative burdens, and stronger support for physician well-being. And with a projected shortage of nearly forty thousand primary care physicians, Dr. Brull also shares details on AAFP's “Be There First” initiative which is designed to attract service-minded medical students – whom she describes as family physicians at heart -- early in their educational journey. “I have great hope that increasing the number of these service-first medical students will fill part of this gap.”Tune-in for an informative look at a cornerstone of the healthcare system and what it means to communities of all sizes throughout the nation. Mentioned in this episode:AAFP 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/podcast
Scott Pescatore, Executive VP of the Rare Diseases Business at Recordati, is focused on rare and ultra-orphan diseases with high unmet needs by acquiring promising compounds from other companies and advancing them through development and approval. An example is the company's drug Isturisa, acquired from Novartis, which is an FDA-approved effective treatment for patients with Cushing syndrome, a rare endocrine condition. Raising awareness of rare diseases among physicians, patients, and the general public is a priority for Recordati to improve diagnosis rates and clinical trial participation, and to encourage more research and funding in the rare disease space. Scott explains, "We have two primary divisions at Recordati. One is our specialty primary care business, and the other is the rare disease business, which I have the honor and privilege to look after. And we have a very simple sort of work ethic or business mantra, if you will, and that's focused on the few. And we really dedicate ourselves to focusing on disease areas and patient groups and therapeutic areas that have a high unmet need and really low or limited options for patients. And really focusing on diseases and areas that are rare and considered ultra-orphan by the definitions in the US, where really there's a very small patient base. And that's where we began back in 2007, when the rare disease business was formed. And that's really what our focus has been since then. And we continue to focus on this segment of the market." "So Isturisa is really a fantastic product. We acquired this product through a deal we did with Novartis Pharmaceuticals back in 2019, and this product has FDA approval for patients who have endogenous hypercortisolemia with Cushing syndrome. So it's quite a nasty disease, but it's a very efficacious product. The product is what's considered a cortisol inhibitor in the blocks in a particular enzyme to help normalize hypercortisolemia in patients with Cushing syndrome. And Cushing syndrome, for those who aren't familiar, is a rare endocrine condition that really has a significant impact on patients' quality of life, on the caregivers, on the families. And the indication I mentioned was supported by quite robust phase 3 trials." #Recordati #RareDisease #FocusedontheFew #CushingSyndrome #IMCD #CastlemansDisease recordati.com Download the transcript here
Scott Pescatore, Executive VP of the Rare Diseases Business at Recordati, is focused on rare and ultra-orphan diseases with high unmet needs by acquiring promising compounds from other companies and advancing them through development and approval. An example is the company's drug Isturisa, acquired from Novartis, which is an FDA-approved effective treatment for patients with Cushing syndrome, a rare endocrine condition. Raising awareness of rare diseases among physicians, patients, and the general public is a priority for Recordati to improve diagnosis rates and clinical trial participation, and to encourage more research and funding in the rare disease space. Scott explains, "We have two primary divisions at Recordati. One is our specialty primary care business, and the other is the rare disease business, which I have the honor and privilege to look after. And we have a very simple sort of work ethic or business mantra, if you will, and that's focused on the few. And we really dedicate ourselves to focusing on disease areas and patient groups and therapeutic areas that have a high unmet need and really low or limited options for patients. And really focusing on diseases and areas that are rare and considered ultra-orphan by the definitions in the US, where really there's a very small patient base. And that's where we began back in 2007, when the rare disease business was formed. And that's really what our focus has been since then. And we continue to focus on this segment of the market." "So Isturisa is really a fantastic product. We acquired this product through a deal we did with Novartis Pharmaceuticals back in 2019, and this product has FDA approval for patients who have endogenous hypercortisolemia with Cushing syndrome. So it's quite a nasty disease, but it's a very efficacious product. The product is what's considered a cortisol inhibitor in the blocks in a particular enzyme to help normalize hypercortisolemia in patients with Cushing syndrome. And Cushing syndrome, for those who aren't familiar, is a rare endocrine condition that really has a significant impact on patients' quality of life, on the caregivers, on the families. And the indication I mentioned was supported by quite robust phase 3 trials." #Recordati #RareDisease #FocusedontheFew #CushingSyndrome #IMCD #CastlemansDisease recordati.com Listen to the podcast here
In this episode of On Rare Innovators, Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, and David Rintell, Head of Patient Advocacy at BridgeBio, talk with Nasha Fitter, a parent, entrepreneur, and rare disease leader whose determination was reshaped the day her daughter Amara was diagnosed with FOXG1 syndrome. Drawing on a career defined by bold pivots and purpose-driven problem solving, Nasha is challenging long-held assumptions about what small, rare disease communities can achieve. From building the FOXG1 Research Foundation to co-founding Citizen Health, she has pushed for new models of data, drug development, and patient empowerment. Nasha's story is a reminder that innovation often begins with a single question: “Who says we can't do this?”
ChairProfessor Yoshikatsu EtoAdvanced Clinical Research Center, Southern Tohoku Research Center for Neuroscience, Tokyo, JapanSpeakersDr Nicole Muschol International Center for Lysosomal Disorders (ICLD), University Medical Center, Hamburg-Eppendorf, GermanyProfessor Patrício AguiarInborn Errors of Metabolism Reference Center, Unidade Local de Saúde de Santa Maria / Faculty of Medicine, Lisbon University, PortugalDr Robert HopkinCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USAProfessor Yoshikatsu EtoWelcome to the Chiesi symposium. The title of this symposium, Catching the Clues, Changing the Cause of Lysosomal Storage Disease: Illuminating Complex Pathway of Rare Disease with Fabry Disease, Alpha-Mannosidosis, in Focus.This is a disclaimer: Following discussion does not focus on or depict any specific products manufactured by any pharmaceutical company. Patient cases are for medical discussion only and reflect the faculty own experience. They represent a typical clinical scenario. This presentation in part and whole may not be reproduced and not copy and not recording.I'm Dr. Eto from Tokyo, Japan, and the three distinguished speakers: Dr. Nicole Muschol from Germany, Eppendorf University. Professor Aguiar, the Portuguese, The Inborn Errors of Metabolism Reference Center, and also Professor Robert Hopkin, Cincinnati Children's Hospital, United States.The purpose of this symposium: Explore the patient journey across the LSD continuum, focusing on the unmet needs and diagnosis, and treatment initiation, and long-term management, and utilize case-based discussion focused on Alpha-mannosidosis, Fabry disease to highlight disease-specific challenges. Access where challenge persist in patient journey, and where tailored intervention can improve outcomes.Introduction of LSD patient journey with a spotlight on Fabry disease, Alpha-mannosidosis. Challenge to the diagnosis and then treatment and monitoring. Common LSD challenges over the patient journey, as shown here, and at least more than 70 different lysosomal diseases known. Incidence is about 1:5,000-1:8,000 in newborn. In the literature, much higher incidence.Multi-organ manifestation in many organ involved, and clinical heterogeneity are very complicated. The new screen method has been established already. Identify patient presymptomatically. That important by the newborn screening, something like that, early treatment essential. After the diagnosis treatment start, early and the presymptomatic treatment initiation, and usually delayed diagnosis, delayed treatment. Perceived burden of treatment may delay treatment start in patient milder form. Milder form is very difficult in the many cases, and particularly for Fabry disease also.After the treatment start and then monitoring, as you know, we discussed about the monitoring rely on the combination of clinical assessment, laboratory test, biomarkers, and imaging, and several other factors. Biomarkers and ADA drug assay lack standardization. Actually, the Alpha, and Beta, or [inaudible 00:03:19] Fabry disease, different ADA-titled measurement. Also, the patient experience between clinical visit, ERT infusion is under-reported.We discuss today two topics, two disease. Alpha-mannosidosis is very rare. In Japan, only few cases, and caused by the deficiency of Alpha-mannosidase, an accumulation of mannose-rich oligosaccharides and inheritance of autosomal-recessive. Age of onset is a very early period and younger period, adult period. Incidence approximately is very rare, 1:500,000.There are diseases we don't know exactly. If you have a treatment, maybe your incidence is much increased, and severe or attenuated [inaudible 00:04:09]. Alpha-mannosidosis is still a new disorder, and must differentiate from Mucopolysaccharidosis.On the other hand, the Fabry disease I think is very common. There are many discussion already in the past 20 years. Deficiency of a-Gal A, accumulation of Gb3⁵ or Lyso-Gb3, many other glycoprotein, which a terminal of a-Gal A, and X-chromosome. This is very important X-chromosomal inheritance. In case of this, and usually, female does not affect, but in case of Fabry, more of female also involved.First symptom, imagine at any age. Then incidence about 1:40,000-1:60,000. But depending on the country, as you know, classical form, about 1:40,000. Recently, after the newborn screening, late onset, very high incidence. About 90% of it—actually, we carried out a newborn screening in Japan—90% are late onset. But the clinical variety, so many clinical varieties, so incidents here, 1:3,000-1:4,000, something like that. Now, using the Alpha-mannosidosis and Fabry disease as an illustrative example, we will explore these disorders.
Dr. MaryAnn Wilbur trained her whole life to care for patients, then left medicine behind when it became a machine that punished empathy and rewarded throughput. She didn't burn out. She got out. A gynecologic oncologist, public health researcher, and no-bullshit single mom, MaryAnn walked straight off the cliff her career breadcrumbed her to—and lived to write the book.In this episode, we talk about what happens when doctors are forced to choose between their ethics and their employment, why medicine now operates like a low-resource war zone, and how the system breaks the very people it claims to elevate. We cover moral injury, medical gaslighting, and why she refused to lie on surgical charts just to boost hospital revenue.Her escape plan? Tell the truth, organize the exodus, and build something that actually works. If you've ever wondered why your doctor disappeared, this is your answer. If you're a clinician hiding your own suffering, this is your permission slip.RELATED LINKSMaryAnn Wilbur on LinkedInMedicine ForwardClinician Burnout FoundationThe Doctor Is No Longer In (Book)Suck It Up, Buttercup (Documentary)FEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee 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 54 Hoping Through the Holidays Christmas is the season of hope. But hope can be complicated for rare disease parents navigating exhaustion, medical uncertainty, chronic stress, and the ache of unanswered prayers. In this episode of Rare Mamas Rising, we explore what hope really looks like for rare disease parents and caregivers during a season that can feel both beautiful and painfully complicated. This episode gently unpacks the realities of hoping in the hard: hope in the waiting, hope after disappointment, hope when you're exhausted, and hope when you're scared to try again. It offers reflections on why hope is an action we choose, how it keeps us moving in the world of medical parenting, and the surprising ways hope can transform us even before our circumstances change. For every rare caregiver navigating uncertainty or heaviness this time of year, this conversation creates space to reconnect with hope. Links & Resources Mentioned: For more thoughts on Hope, check out Nikki's new book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease. Order the book today at the links below: Amazon Apple Books Barnes & Noble Bookshop.org Books-A-Million IndieBound Indigo Kobo Porchlight Book Info: 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
Episode 5 of Standard Deviation with Oliver Bogler on the Out of Patients podcast feed pulls you straight into the story of Dr Ethan Moitra, a psychologist who fights for LGBTQ mental health while the system throws every obstacle it can find at him.Ethan built a study that tracked how COVID 19 tore through an already vulnerable community. He secured an NIH grant. He built a team. He reached 180 participants. Then he opened an email on a Saturday and learned that Washington had erased his work with one sentence about taxpayer priorities. The funding vanished. The timeline collapsed. His team scattered. Participants who trusted him sat in limbo.A federal court eventually forced the government to reinstate the grant, but the damage stayed baked into the process. Ethan had to push through months of paperwork while his university kept the original deadline as if the shutdown had not happened. The system handed him a win that felt like a warning.I brought Ethan on because his story shows how politics reaches into science and punishes the people who serve communities already carrying too much trauma. His honesty lands hard because he names the fear now spreading across academia and how young scientists question whether they can afford to care about the wrong population.You will hear what this ordeal did to him, what it cost his team, and why he refuses to walk away.RELATED LINKSFaculty PageNIH Grant DetailsScientific PresentationBoston Globe CoverageFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
“This is a time to reimagine public health and public health/healthcare system integration,” says Dr. Deb Houry, the former chief medical officer for the US Centers for Disease Control and Prevention. In this thoughtful Raise the Line conversation, Dr. Houry reflects on unprecedented federal action in vaccine guidance and other issues since her noteworthy resignation from the CDC in August, and sees a more decentralized landscape emerging where states and localities play a larger role in providing public health recommendations. And while she acknowledges upsides to this shift, she's also concerned what the absence of a national consensus on health standards could mean. “Diseases don't recognize borders, and it's also important that people have equitable access to preventative services, vaccines, and other things,” she tells host Lindsey Smith. Tune in for Dr. Houry's seasoned perspective on this consequential moment in public health, and her encouraging message for learners and early career providers considering a career in the sector.Mentioned in this episode:DH Leadership & Strategy Solutions 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/podcast
Chelsea J. Smith walks into a studio and suddenly I feel like a smurf. She's six-foot-three of sharp humor, dancer's poise, and radioactive charm. A working actor and thyroid cancer survivor, Chelsea is the kind of guest who laughs while dropping truth bombs about what it means to be told you're “lucky” to have the “good cancer.” We talk about turning trauma into art, how Shakespeare saved her sanity during the pandemic, and why bartending might be the best acting class money can't buy. She drops the polite bullshit, dismantles survivor guilt with punchline precision, and reminds every listener that grace and rage can live in the same body. If you've ever been told to “walk it off” while your body betrayed you, this one hits close.RELATED LINKS• Chelsea J. Smith Website• Chelsea on Instagram• Chelsea on Backstage• Chelsea on YouTube• Cancer Hope Network• Artichokes and Grace – Book by Chelsea's motherFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
When Julia Stalder heard the words ductal carcinoma in situ, she was told she had the “best kind of breast cancer.” Which is like saying you got hit by the nicest bus. Julia's a lawyer turned mediator who now runs DCIS Understood, a new nonprofit born out of her own diagnosis. Instead of panicking and letting the system chew her up, she asked questions the industry would rather avoid. Why do women lose breasts for conditions that may never become invasive? Why is prostate cancer allowed patience while breast cancer gets the knife? We talked about doctors' fear of uncertainty, the epidemic of overtreatment, and what happens when you build a movement while still in the waiting room. Funny, fierce, unfiltered—this one sticks.RELATED LINKS• DCIS Understood• Stalder Mediation• Julia's story in CURE Today• PreludeDx DCISionRT feature• Julia on LinkedInFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Dr. Rachel Gatlin entered neuroscience with curiosity and optimism. Then came chaos. She started her PhD at the University of Utah in March 2020—right as the world shut down. Her lab barely existed. Her advisor was on leave. Her project focused on isolation stress in mice, and then every human on earth became her control group. Rachel fought through supply shortages, grant freezes, and the brutal postdoc job market that treats scientists like disposable parts. When her first offer vanished under a hiring freeze, she doubled down, rewrote her plan, and won her own NIH training grant. Her story is about survival in the most literal sense—how to keep your brain intact when the system built to train you keeps collapsing.RELATED LINKS• Dr. Rachel Gatlin on LinkedIn• Dr. Gatlin's Paper Preprint• Dr. Eric Nestler on Wikipedia• News Coverage: Class of 2025 – PhD Students Redefine PrioritiesFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Neil Kumar is founder and CEO of Palo Alto, Calif.-based BridgeBio Pharma, a rare disease drug developer.
“My most powerful content is when I lead with my voice as a mom because I have the same concerns about keeping my kids safe as my audience does. It's a powerful and effective way to find common ground with people,” says Dr. Jess Steier, a popular public health scientist and science communicator seeking to bridge divides and foster trust through empathetic, evidence-based communication. Dr. Steier has several platforms from which to do this work, including Unbiased Science -- a communication hub that uses multiple social media platforms and other communications channels to share validated health and science information -- and as executive director of the Science Literacy Lab, a nonprofit organization dedicated to reaching a diverse audience seeking clarity and reliable information on scientific topics. “The science is less than half the battle,” she explains. “It's about how to communicate with empathy.”Join Raise the Line host Lindsey Smith for a valuable conversation that explores:What sources Dr. Steier relies on to validate informationHow she uses “escape room” exercises to train clinicians on empathetic communicationWhy tailored, story-driven messages reach audiences more effectively than facts.Mentioned in this episode:Unbiased Science 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/podcast
EPISODE DESCRIPTIONBefore she was raising millions to preserve fertility for cancer patients, Tracy Weiss was filming reenactments in her apartment for the Maury Povich Show using her grandmother's china. Her origin story includes Jerry Springer, cervical cancer, and a full-body allergic reaction to bullshit. Now, she's Executive Director of The Chick Mission, where she weaponizes sarcasm, spreadsheets, and the rage of every woman who's ever been told “you're fine” while actively bleeding out in a one-stall office bathroom.We get into all of it. The diagnosis. The misdiagnosis. The second opinion that saved her life. Why fertility preservation is still a luxury item. Why half of oncologists still don't mention it. And what it takes to turn permission to be pissed into a platform that actually pays for women's futures.This episode is blunt, hilarious, and very Jewish. There's chopped liver, Carrie Bradshaw slander, and more than one “fuck you” to the status quo. You've been warned.RELATED LINKSThe Chick MissionTracy Weiss on LinkedInFertility Preservation Interview (Dr. Aimee Podcast)Tracy's Story in Authority MagazineNBC DFW FeatureStork'd Podcast EpisodeNuDetroit ProfileChick Mission 2024 Gala RecapFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship, 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.
EPISODE DESCRIPTION:Libby Amber Shayo didn't just survive the pandemic—she branded it. Armed with a bun, a New York accent, and enough generational trauma to sell out a two-drink-minimum crowd, she turned her Jewish mom impressions into the viral sensation known as Sheryl Cohen. What started as one-off TikToks became a career in full technicolor: stand-up, sketch, podcasting, and Jewish community building.We covered everything. Jew camp lore. COVID courtship. Hannah Montana. Holocaust comedy. Dating app postmortems. And the raw, relentless grief that comes with being Jewish online in 2025. Libby's alter ego lets her say the quiet parts out loud, but the real Libby? She's got receipts, range, and a righteous sense of purpose.If you're burnt out on algorithm-friendly “influencers,” meet a creator who actually stands for something. She doesn't flinch. She doesn't filter. And she damn well earned her platform.This is the most Jewish episode I've ever recorded. And yes, there will be guilt.RELATED LINKSLibby's Website: https://libbyambershayo.comInstagram: https://www.instagram.com/libbyambershayoTikTok: https://www.tiktok.com/@libbyambershayoLinkedIn: https://www.linkedin.com/in/libby-walkerSchmuckboys Podcast: https://jewishjournal.com/podcasts/schmuckboysForbes Feature: Modern Mrs. Maisel Vibes https://www.forbes.com/sites/joshweissMedium Profile: https://medium.com/@libbyambershayoFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform.For guest suggestions or sponsorship, 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.
In this episode, Steven Ringel, CEO of the Kazuna Foundation and Nome Therapeutics, joins the podcast to discuss how his team is using artificial intelligence to make personalized medicine accessible for rare disease patients. He shares emerging trends in AI and healthcare, the growing potential of individualized therapies, and his advice for passionate leaders driving innovation in the field.
In this episode, Steven Ringel, CEO of the Kazuna Foundation and Nome Therapeutics, joins the podcast to discuss how his team is using artificial intelligence to make personalized medicine accessible for rare disease patients.
When the system kills a $2.4 million study on Black maternal health with one Friday afternoon email, the message is loud and clear: stop asking questions that make power uncomfortable. Dr. Jaime Slaughter-Acey, an epidemiologist at UNC, built a groundbreaking project called LIFE-2 to uncover how racism and stress shape the biology of pregnancy. It was science rooted in community, humanity, and truth. Then NIH pulled the plug, calling her work “DEI.” Jaime didn't quit. She fought back, turning her grief into art and her outrage into action. This episode is about the cost of integrity, the politics of science, and what happens when researchers refuse to stay silent.RELATED LINKS• The Guardian article• NIH Grant• Jaime's LinkedIn Post• Jaime's Website• Faculty PageFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Dr. David Fajgenbaum, MD, MBA, MSc, is a pioneering physician-scientist, tenured professor at the Perelman School of Medicine at the University of Pennsylvania, and national bestselling author who transformed his personal battle with the rare, deadly Castleman disease into a global mission to accelerate cures for humanity's 12,000 known diseases. Diagnosed after losing his mother to cancer, Fajgenbaum endured five near-death experiences before using his medical training to identify sirolimus—a repurposed drug—as a life-saving treatment, achieving remission marking over a decade cancer-free as of 2025. A Georgetown University graduate with advanced degrees from Oxford and Wharton, he co-founded the Castleman Disease Collaborative Network (CDCN) and Every Cure, leveraging AI and drug repurposing to unlock hidden treatments, earning spots on TIME's 2025 TIME100 Health list and major media recognition for his "cure thyself" story. Through his book Chasing My Cure and speaking engagements, Fajgenbaum inspires hope, advocates for patient-driven research, and pushes for policy changes to speed up cures for rare diseases affecting millions worldwide. Shawn Ryan Show Sponsors: https://americanfinancing.net/srs NMLS 182334, nmlsconsumeraccess.org. APR for rates in the 5s start at 6.327% for well qualified borrowers. Call 866-781-8900, for details about credit costs and terms. https://bunkr.life – USE CODE SRS Go to https://bunkr.life/SRS and use code “SRS” to get 25% off your family plan. https://shawnlikesgold.com https://ROKA.com – USE CODE SRS https://simplisafe.com/srs https://USCCA.com/srs https://ziprecruiter.com/srs https://gemini.com/srs Sign up for the Gemini Credit Card: https://Gemini.com/SRS #GeminiCreditCard #CryptoRewards #Advertisement This video is sponsored by Gemini. All opinions expressed by the content creator are their own and not influenced or endorsed by Gemini. The Bitcoin Credit Card™ is a trademark of Gemini used in connection with the Gemini Credit Card®, which is issued by WebBank. For more information regarding fees, interest, and other cost information, see Rates & Fees: gemini.com/legal/cardholder-agreement. Some exclusions apply to instant rewards; these are deposited when the transaction posts. 4% back is available on up to $300 in spend per month for a year (then 1% on all other Gas, EV charging, and transit purchases that month). Spend cycle will refresh on the 1st of each calendar month. See Rewards Program Terms for details: gemini.com/legal/credit-card-rewards-agreement. Checking if you're eligible will not impact your credit score. If you're eligible and choose to proceed, a hard credit inquiry will be conducted that can impact your credit score. Eligibility does not guarantee approval. The appreciation of cardholder rewards reflects a subset of Gemini Cardholders from 10/08/2021 to 04/06/2025 who held Bitcoin rewards for at least one year. Individual results will vary based on spending, selected crypto, and market performance. Cryptocurrency is highly volatile and may result in gains or losses. This information is for general informational purposes only and does not constitute investment advice. Past performance is not indicative of future results. Consult with your tax or financial professional before investing. Dr. David Fajgenbaum Links: Website - https://davidfajgenbaum.com X - https://x.com/DavidFajgenbaum IG - https://www.instagram.com/dfajgenbaum LI - https://www.linkedin.com/in/davidfajgenbaum Every Cure - https://everycure.org Castleman Disease Collaborative Network - https://cdcn.org TED talk - go.ted.com/davidfajgenbaum TED YT - https://youtu.be/sb34MfJjurc Chasing My Cure (Amazon) - https://www.amazon.com/Chasing-My-Cure-Doctors-Action/dp/1524799637 Learn more about your ad choices. Visit podcastchoices.com/adchoices
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