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What happens when you blend the soul of Mr. Rogers, the boldness of RuPaul, and just a pinch of Carrie Bradshaw? You get Sally Wolf.She's a Harvard and Stanford powerhouse who ditched corporate media to help people actually flourish at work and in life—because cancer kicked her ass and she kicked it back, with a pole dance routine on Netflix for good measure.In this episode, we unpack what it means to live (really live) with metastatic breast cancer. We talk about the toxic PR machine behind "pink ribbon" cancer, how the healthcare system gaslights survivors when treatment ends, and why spreadsheets and dance classes saved her sanity. Sally doesn't just survive. She rewrites the script, calls out the BS, and shows up in full color.If you've ever asked “Why me?”—or refused to—this one's for you.RELATED LINKS:Sally Wolf's WebsiteLinkedInInstagramCosmopolitan Essay: "What It's Like to Have the 'Good' Cancer"Oprah Daily Article: "Five Things I Wish Everyone Understood About My Metastatic Breast Cancer Diagnosis"Allure Photo ShootThe Story of Our Trauma PodcastFEEDBACK:Like 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.
On this episode, Tania Simoncelli (Vice President, Translational Impact and Engagement, Chan Zuckerberg Initiative) and Nasha Fitter (Co-founder & CBO, Citizen Health and Co-founder & CEO, FOXG1 Research Foundation) join forces to discuss how rare disease patient advocacy has transformed over time and how the biopharmaceutical industry should adapt to better meet the needs of today's patients. They dive deeper into the evolution of rare disease patient advocacy groups, why industry must move beyond the hyperfocus on “blockbuster drugs” to make progress in rare disease research, and how advancements in rare disease treatments can benefit the clinical research ecosystem for all.
There are cell therapies, gene therapies, and biologics – and then there is Immusoft. Immusoft sits at the nexus point of some of the most innovative approaches in biopharma, and their Immune System Programming platform is unique in its capacity to address the rare disease, MPS I. This week we talk with Immusoft CEO Sean Ainsworth to learn more about his journey in biotechnology, the work that Immusoft is doing in B-cell reprogramming and unpack some of the positive results that the company recently shared at the WORLD Symposium.01:08 Early interests in biotechnology03:21 First experiences in biotech entrepreneurship04:29 Startup exits and liquidity events07:32 Influences and mentors08:43 Immusoft and its mission09:28 Programming B-cells13:08 Disease targets14:55 Encountering and overcoming technical challenges15:53 MPS I17:38 Differentiation for MPS I patients19:42 WORLD Symposium 202520:23 What's next in the clinic21:25 Urgency vs safety 24:26 At the nexus of cell therapy, gene therapy, and biologics27:20 Manufacturing, scaling, and funding30:31 Next on the horizon for ImmusoftInterested in being a sponsor of an episode of our podcast? Discover how you can get involved here! Stay updated by subscribing to our newsletterTo dive deeper into the topic: Rare Disease Day: seven drugs awaiting approval in 202510 biotech companies making a difference in rare diseases
In this episode, Jeffrey Allen, a passionate advocate for rare disease awareness and a dedicated father to Lucas, who has creatine transporter deficiency. (CTD is also referred to as SLC6A8 Deficiency, CRTR, and X-linked Creatine Transporter Deficiency.Mutations in the SLC6A8 gene result in CTD.While patients with CTD have the necessary AGAT and GAMT enzymes to form creatine, the creatine transporter does not function properly. This results in creatine in the bloodstream, but not in the brain and muscles.) Jeffrey shares his journey of parenting a child with a rare disease, the life lessons he has learned from Lucas, and his experiences participating in the Ruck for Rare and the Beast Games. He emphasizes the importance of community support, advocacy, and the beauty found in challenges. The conversation highlights the significance of genetic testing and awareness for rare diseases, as well as the need for connection and communication among parents in similar situations.
On this episode of “Raise the Line” we welcome Dr. Sheldon Fields, a trailblazer in the nursing field and the president of the National Black Nurses Association. In a candid conversation, Dr. Fields shares his inspiring journey from the bedside to becoming a prominent figure in nursing, HIV/AIDS prevention and academia and also shares the challenges he faced as a Black man in a predominantly white and female field. "I fell in love with a profession that has not always loved me back," he tells host Kelsey Lafayette. Dr. Fields brings over thirty years of experience as an educator, researcher, clinician, administrator, consultant, health policy specialist, and entrepreneur to his current role at NBNA, and as the inaugural associate dean for equity and inclusion at the College of Nursing at Penn State University, where he also serves as a research professor. Listeners will find Dr. Fields' insights on navigating a career in healthcare particularly valuable, as he stresses the importance of resilience, continuing education, and mentorship. It's a compelling listen for anyone interested in the intersection of health, policy, and social justice.Mentioned in this episode:National Black Nurses Association 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
CTX is a rare metabolic disease that can cause seizures, developmental delays, and intellectual disability. Now, a diagnostic test that can detect the condition early is available, and a treatment that can prevent the disease's serious effects has won regulatory approval. We spoke to Bart Duell, professor of medicine at Oregon Health Sciences University, about CTX, the role OHSU played in developing a diagnostic and advancing a treatment for CTX; and the critical interplay between academic medical centers, patient advocates, and drug developers to address the needs of people with rare diseases.
How do we create continuing education that prepares clinicians to deliver life-changing diagnoses with both precision and compassion?In this episode, we explore what happens when the scientist's role as a communicator intersects with the lived experience of parenting a child with a rare disease. I'm talking with Dr. Jennifer Brown, a geneticist who recently published a memoir, When the Baby is not OK: Hopes and Genes, based on her experience of parenting children diagnosed with PKU through newborn screening. For CME professionals, this episode is a call to rethink how we center narrative, ethics, and emotional intelligence in our content, especially when evidence alone isn't enough to support meaningful patient care. Learn how outdated narratives and clinical language can alienate patients—and how reframing them can build trust and support retention in care. Hear why integrating lived experience into CME is essential for designing education that resonates beyond the exam room. Discover how personal storytelling, ethical reflection, and patient advocacy can enrich data-driven CME writing. ▶️ Press play to discover how Dr. Jennifer Brown's dual lens—as a geneticist and parent—can sharpen your skills as a more empathetic, informed CME professional. Connect with Jennifer LinkedIn Goodreads Author Site Bluesky YouTube
AI is reshaping rare disease treatments by accelerating drug repurposing, identifying therapeutic opportunities, and unlocking actionable insights hidden in clinical data. Discover how innovative frameworks and technology platforms are helping healthcare leaders, diagnostic companies, and telehealth providers uncover new treatment pathways faster and more efficiently. Dr. Sanjay Juneja (https://sjunejamd.com/) speaks with Dr. David Fajgenbaum (https://www.linkedin.com/in/davidfajgenbaum) about the ethical imperative of using AI-driven drug repurposing to address underserved rare conditions and the growing potential to surface overlooked therapies. Gain practical insights on decision-making, data analysis, and scalable solutions that can impact patient care.
Episode DescriptionAudra Moran is the President and CEO of OCRA—Ovarian Cancer Research Alliance—which means she spends her days doing things most of us wouldn't survive five minutes doing: merging nonprofits, leading national patient support programs, funding lifesaving research, surviving pharma grant hell, and trying to reach every woman in America who might be slipping through the cracks. We talk about her time working with the Helen Keller National Center (yes, she knows finger spelling), her accidental journey into cancer nonprofit leadership, the weirdness of dermoid cysts, the ridiculousness of writing grants, and the absolute hellscape of diagnosis delay. Oh, and the fallopian tubes. You'll never look at them the same way again.This episode is funny, raw, deeply personal, and loaded with Gen X movie references and random facts about Paul Rudd, Terminator 2, and flipbook apps at 3am. Audra drops wisdom, humility, and a few hot takes on AI, advocacy, and what it really means to lead when the boulder keeps rolling downhill.RELATED LINKSAudra Moran on LinkedInOvarian Cancer Research Alliance (OCRA)Audra's profile on OCRACURE Today interview: Leading the FightOCRA + AI & Data: Overlooked PodcastFEEDBACKLike 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.
A 70-year-old person with cystic fibrosis. It's a phrase that wasn't just uncommon a few decades ago—it was virtually unheard of.When Luanne McKinnon was diagnosed in 1969 at just 13 years old, doctors told her parents she might live to be 19 years old. Today, Luanne stands on the edge of her 70th birthday—a milestone that not only redefines possibility but embodies resilience, creativity, and purpose.Born in Dallas, Texas in 1955, Luanne was diagnosed at a time when cystic fibrosis was still barely understood. No vests. No targeted medications. No community. And yet, she carved out a life of profound impact. “I stand as a witness to the possible.” says Luanne McKinnonAfter earning a Master of Fine Art in Painting and a PhD in Art History, she launched a celebrated career in the visual arts—owning an art dealership in New York City, directing major university museums, publishing works, and curating over 35 exhibitions. She even became a Fellow at the prestigious Getty Research Institute.And while that would be more than enough for most of us, Luanne continued to pour herself into advocacy—serving as Co-chair for Stanford's Patient and Family Advisory Committee, raising awareness for CF patients before and after transplant. In 2011, she underwent a successful double-lung transplant at Stanford, and fourteen years later, she is still very much living proof.This episode is not about her equally remarkable husband—EMMY award-winning filmmaker Daniel Reeve—though we'll mention him later. This is about Luanne—her life, her art, her truth, and her refusal to let a diagnosis define the limits of her possibility. She says, “I stand as a witness to the possible.”And after listening to this conversation, I think you'll believe in the possible, too.Welcome, to a very special episode of the Living with cystic fibrosis podcast and our incredible guest, Luanne McKinnon. 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
RARE MAMAS RISING- EPISODE 49 Holding On To Our Identity with Rare Mama Nikki McIntosh In this empowering Mother's Day episode of Rare Mamas Rising, host Nikki invites listeners into a raw, tender conversation about what it means to hold on to your identity while parenting a child with a rare disease. From personal reflections to stories from fellow rare moms, this episode explores the invisible shifts in identity and small but powerful ways to reconnect with who you are. Because this Mother's Day, we're celebrating the whole you— not just the caregiver, but the creative, the dreamer, the friend, the person. This episode is a tribute to the woman behind the diagnosis — a celebration of who you are, who you were, and who you're becoming. 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
Send us a textIn this special episode of Confessions of a Rare Disease Mama, I'm sharing the live audio from a panel I had the honor of moderating at the Global Genes Rare Advocacy Exchange. This conversation dives into the power of creative fundraising—something so many of us in the rare disease community are tasked with, whether we feel ready or not.You'll hear from three incredible rare parents who are using their voices, talents, and grit to fund life-changing research and support. We talk strategy, heart, and the very real emotional toll (and triumph) that comes with fundraising for our children.
“Blind baseball - it's like the great equaliser. I've found the experience of playing the adaptive sports just as fulfilling, motivating, and frankly competitive as the sports I played as a sighted person growing up.” Our guest on Outlook this week was used to adversity in life, having faced both grief and treatment of a serious chronic illness as a teenager. When Zach Ship was newly blind, years later, he was wished a “Happy Disability Pride Month” by The Lighthouse Guild and he didn't believe there was much to be proud of though he soon learned otherwise. Zach explains to us some of the rules of blind baseball and about what it meant to him when he discovered the sport, in its adaptive form, which gave him something back of the years playing sports like baseball competitively. So when he heard a documentary on the blind baseball team was being made, he was thrilled others might see what blind baseball (difficult to imagine for so many) is like.. So from our friendly cross-border Major League team rivalry to the support group and club we three are all a part of/considering starting, Ship has been through everything( from acute/sudden and unexpected health situations/acquired disability to the loss of a parent at a young age) and shares some of the lessons on the possibilities of adaptation and the power of community. “No way of reacting is right or wrong, but focusing on what things we do still have, the things you can still enjoy. Even if it's just you can eat this delicious meal or you can feel the sun on your face. It could be small things or it could be big things, always keeping that very very close in mind is critical.” We first heard Zach Ship on “It Happened to Me, A Rare Disease and Medical Challenges Podcast - It happened to me. I'm not alone and neither are you.” This is the message he both benefited from thanks to others, in his own journey, but also the message he believes as he's become a disability advocate now himself. To learn more about Blind Baseball and the documentary being made about Zach Ship's team, check out this Indiegogo page: https://www.indiegogo.com/projects/blind-baseball-documentary-halfway-funded#/ Watch the documentary teaser trailer here: https://vimeo.com/963770229
In this episode, Ayesha speaks with Sumita Bhatta, MD, Vice President and Global Development Therapeutic Head of Rare Disease at Amgen. In the conversation, Dr. Bhatta shares insights on how large pharmaceutical companies like Amgen are approaching innovation and patient-centricity in the rare disease space. She also discusses the unique challenges and opportunities in developing therapies for small patient populations and how cross-functional collaboration drives progress in this complex field. Dr. Bhatta is a board-certified medical oncologist with over a decade of experience in the biopharmaceutical industry serving multiple roles in research and development. Dr. Bhatta received her undergraduate degree from UCLA and received both an MA in Applied Physiology and MD from the Rosalind Franklin University of Medicine and Science in Chicago, IL. She completed her internal medicine residency, hematology/oncology fellowship and a clinical pharmacology/pharmacogenomics fellowship at the University of Chicago. Tune in to hear how Dr. Bhatta and her team are advancing innovation in rare disease drug development — and why big pharma's role in this space matters more than ever. For more life science and medical device content, visit the Xtalks Vitals homepage. https://xtalks.com/vitals/ Follow Us on Social Media Twitter: https://twitter.com/Xtalks Instagram: https://www.instagram.com/xtalks/ Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured
Christine Verini is a pharmacist by training, a nonprofit CEO by title, and an unapologetic empath by design. She now leads CancerCare, one of the oldest, least-known, and most impactful organizations in the country that actually helps real cancer patients deal with the practical garbage no one likes to talk about—like paying rent, affording a ride to chemo, or feeding their kids.We talk about her career pivot from industry to impact, what it's like trying to scale empathy without losing your soul, and the daily gut-punch of knowing there are millions of people who still have no idea that CancerCare exists. Christine gets real about leadership, advocacy, burnout, and why being “pan-cancer” matters more than ever in a world obsessed with biomarkers, buckets, and branding.She also dishes on what AI gets dead wrong, what patients actually want when they call for help, and why “ghosting” someone with cancer is still a thing. Buckle up. This one's packed with heart, brains, and a little righteous rage.RELATED LINKSCancerCareChristine Verini on LinkedInChristine's CEO Announcement – PR NewswireCancer Health 25: Christine VeriniChristine on HealthyWomenBIO Convention Speaker ProfileFEEDBACKLike 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.
There are some incredible humans on planet Earth and Dr. Shoshana Shendelman is one of them. Dr. Shendelman is a PhD in cellular, molecular, and biophysical studies, and has committed her professional career to tackling some of medicine's toughest challenges, curing rare and underserved diseases. Dr. Shendelman sits on Columbia University's board of trustees and is vice chair of its medical board. She also IPO'd her company Applied Therapeutics, which eventually exceeded a billion-dollar market cap. But sometimes life takes unexpected turns. We can all relate. Applied Therapeutics and Dr. Shendelman's important research and development surrounding treatments for three diseases became entangled in an FDA procedural technical issue. Thank you, Dr. Shendelman, for joining me on Some Future Day to share your inspirational journey across the business of biotech, academia, and family. Wait until you hear about this incredible family! Enjoy.Order Marc's new book, "Some Future Day: How AI Is Going to Change Everything"Sign up for the Some Future Day Newsletter here: https://marcbeckman.substack.com/Episode Links:Dr. Shoshana on LinkedIn: https://www.linkedin.com/in/shoshana-shendelman-phd-8756926/Applied Therapeutics: https://www.appliedtherapeutics.com/To join the conversation, follow Marc Beckman here: YoutubeLinkedInTwitterInstagramTikTok
Eight miles. Two friends. One cause.In this inspiring episode, Jacob Venditti opens up about his life with cystic fibrosis, offering candid updates on his health and the challenges he faces as he prepares for a lung transplant. He emphasizes the vital role of community support and shares how his work with the Live Fearlessly Foundation fuels his mission to empower others. Jacob also sheds light on the rare disease income threshold amendment he's championing, which aims to create more equitable opportunities for patients. The conversation builds toward his upcoming Crossing 4 CF event, showcasing his unwavering resilience and commitment to living fearlessly.The heartfelt conversation continues with Rob Brown. Rob talks about their upcoming 80-mile paddle race aimed at raising awareness for cystic fibrosis (CF). Jacob shares how open ocean paddling has become both a personal passion and a powerful way to connect with the CF community. Rob reflects on his enduring friendship with Jacob and their mutual love for surfing. Together, they highlight the healing power of the ocean—physically, mentally, and emotionally—especially for those living with CF. To connect with Jacob and his team: https://livefearlesslyfoundation.com 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
Professor Gareth Baynam is a globally recognised clinical geneticist, researcher, and advocate for rare diseases. He is the Director of the Rare Care Centre at Perth Children's Hospital and the Head of the Western Australian Register of Developmental Anomalies. With a career dedicated to improving the diagnosis, management, and care of individuals with rare and genetic conditions, he has been at the forefront of integrating cutting-edge technologies such as genomics, artificial intelligence, and precision medicine into healthcare. Professor Baynam is also a leader in Indigenous health initiatives, championing equitable access to rare disease diagnostics and treatment. Through his work with organizations such as the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease and the European Rare Diseases Research Alliance (ERDERA), he continues to drive global collaborations and innovations that aim to transform rare disease care.
We're honored to continue our global tour of medical education today with Professor Katarzyna Taran, MD, PhD, a pioneering interdisciplinary researcher of tumor cell biology, an award winning educator noted for her focus on student engagement, and -- in a first for a Raise the Line guest -- a shooting sports certified coach and referee. As Professor Taran explains to host Michael Carrese, these seemingly disparate professional activities require the same underlying attributes: patience, the ability to overcome barriers, openness and adaptation. She believes those last qualities are especially important for today's medical students to acquire given the accelerated pace of change in healthcare. “They need to be equipped with the ability for critical thinking, to analyze and synthesize, and to search for unconventional solutions.” Professor Taran tries to impart these skills, in addition to the medical and scientific knowledge students must know, through a high level of engagement. “Teaching is relational, so try to be familiar with students' concerns. Talk to them, listen to them and you will become someone they trust.” In this wide-ranging and engaging conversation, Professor Taran also discusses her work as the head of the Laboratory of Isotopic Fractionation in Pathological Processes in Chair of Oncology, the use of neurodidactics in teaching, and the connection between the science of pathology and the future of humans in space. Mentioned in this episode:Medical University of Lodz 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
In this special episode of the #BeyondHAE podcast, we hear from three passionate young advocates, Zach, Angel, and Arabel who took their voices to Capitol Hill during the EveryLife Foundation's Rare Disease Week events. Representing the HAEA community, they met with legislators to push for policies that improve the lives of people with rare diseases and their families.Tune in as they share their experiences from the event, discuss the importance of Rare Disease Day, and break down the key issues they advocated for. They'll also explore ways that you, no matter where you are, can get involved in rare disease advocacy from home.Join us for an inspiring conversation about the power of young advocates, the policies that matter, and the impact they hope to make for the HAE and rare disease community!This youth produced podcast is brought to you thanks to the support of the Hereditary Angioedema Association, a patient advocacy organization serving the needs of the HAE patient and caregiver community. To learn more about the HAEA and access our incredible support network, visit, www.haea.org.Thank you to our sponsors, KalVista and Pharvaris.
A few years ago we had the pleasure of speaking with Jonathan Ogurchak about the success of his company STACK. Now we have invited him back to see how the business has progressed and learn about his new venture, Zeal Specialty Pharmacy. As a pharmacist, Jonathan observed significant inefficiencies and a need to modernize processes. This set him on a course to develop and deliver better technology that would ultimately improve patient care. Today, he is a recognized serial entrepreneur, a leader in technology, and a man whose latest endeavor is centered on the delivery of medication to individuals with rare diseases. Here are highlights of our conversation: -An Update on STACK: The business has expanded its product offerings including a new product called On Queue, an operations workflow platform to enhance the pharmacy patient journey and capture valuable data. They now have customers in the US, Canada, Mexico, and Dubai. -Healthcare Compliance: STACK software helps organizations manage compliance by providing easy access to regulations for different states and purposes and automating processes for accreditation, compliance, and training for pharmacies. -Zeal's Branding Strategy: Jonathan explained the origin of the company name "Zeal" as a play on the term "zebra" in the medical community, representing rare and orphan diseases. The zebra also represents an effort to connect with patient communities through tasteful and purposeful branding. -Advice for Founders: Finding a mentor and maintaining a network for personal and professional growth is critical for new founders. He shared his experiences as a business owner and entrepreneur, highlighting the need to foster a healthy balance between work and personal life. He shared the significance of family and prioritizing time with loved ones, as businesses and jobs can change but family remains constant. -Building Culture: Jonathan discussed the pharmacy's leadership development initiative, which includes a book club focused on customer service and growth. He mentioned the book "Unreasonable Hospitality" and the Disney Institute program. Jonathan also shared that he encourages team members to explore different industries for innovative ideas. About the guest: Jonathan Ogurchak, PharmD, CSP, CPHIMS, is a specialty pharmacy veteran, having served in numerous roles across pharmacies, associations, and education for the last 15 years. Currently, he is the CEO & Founder of STACK, a software firm with two commercially available platforms: its namesake, STACK, a pharmacy information management platform designed to curate and organize information necessary to run successful pharmacies, professional associations, and higher education institutions; and OnQueue, a workflow platform built to optimize the patient journey for pharmacies and clinics. He is also the CEO and co-founder of Zeal Specialty Pharmacy, an independent rare-disease pharmacy leveraging both the above technologies to create the best experiences possible for patients, prescribers, and pharma partners across the country. Jonathan is an adjunct faculty through Duquesne University and the University of Pittsburgh, precepts pharmacy students virtually at 25 schools of pharmacy nationwide, focused on specialty pharmacy programs and processes, and his specialty pharmacy textbook is in pre-publication. Connect with Jonathan: Website: https://www.managewithstack.com/ Website: https://www.zealsp.com/ Connect with Allison: Feedspot has named Disruptive CEO Nation as one of the Top 25 CEO Podcasts on the web, and it is ranked the number 6 CEO podcast to listen to in 2025! https://podcasts.feedspot.com/ceo_podcasts/ LinkedIn: https://www.linkedin.com/in/allisonsummerschicago/ Website: https://www.disruptiveceonation.com/ #CEO #leadership #startup #founder #business #businesspodcast Learn more about your ad choices. Visit megaphone.fm/adchoices
Jennifer Finkelstein is not here for your pity, your pinkwashed slogans, or your performative awareness campaigns. She's a 20-year young adult breast cancer survivor who turned trauma into a blueprint for action and built 5 Under 40, a no-BS nonprofit supporting women diagnosed with breast cancer under 40.In this episode, we go full Gen X therapy session—from SNL nostalgia and cold caps to the absurdity of finding out you have cancer while looking for the remote. Jen drops real talk about founding a nonprofit when nothing existed for her age group, why mental health support isn't optional, and how passing down designer scarves can mean arming someone for battle.If you're looking for honesty, grit, and a few inappropriate jokes about gastroenterology, this one's for you. You'll laugh, you might cry, and you'll definitely leave knowing why Jennifer Finkelstein is a survivor, a fighter, and a damn legend.RELATED LINKS5 Under 40 FoundationJennifer Finkelstein on LinkedInAbout 5 Under 40: Board of DirectorsDan's Papers: 5 Under 40 Supports Young Breast Cancer SurvivorsFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.Let me know if you want shorter pull quotes, audiogram text, or promotional copy for LinkedIn, Instagram, or your newsletter.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Bobby Glen shares his family's journey, from getting a diagnosis to participating in a clinical trial, and the importance of early screening and community support. This is Part 1 of a two-part series about raising a child with HNRNPH2, a rare disease that affects speech and motor skills. Part 2 will feature his wife, Nicole, who reflects on how this experience has shaped her work as a pediatrician and her views on patient advocacy and communication differences like stuttering.If you'd like to reach out to Bobby, you can email him at glennrw@gmail.com.Support this podcast at — https://redcircle.com/proud-stutter/exclusive-contentAdvertising Inquiries: https://redcircle.com/brandsPrivacy & Opt-Out: https://redcircle.com/privacy
Host: Denise M. Dupras, M.D., Ph.D. Guest: Michael Zimmer, Ph.D., Director of Rare Diseases at Moderna Therapeutics This episode of Genes & Your Health welcomes Dr. Michael Zimmer from Moderna Therapeutics, who discusses how mRNA technology is being applied to treat rare genetic diseases, especially liver-based metabolic disorders. Dr. Zimmer explains how mRNA can help the body produce missing proteins, the challenges of delivering these therapies, and the promise they hold for previously untreatable conditions. Connect with us and learn more here: https://ce.mayo.edu/online-education/content/mayo-clinic-podcasts
Welcome to Episode 078 of the Beyond the Diagnosis Podcast. Listen in as Hank shares his courageous journey from being misdiagnosed, to finding his purpose in life to help others affected by histiocytosis in the most practical of ways. Instead of allowing his diagnosis to define him, Hank found deep purpose in reaching out to fellow patients and caregivers, participating in clinical trials, and pushing for legislative change in the world of rare disease. Join us as Hank shares how his faith, resilience, and relentless hope are helping to shape a better future for others living with histiocytosis. Let us know what you think! Leave us a review, drop us a comment or share an idea for a future podcast with us at podcast@histio.org. Take a screenshot and tag us @histiocytosis_association on Instagram. We'd love to hear your feedback! Be sure to subscribe so you can be notified the moment a new episode of Beyond the Diagnosis is released. We would love it if you would consider supporting this podcast financially so we can continue to bring you relevant and timely information while on your histio journey. To learn more visit https://podcasters.spotify.com/pod/show/histio/support Resources mentioned in the podcast: Patient Registries Information: Histiocytosis Follow-Up Study: email histio@uabmc.edu or call 866-438-1640 INTO-HLH Registry: www.hlhregistry.org Follow the Histiocytosis Association on social media: Facebook: https://www.facebook.com/histio Twitter: @histiocytosis Instagram: histiocytosis_association YouTube: https://www.youtube.com/histiocytosisassoc Music: “Heroes” by Noah Smith
What happens when a black belt, sword-slinging fitness icon gets cancer—twice? She picks up a camera and dares the universe to test her again.Ilaria Montagnani is not your average anything. She's been building strong bodies (and stronger minds) for over 30 years as the founder of Powerstrike. She's part Jane Fonda, part Uma Thurman, and very much the action hero you wish was your personal trainer.In this episode, we talk about what happens when everything you built your life on—movement, strength, purpose—gets sideswiped by disease. Twice. Ilaria opens up about diagnosis shock, bad doctor vibes, wielding swords post-mastectomy, and why working out through treatment is the best revenge.We get into scanxiety, menopause side effects, nutrition spirals, and the moment she realized the fitness industry needed more truth—and less bullshit.This one's real, raw, and will either guilt you into planking or inspire you to finally cancel that gym membership you've never used. Either way, you're gonna feel something.RELATED LINKSStronger for Life documentaryPowerstrike official siteIlaria on InstagramIlaria on LinkedInWorkout programs and DVDsForza Sword Workout on AmazonFEEDBACKLike 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.
This week Bobbi Conner talks with MUSC's Dr. Neena Champaigne about advances in treating rare diseases in children.
Today, approximately 10,000 rare diseases collectively affect as many as 400 million people around the world, and women leaders have long been at the forefront of bringing awareness to these diseases and driving change. Katie Couric moderates a panel that includes Tania Simoncelli of Chan Zuckerberg Initiative, whose “Rare as One” campaign gives to rare disease researchers and support groups, Tara Zier who founded the Stiff Person Syndrome Research Foundation, Susan Dando of the Smith-Kingsmore Syndrome Foundation, and Dr. Christina Miyake, a researcher studying TANGO2 deficiency disorder. This panel will explore the resilience, determination, and ingenuity required to address the unique challenges in rare disease advocacy and research. Panelists will share their experiences in breaking barriers, leading patient-centered initiatives, and building collaborations that move the needle toward treatments and cures. #SponsoredbyCZISee omnystudio.com/listener for privacy information.
We like to think of Osmosis from Elsevier as a global community of millions of learners, connected by a desire to serve humanity and an inclination to use a diverse mix of educational resources to help them become excellent healthcare practitioners. On today's episode of Raise the Line, we're going to learn how Osmosis has created an opportunity for hundreds of those students from sixty countries to actually solidify those connections through the Osmosis Health Leadership Initiative (OHLI). Our guide to this effort is Osmosis Community Specialist Alfred Collins, who brings a keen interest in developing tech solutions to power the future of human communication to his work with OHLI.“Technology collapses barriers to communication and to understanding the nuances behind culture, behind global perspectives,” he tells host Lindsey Smith. One example he cites is how OHLI members learn about variations in the way different cultures approach collaboration, an important insight to gain as they head into team-based healthcare environments. OHLI members convene regularly over video sessions to hear from leaders in healthcare and learn about hosting successful on-campus events, among other enriching content. They also have an opportunity to provide feedback on improving the Osmosis learning platform, and this year they're participating in a “hackathon” aimed at improving the future of healthcare. Tune in to find out more about what the OHLI program offers, how to apply, and how Alfred thinks virtual reality and AI technologies will impact the future of community building. Mentioned in this episode:Osmosis Health Leadership Initiative 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
This week on The Genetics Podcast, Patrick is joined by Kent Rogers, Chief Executive Officer at EveryONE Medicines. They discuss Kent's journey across every side of the desk in the drug discovery space, EveryONE Medicines' efforts to develop antisense oligonucleotides for ultra-rare diseases, and the need to adapt regulatory models for n-of-1 therapies.Show Notes: 00:00 Intro to The Genetics Podcast00:59 Welcome to Kent and his experiences across every side of the pharma ‘desk'06:00 Challenges of commercialization for ultra-rare disease therapies and the advantage of antisense oligonucleotides (ASOs) 10:28 EveryONE Medicines' approach to regulatory bodies12:30 Regulatory feedback and expectations from EveryONE Medicines' platform-based approach to n-of-1 therapies15:47 Differences in regulatory requirements for rare disease across countries 19:53 Insights from being on different sides of the drug development industry22:40 Differences in healthcare systems across countries that can facilitate or impede drug development26:57 Rationale behind focusing on ASOs for treating rare diseases 28:03 Building EveryONE Medicines and Kent's approach to leadership33:20 Lessons from Kent's career37:17 Closing remarks Find out moreEveryONE Medicines (https://www.eomeds.com/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
What if every milestone your child was supposed to reach came with countless curve balls? For Alexis Kaplan, motherhood quickly turned into a journey of advocacy, strength, and unwavering love as she navigated her daughter Gabby's complex and rare health conditions. In this moving episode, Alexis shares: ✅ The moment her newborn was rushed to the NICU with a collapsed lung ✅ How her daughter's recurring infections led to a diagnosis of immunodeficiency and collagenous gastritis ✅ The emotional toll—and strength—of being the medical historian and advocate for a medically complex child ✅ How weekly infusions, therapy, and figure skating are helping her daughter thrive ✅ Her advice for parents facing rare, chronic, or undiagnosed conditions This is a must-listen for anyone caring for a child with complex medical needs, healthcare providers who want to better understand the family perspective, and parents looking for inspiration and connection. Timestamps & Key Topics ⏱️ [00:00] – Meet Alexis Kaplan Mother of two, former PR pro, and fierce advocate for her daughter Gabby ⏱️ [03:00] – From a Healthy Start to a Medical Emergency Gabby is born with a spontaneous pneumothorax and was immediately taken to the NICU ⏱️ [08:00] – Life After NICU The strange silence in the hospital room and the emotional weight of an unexpected start ⏱️ [10:00] – Feeding Struggles and Early Signs Something Was Wrong Eczema, weight loss, food intolerance—and a mother's instinct in full force ⏱️ [14:00] – The Fevers Begin Raging fevers, unrelenting illness, and a trip to the ER that revealed double pneumonia and RSV ⏱️ [19:00] – ENT Visits, Hearing Loss, and the Power of Child Life From audiology tests to the first Barbie from a Child Life Specialist—how support changed their hospital experience ⏱️ [22:00] – Asthma, Immunology & The First “Red Flag” Gabby's pulmonologist recommends deeper testing, leading to a pivotal moment in her diagnosis journey ⏱️ [24:00] – Periodic Fever Syndrome & Tonsillectomy A working diagnosis leads to aggressive treatment—but symptoms persist ⏱️ [26:00] – Gastroenterology, Scopes & the Search for Answers A rare diagnosis: collagenous gastritis—so rare, the doctor had never seen it before ⏱️ [29:00] – The Diagnosis That Changed Everything Immunoglobulin deficiency is confirmed, leading to weekly subcutaneous infusions at home ⏱️ [31:00] – A Grey's Anatomy Ritual & Finding Control Gabby takes charge of her infusions, watches Grey's Anatomy, and finds a routine in the chaos ⏱️ [32:00] – Advocating for the Right Medication Alexis does her own research and fights for biologic treatment to manage Gabby's symptoms ⏱️ [34:00] – Reflecting on Strength, Resilience & Motherhood The mental toll of advocating, comforting, and never giving up—and watching her daughter skate through it all ⏱️ [36:00] – TikTok Tips & Empowerment in the Hospital Line Gabby empowers other kids at the clinic with simple strategies to get through shots and IVs ⏱️ [37:00] – Final Reflections: Curveballs, Advocacy & Support How Facebook groups, therapy, and the power of asking questions help Alexis keep going Resources & Links
Send us a textIn this episode, we sit in on the Rare Advocacy Exchange virtual series. Global Genes is hosting this series in an effort to empower rare disease leaders. As moderator, I facilitated a panel that focused on the challenges and rewards of leading in the rare disease space.The conversation covered the importance of community, collaboration, and using personal experiences to drive change. Panelists shared their journeys of advocacy, highlighting how moments of isolation became opportunities to connect and push for change.This episode is a must-listen for anyone passionate about rare disease advocacy, offering inspiration and insights for creating meaningful impact.Episode Resources: Parenting Differently When You Expect A Shorter Life with Daniel DeFabioGlobal GenesGlobal Genes: Rare Advocacy ExchangeCure DHDDSConnect with Kara, host of The Special Needs Mom Podcast:Instagram: https://www.instagram.com/thespecialneedsmompodcast/Website: https://www.kararyska.com/Join the Community:Pathway to Peace Coaching Community is currently open for enrollment. Instantly get access to authentic community and weekly coaching! Give yourself the gift of growing alongside moms who deeply understand you and will be with you in your joys and sorrows. --------> Learn More HERE
Helene M. Epstein is not here to make friends with the healthcare system. She's here to dismantle the bullshit, one catastrophic medical error at a time. A marketing agency veteran turned patient safety firebrand, Helene's journey from copywriter to cancer misdiagnosis survivor, to “badass queen of patient safety,” is one hell of a ride.We talk about how her son was misdiagnosed over 15 times (yes, really), why some doctors should come with warning labels, and how American healthcare gaslights patients like it's a competitive sport. She also explains why she's giving away her new book for free, one chapter at a time, and how AI might actually be useful—if it stops hallucinating citations.This is not a light listen. It's the real deal. You'll walk away angry, inspired, and a lot more dangerous as a patient.RELATED LINKSHelene's Substack: https://helenemepstein.substack.comPatient Safety Resources: https://www.pfps.usSociety to Improve Diagnosis in Medicine: https://psnet.ahrq.gov/issue/society-improve-diagnosis-medicineHelene's Website: https://www.hmepstein.com/meet-heleneLinkedIn: https://www.linkedin.com/in/hmepsteinFEEDBACKLike 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.
There are over 7,000 rare diseases, and up to 30 million people in the U.S. are fighting one of these diseases every day, many of them children.
Federal funding impacts to research for rare diseases. Also, the podcast “This is What it Feels Like” launches season two. Finally, the Women's Theatre Collective's new musical “The Hello Girls.” Rare Disease Federal Funding Cuts
Most Medical Affairs leaders know the truth: Counting MSLHCP interactions is easy, but it's meaningless. Vanity metrics are holding Field Medical back. In this episode of Transforming Medical Communications, Wesley Portegies is joined by Denise Clark, Regional Medical Director of the Rare Disease team at Amgen, to show you what to measure instead and how to finally prove your team's real impact. Denise brings a bold, disruptive perspective: activity is not impact. This conversation gives you the modern Field Medical playbook. It's not about doing more. It's about doing what moves the needle.
"I got in a lot of trouble and so I will never forget my attending said you will never keep the lights on if you practice like that."This episode is with Dr. Lauren Hughes who is a primary care pediatrician in Kansas City.In this episode we talk about:- Having kids in residency and how this might have been the worst time to have kids but there's also no good time- Having a baby intern year and then having twins in March 2020, a few months before she was going to finish residency and start her own practice- Her breastfeeding story and how it inspired her to get extra training in lactation medicine- Being a physician and caring for a child with a rare disease (her son has MCAD where he is missing an enzyme that converts fat to sugar)- The inspiration behind opening her own direct primary care practice- Operationally what it looks like to run a direct care practice and how this differs from a concierge practice- How she got started on social media and what she uses it for today- and so much more! Connect with Moms of Medicine:- Instagram @moms_of_medicine- Momsofmedicine@gmail.comConnect with Dr. Hughes:- Instagram @bloomdpc- drlaurenhughes.com
RARE MAMAS RISING- EPISODE 48 Spring Cleaning: Letting Go of Things That No Longer Serve Us with Rare Mama Nikki McIntosh In this uplifting episode of Rare Mamas Rising, Nikki invites you to embrace spring's renewal by letting go of what no longer serves you—draining digital habits, old stress loops, unhelpful routines, and even relationships or thoughts that weigh you down. With personal insights and actionable steps, she guides Rare Mamas through clearing the clutter—mental, emotional, and physical—to make space for peace and strength. Tune in to discover how shedding these burdens can lighten your load and lift you up, because as spring blooms, so can we. 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
Jonathan and Jennifer Wall didn't choose this path, but they're walking it with purpose. After losing their son, Zach, they turned their grief into action, founding Zach's Bridge, a lifeline for families navigating pediatric cancer. This episode isn't about platitudes or silver linings—it's about the raw, unfiltered reality of love and loss, the relentless unfairness of childhood cancer, and how the Walls are refusing to let their son's memory fade into the void.Jon and Jenn open up about what Zach taught them, how they've reshaped their lives in his honor, and why “Be Like Zach” isn't just a phrase—it's a call to action. We talk about the power of community, the frustrating gaps in pediatric cancer care, and how they're making sure no other family has to walk this road alone. If you've ever wondered what real resilience looks like, this is it.RELATED LINKS:Zach's BridgeZach's Rules for LifeBe Like Zach - SubstackJonathan Wall on LinkedInJon's Post: What Cancer Taught Me About WorkRett's Roost Blog - Jonathan's WritingZach's Story - OSIFEEDBACK:Like 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.
Adam Cox hosts a special episode of 'Under the Skin', and he is joined by Chirs Griffiths OBE. This episode looks at highlighting the effects of people living with Epidermolysis Bullosa, the condition, treatments, drug breakthroughs as well as discussing other skin conditions. https://www.debra.org.uk/
David Game remembers the days when the use of digital technology in education publishing amounted to putting a dictionary on a compact disc. Now, as the senior vice president of Product Management, Global Medical Education at Elsevier, he oversees a suite of learning materials that use artificial intelligence, virtual reality and 3-D modeling. “We've expanded into immersive technology with Apple Vision Pro that enables you to be inside the human body, to see and explore the human heart from the inside out and it is absolutely stunning,” says Game, whose long career in publishing includes experience in North America, the United Kingdom, Europe, China and India. As Game has witnessed first-hand, advancements in ed tech, including distance learning, have provided students with an array of options and modalities to choose from that accommodate different learning styles and life circumstances, and that puts a premium on being able to meet students where they are. “We want to make sure that students find learning from our materials engaging, efficient, and aligned with how they live their lives and do their work.” Join host Lindsey Smith for this fascinating episode of Raise the Line to learn how Elsevier is leveraging the innovations offered by Osmosis, Complete Anatomy and ClinicalKey Student to enrich the learning of medical students on their journey to becoming excellent clinicians.Mentioned in this Episode:Complete AnatomyClinicalKey StudentOsmosis 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
Being a rare disease parent means living in a world of unpredictability—and in this powerful follow-up episode, Jessica Troiano shares what that really looks like. From a terrifying recent emergency surgery to the countless difficult decisions she's had to make over the years, Jess opens up about the emotional and mental toll of parenting a medically complex child. She talks about the weight of advocacy, the fear of the unknown, and how every choice—big or small—can feel overwhelming when your child has 15 medical diagnoses. But even through the hardest moments, she continues to find strength, hope, and deep love in the journey. Sponsored by Adirondack Trust and Amsure, this episode is a raw and honest look at the side of parenting we rarely hear about. https://www.adirondacktrust.com 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 #raredisease #rarediseaseawareness #rarediseases #griefandloss #medicallycomplex Learn more about your ad choices. Visit megaphone.fm/adchoices
A groundbreaking AI application helped pull a hospice-bound patient back from the brink by identifying an unexpected treatment for a rare disease. By analyzing thousands of existing medications for potential side effects that could treat idiopathic multicentric Castleman's disease, researchers discovered a path to remission that human analysis might have missed. This remarkable story highlights AI's potential as a powerful medical tool when used to augment human expertise rather than replace it.Meanwhile, privacy concerns take center stage as 23andMe secures court approval to auction off customer DNA data despite growing protests. State attorneys general are warning consumers to delete their genetic information before the sale completes, raising fundamental questions about data ownership and personal privacy in our digital economy. Could this case establish a dangerous precedent for how companies handle our most sensitive biological information?The episode takes a fascinating detour with guest Elizabeth Bieniek, who shares insights from her journey developing WebEx Hologram at Cisco. Her book "Cake on Tuesday" offers 25 lessons for driving innovation within large corporations, distilling years of experience into practical advice for anyone looking to champion new ideas in established organizations. Biennik's approach to creating holographic collaboration technology demonstrates how visionary thinking can thrive even within corporate structures.We also explore Signal, the encrypted messaging app making headlines for its use by government officials. With features like automatic message deletion and capacity for 1,000-person group chats, this technology raises important questions about security protocols and information preservation within official channels.From life-saving AI applications to privacy threats, holographic meetings to secure messaging, this episode examines how technology continues to transform our world in both promising and concerning ways. Has a medical breakthrough changed your perspective on AI's potential benefits? We'd love to hear your thoughts!Support the show
"We followed Dahlia's lead—and Dahlia was not going to let this stop her.” — Jessica Fein What happens when your child's diagnosis is so rare that no one—including your doctors—knows how to help? For Jessica Fein, navigating life with her daughter Dahlia's MERRF Syndrome meant redefining motherhood, finding joy in unexpected places, and transforming grief into connection and advocacy. In this honest and deeply moving episode, we explore: ✅ What it's like to go on a diagnostic odyssey, and finally get answers that bring more questions ✅ The complexity of parenting a child with medical needs, including the realities of home care and hospital stays ✅ How grief exists even while your child is alive—and what ambiguous grief means for medical parents ✅ The power of storytelling, finding meaning through writing, and connecting with community through shared experience Whether you're a parent, provider, or someone looking to better understand the emotional layers of complex care and rare disease, this episode will resonate with you. Timestamps & Key Topics ⏱️ [00:00] – Episode Intro Meet Jessica Fein and hear the quote that shaped this conversation ⏱️ [01:00] – Jessica's Story Begins Navigating the early years of parenting without answers ⏱️ [03:00] – Diagnosis & the Unknown The journey to a MERRF Syndrome diagnosis and what came next ⏱️ [09:00] – Life With a Rare Disease Hospital stays, trachs, and becoming the expert in your child's care ⏱️ [13:00] – Following Dahlia's Lead Letting joy and silliness guide the way ⏱️ [17:00] – Who Dahlia Was A peek into Dahlia's personality and how she impacted everyone she met ⏱️ [20:00] – Writing As Healing How Jessica turned to writing as an act of reflection, advocacy, and self-care ⏱️ [24:00] – What Helps in the Hospital Tangible ways friends and providers can support caregivers ⏱️ [30:00] – Grief, Then and Now Understanding ambiguous grief—and the evolution of loss after death ⏱️ [33:00] – How to Connect With Jessica Where to find her book, podcast, and writing Resources & Links from today's episode:
Sarah Armstrong—forever Sarah Oakden to me, no matter what the legal documents say—isn't just my best friend. She's my first college friend, my musical theater soulmate, and the first person who truly saw me as an artist. She was there when I walked onto Binghamton's campus, and she was there when I walked into cancer hell. And, because we're nothing if not in sync, a few decades later, she got her own cancer badge of honor, and I was right there with her every step of the way.This episode is a love letter to friendship, music, and those moments that change your life forever. We nerd out over Sondheim, Binghamton's infamous "Theater 101 with Dr. Susan Peters." and the weird and wonderful rabbit holes that turn into entire alternate realities across decades of aging gracefully and falling with style.We talk about how cancer is the worst club with the best people and how surviving it together just adds another verse to the song we've been singing for 30 years. It's funny. It's real. It's a master class in love, laughter, and musicals that should have been bigger; with a big tip of the hat to Nancy Ford and Gretchen Cryer for their acclaimed musical "I'm Getting My Act Together and Taking It on the Road"Oh, and RIP to the legendary Denny's on Vestal Parkway. You will be missed.FEEDBACK:Like 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.
26.2 miles of good vibes
Food for Thought: Cancer, Calories, and Kicking AssVanessa Rissetto is back, and she's bringing the same energy, wit, and unapologetic realness that made her a fan favorite. Last time, we talked nutrition and the rise of Culina Health. This time, life threw her a plot twist—breast cancer. Because, you know, irony.Vanessa was busy building a nutrition empire when she got diagnosed. So, naturally, she texted, “WTF do I do now?” to her closest cancer Sherpas—yours truly included. Spoiler alert: She powered through, beat cancer, and kept scaling Culina Health to new heights.We get into it all—being a cancer patient when you're supposed to be the health expert, the emotional whiplash of survivorship, the absolute clown show that is American food regulation, and why European Oreos are apparently less cancerous than ours. Also, parenting, loneliness, and why the healthcare system still makes zero sense.Get ready for a wild ride of truth bombs, wisdom, and laughter with one of the sharpest voices in nutrition and entrepreneurship.RELATED LINKSVanessa on LinkedInCulina HealthVanessa's WebsiteVanessa's Story on HLTHVanessa on Breast Cancer - TODAYWhat Vanessa Learned About Food After CancerDaily Mail: Vanessa on an Unexpected SymptomSurvivorNet: Vanessa on Nutrition and CancerFEEDBACKLike 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.
"What we realized was that rare isn't as rare as we think—there are so many of us out here searching for answers, fighting for our kids, and trying to make a difference."- Maria Granados We extend our sincere gratitude to our sponsor for this episode, Gebauer PainEase®. We are pleased to provide more information about this product, and we invite you to learn more by visiting their website. What if a simple miscommunication in the hospital could have cost your child their life? For Maria and Matt Granados, parents of a daughter with Pyroxd1, that terrifying moment led to a groundbreaking realization—and a mission to help other families facing rare diseases. In this powerful episode, we dive into: ✅ The challenges of diagnosing and living with Pyroxd1, a rare neuromuscular condition ✅ A near-fatal hospital mistake that could have changed everything ✅ How they turned their personal struggles into Take Part Foundation, a nonprofit funding rare disease research ✅ The power of storytelling, advocacy, and community for families navigating the unknown Maria and Matt's story is one of resilience, innovation, and advocacy, proving that "rare is more common than you think." Whether you're a rare disease parent, medical professional, or someone looking for inspiration, this episode is a must-listen. Timestamps & Key Topics ⏱️ [00:00] – Episode Intro Welcome to today's episode featuring Maria & Matt Granados Why raising awareness for Pyroxd1 is so important ⏱️ [01:00] – Meet Maria & Matt Their family's journey: married 9 years, three kids, and an entrepreneurial spirit How flexibility in work became essential for parenting a child with complex medical needs ⏱️ [03:00] – The Start of Their Rare Disease Journey Pregnancy and early signs something was different with Natalie The challenges of getting doctors to take concerns seriously Being told “don't worry” for a year—while their instincts said otherwise ⏱️ [09:00] – The Thanksgiving Hospital Crisis That Changed Everything Natalie's sudden health decline and emergency hospitalization The shocking realization that hospitals don't share medical records effectively How a simple website they built saved Natalie's life by preventing a life-threatening medication error ⏱️ [13:00] – Turning Their Experience Into a Mission How their frustration with the system led them to found Take Part Foundation Why families need access to their child's full medical history The power of self-advocacy in rare disease care ⏱️ [24:00] – What Is Pyroxd1? Understanding This Rare Condition A breakdown of what Pyroxd1 is and how it affects the body The difficulty of finding a diagnosis and why many families go undiagnosed ⏱️ [30:00] – The Reality of Rare Disease Research & “Death Valley” Funding The shocking truth: 95% of rare diseases have no FDA-approved treatment Why promising research often stalls due to lack of funding How Take Part Foundation provides grants to researchers in need ⏱️ [38:00] – How Take Part Helps Families Get Genetic Testing Many families can't afford genetic testing—so Take Part is filling the gap The impact of a diagnosis on getting insurance coverage for therapies and equipment ⏱️ [44:00] – Strengthening Their Marriage Through the Rare Disease Journey The emotional toll of raising a medically complex child The mindset shift that saved their marriage: “If Natalie's not offended, I don't need to be offended.” The importance of seeing doctors as humans, too ⏱️ [50:00] – Let Your Fight Shine: A Message for Other Rare Parents Maria's beautiful perspective on embracing the fight instead of hiding it Why advocacy is the most powerful tool rare disease parents have ⏱️ [52:00] – Where to Find Maria & Matt + How to Support Take Part Foundation How to get involved, donate, or apply for support Why storytelling is a crucial part of the rare disease journey Final words of encouragement for other families Resources & Links
Send me a Text Message about the show!I'm a little late to highlight rare disease month. Technically, the month of February traditionally is Rare Disease awareness month with Rare Disease Day falling on February 28th. But, sadly, as is happening with so many awareness months and days in the US, the FDA/NIH planned 2 day meeting focused on Rare Disease Day on 2/27 and 2/28 was cancelled this year. So, I guess I'm not too late after all, and instead I'm declaring today, the day you are listening to this podcast to be Rare Disease Day. A day to raise awareness for the 300 million people world wide living with a rare disease. A rare disease is when a disease affects fewer than 1 in 2000 people. And that rareness causes significant challenges. A lack of scientific knowledge and study about these diseases can make diagnosis more difficult. Many people with a rare disease spend a long time being misdiagnosed and therefore unable to access the types of treatments or support best suited for their actual disease. Funding for research can be harder to find when you are studying a disease that impacts a smaller proportion of the population. And yet, that smaller proportion does not make the difficulty of living with a rare disease any easier. So awareness is incredibly important, to bring attention to those with rare disease, to create support and community, and to encourage research. And today, I have two women as my guests on the show that are living with a rare disease.Avery Roberts resides in New York, and is a wearer of many hats — an advocate, dancer, foodie, and avid traveler. She was the first wheelchair user to perform on the great stage of the world-renowned Radio City Musical Hall in New York City, as well as, separately, among the first few wheelchair users to feature in a nationally televised live production, where she appeared as a dancer.Kelly Berger resides in Cincinnati, Ohio, and is a passionate advocate for rare disease, winning a 2024 RareVoice Award. She adores live music and is always attending a concert, typically driving states away to see her favorites. Kelly utilizes her adapted mobility van as her means of independence fueling her thirst for constant travel adventures—she's explored over 40 states and counting.They both have Congenital Muscular Dystrophy or CMD for short and they both were recently on Capitol Hill lobbying for Rare disease the last week in February. We talk about rare disease, the challenges facing those in the disability community, and the importance of having a seat at the table.Resources mentioned in this episode:Rare Disease AwarenessCongenital Muscular DystrophyAll Wheels UpSupport the showKeep up with all things WeSTAT on any (or ALL) of the social feeds:Instagram: https://www.instagram.com/westatpod/Threads: https://www.threads.net/@westatpodFacebook: https://www.facebook.com/westatpod/LinkedIn: https://www.linkedin.com/company/westatpod/Twitter: https://x.com/WeSTATpodHave a topic or want to stay in touch via e-mail on all upcoming news?https://www.westatpod.com/Help monetarily support the podcast by subscribing to the show! This is an easy way to help keep the conversations going:https://www.buzzsprout.com/768062/supporters/new
EPISODE DESCRIPTIONLillian Kreppel doesn't hold back. A seven-year anal cancer survivor and co-founder of the HPV Cancers Alliance, she has made it her mission to challenge stigma, fight misinformation, and push for better awareness of HPV-related cancers. In this episode, she sits down with Matthew Zachary to talk about her journey from high-powered sales to full-time advocacy, the absurd misconceptions surrounding HPV, and why more doctors should be doing rectal exams—but aren't. With her signature humor and relentless drive, Lillian shares how she turned her diagnosis into a movement, what it takes to make people uncomfortable for the right reasons, and why she refuses to stop talking about the HPV vaccine. It's an eye-opening, unfiltered, and surprisingly hilarious conversation about a serious issue too many people ignore.RELATED LINKSHPV Cancers Alliance: https://hpvca.org/Lillian's Story (MSKCC): https://www.mskcc.org/experience/hear-from-patients/lillianInterview on HPVWorld: https://www.hpvworld.com/articles/anal-cancer-and-hpv-a-history-of-awareness-and-stigma-interview-with-lillian-kreppel/Speaking With Lillian Kreppel (Ask About HPV): https://www.askabouthpv.org/stories/speaking-with-lillian-kreppel-co-founder-of-the-hpv-cancers-allianceEuropean Cancer Organization Feature: https://www.europeancancer.org/content/lillian-kreppel.htmlAnal Cancer Survivor Feature (Patient Resource):https://www.patientresource.com/Anal_Cancer_Survivor_Lillian_KreppelFEEDBACKLike 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.
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