As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong. more

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast 'DNA Today' has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner***Learn more (and stream all 300 episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com. more

Casey Cassandra are a pair of best friends with the same rare disease. Their goal is simple: sharing their lives to showcase the beauty and normalcy in disability, while having fun together. They'll also touch on accessibility, friendships, style, and everything in between as they live their best, rare, lives! more

The Pickle Jar Podcast is a platform created to educate and advocate for people living with adrenal insufficiency.The host Jill with diagnosed with primary adrenal insufficiency, Addison's disease in 2011. Her dad also suffered from the illness and died from an adrenal crisis 6 yrs before her dx.People living with Addison's disease are lost in a shuffle of lack of knowledge and support in the medical community. We are desperate for a means to connect, share, validate our journeys and improve our quality of life.We deserve to have a voice and THE PICKLE JAR PODCAST is that voice. more

Join me every week as I navigate the ups and downs, and everything in between of the crazy stressful, but always beautiful life of being a rare disease parent. more

I'm Aware That I'm Rare: the phaware® podcast is devoted to raising global pulmonary hypertension awareness with dynamic stories from PH patients, caregivers and medical professionals from around the world. Through this series of impactful, insightful and, most importantly, hopeful stories from members of the global pulmonary hypertension community, we hope to further the global #phaware conversation as well as to capture, engage and enable misdiagnosed and undiagnosed PH patients because early diagnosis and treatment can mean the difference between life and death. Topics range from the importance of early diagnosis and global PH awareness, to the impact of clinical trials to how patient support and advocacy are paramount to battling this disease. Learn more about PH at www.phaware.global more

RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy. more

The FSR Sarc Fighter Podcast is about dealing with Sarcoidosis. Whether it's a patient, healthcare provider, researcher, or a team member from the Foundation for Sarcoidosis Research, the Sarc Fighter podcast provides hope and perspective on this rare disease. Professional journalist and fellow sarc fighter John Carlin hosts the podcast. more

À propos : 'RARE à l'écoute' est un podcast dédié à la sensibilisation aux maladies rares et au soutien des personnes touchées par ces affections. Créé par un groupe passionné de professionnels de la santé, le podcast vise à informer les professionnels de santé et fournissant des informations sur les dernières avancées médicales et scientifiques dans le domaine des maladies rares, et inspirer les patients et leurs proches en partageant des histoires de courage et de persévérance.Contenu : ? 'RARE à l'écoute' sensibilise les professionnels de santé et le grand public aux maladies rares pour faciliter leur repérage et leur dépistage. ? Pour chaque maladie rare, quatre épisodes font intervenir des médecins experts, le dernier épisode est consacré à un témoignage de patient. ? Le podcast aborde des sujets tels que les dernières avancées de la recherche, les types de traitements disponibles et les défis quotidiens auxquels les patients et leurs familles sont confrontés.Objectifs : ? Offrir un contenu pédagogique et accessible à tous. ? Guider les auditeurs vers une meilleure compréhension des maladies rares, leurs symptômes et les options de prise en charge.Format : ?️ Interviews de médecins spécialistes des maladies rares, chercheurs, et représentants d'associations de patients. ? Témoignages inspirants de personnes confrontées à des maladies rares.Contact : ? Email : podcast@rarealecoute.com ? Site web : www.rarealecoute.com ?Réseaux sociaux : Suivez-nous pour de nouveaux épisodes et le décryptage de nouvelles maladies rares sur :Instagram : https://www.instagram.com/rarealecoute.podcast/?hl=frLinkedIn : https://www.linkedin.com/company/rarealecoute/?viewAsMember=trueFacebook : https://www.facebook.com/people/RARE-à-lécoute-Podcast/100063855331166/X : https://twitter.com/EcouteRareAutres podcasts : ? Si vous êtes passionné par la santé, découvrez nos autres podcasts : La Minute Rhumato, La Minute Néonat, La Minute du Pancréas, La Minute Dialyse, Méta Cast (cancer du sein)...RARE à l'écoute est là pour répondre à vos questions sur les maladies rares. Rejoignez-nous et ensemble, faisons entendre ces voix trop souvent oubliées. more

Interviews with patients, clinicians, advocates, students, researchers focusing on rare disease in clinical medicine. This podcast is brought to you by Medics4RareDiseases who are asking medical professionals to #daretothinkrare in order to improve diagnosis, clinical care and research in this neglected but really important field of medicine. 3.5 million people in the UK live with a rare disease so while each disease is individually rare, together rare diseases are common.Podcast distributors create their own transcripts and M4RD doesn't take responsibility for them more

A podcast for mothers of children with rare diseases to find support, advice, community, and hope! Join Rare Mamas founder and podcast host, Nikki McIntosh as she talks with remarkable rare moms rising from difficult diagnoses for their children. Catch an episode of Rare Mamas Rising and walk away encouraged, uplifted, and empowered! more

News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases. more

SYNGAP1-related disorders is a rare disease that affects Ashley Frye's son Nathan and Rainy Schlosser's daughter Hope. As of January 1, 2025, there are only 1,530 people in the world diagnosed with SYNGAP1. There is no cure. In each episode of SYNGAP1 Stories, first developed by Ashley and continued by Rainy, we will chat with SYNGAP1 parents, volunteers, caregivers, researchers, and partners about their journey with SYNGAP1 in their lives. Their joys and successes, as well as heartaches and advice, will be discussed in this heart-warming series as we support the SYNGAP1 community. more

Welcome to Few & Far Between! Chris O'Brien, CEO of Biorasi, is your host for Conversations from the Front Lines of Drug Development - from clinical research and policymakers to biotech innovators and industry leaders. more

Welcome to P4A Let's Talk Rare, a monthly podcast highlighting the most important developments in the world of rare diseases orphan drug, cell and gene therapy, hosted by Georgie Rack and Owen Bryant of Partners For Access. To find out more about Partners For Access and our commitment to sustainable orphan drug access for patients with high unmet need, visit partners4access.com more

A EURORDIS-Rare Diseases Europe podcast on the experiences, challenges and successes of people living with rare diseases. Julien Poulain, Communications Manager at EURORDIS, meets with people who share their unique experiences of living with a rare disease, those who advocate for them, and experts on rare disease policy. Email the EURORDIS Rare on Air team at: rareonair@eurordis.org. more

We are living 'A Rare Reality' and we want to tell you all about it! Join Jordan's Guardian Angels as we cover dozens of topics in the rare disease space and give you a closer look at our groundbreaking research into Jordan's Syndrome that could one day change the world. We want to uplift, advocate, motivate and inform. more

Visibiliser l'Invisible au travers de témoignages uniques et singuliers c'est la vocation première du podcast Les invisibles ! Maladies invisibles, maux et expériences invisibilisés... Pour des raisons individuelles, les corps, les esprits et les sociétés invisibilisent des expériences vécues. Dans ce podcast, crée par Tamara Pellegrini, la tengeante s'inverse. La parole est donnée aux personnes qui vivent avec ce qui ne se voit pas.  Diffuser ces espaces de paroles c'est :sensibiliser aux vécus invisibilisés permettre de se reconnaitre et s'identifier aux histoires des autrescréer des groupes d'échanges et de soutiensensibiliser l'entourage (familial, amical, médical)offrir des outils pour une meilleure qualité de vie Tamara Pellegrini, créatrice de ce podcast, vit avec une maladie neurologique invisible. Elle est l'auteure du livre 'Ma maman vit avec une maladie invisible, mais moi je la vois !' qui aborde la maladie d'un parent avec simplicité et poésie aux enfants dès 3 ans. Retrouvez nous sur Instagram : @les_invisibles_podcast pour recevoir toutes les info en avant première et échanger avec la communauté ! Bonne écoute ! Hébergé par Ausha. Visitez ausha.co/fr/politique-de-confidentialite pour plus d'informations. more

I quit my law job to be at home with my kids. Turns out our daughter Tess has a rare genetic disorder called Hao-Fountain Syndrome, or USP7. She's different. And now, so is everything else. #USP7 #HaoFountainSyndrome #autism more

The 2DD podcast is about setting sights beyond the challenges in your life and dreaming big, making a plan, and then executing like mad. You are guaranteed an emotional rollercoaster, and practical thoughts that you can apply to your life with this podcast.Hosts Sean and Kyle are both affected by a rare disease called Friedreich's ataxia (FA). FA affects their balance and coordination, significantly limiting their physical abilities. However both dudes have completed several long distance bike rides including 'The World's Toughest Bike Race' - Race Across America (RAAM). Their RAAM journey is the subject of an award winning documentary called The Ataxian. Kyle rode his trike to the top of the highest paved road in North America and Sean ran with the Olympic Torch.Join us, subscribe, and tell a friend! more

The goal of my podcast is to have a central place for people afflicted with Scleroderma and a place for their families and friends to be informed by specialists in either Scleroderma or autoimmune topics. I will cover a wide range of topics like nutrition, medications, vitamins, and lifestyles. I will also showcase stories from others affected by Scleroderma and how they have dealt with the disease. For additional information you can visit my website-Mogilsmobcast.com, or follow me on Instagram-mogilsmob and Facebook mogilsmob more

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast. more

Being diagnosed with an uncommon cancer like a neuroendocrine tumor (NET) can feel isolating or overwhelming. Listen in as the NET Research Foundation (NETRF) speaks with experts and patients who will help us to understand NET diagnosis, treatment, and everything in between. NETWise is for everyone, from newly diagnosed patients to longtime survivors as well as caregivers and family members. This is your guide to learning, listening, knowing, and being NETWise. more

The Foundation Fighting Blindness is the driving force in the global development of treatments and cures for blinding diseases. To learn more, go to FightingBlindness.org. more

Lupus LA enters the fastest growing media market with the new Your Story Our Fight® podcast which will give a voice to lupus patients while continuing Lupus LA's mission to raise lupus awareness worldwide. Hosted by the Chairman of Lupus LA and lupus patient himself, Adam Selkowitz, patients from all walks of life will share stories about their unique lupus journeys. With a focus on inspiration and hope, Lupus LA's podcast will provide support and optimism to a patient community looking for assurance that they are not alone. more

The BeyondHAE Podcast is a series dedicated to amplifying the voices of young people affected by Hereditary Angioedema and raising awareness about the disease. Hear from a different host each episode as they share stories of perseverance, activism, and support. We hope that you find strength in listening to stories from HAEA community members. Everyone has a story and this podcast series is just that, an opportunity for young people affected by HAE to share their unique stories with you! Visit www.haea.org for Hereditary Angioedema support, information and resources. more

Each week, MIB Agents talks with the leaders and innovators in osteosarcoma surgery, research, treatment and advocacy. Questions are taken during the webinar and are included in each podcast. More information is available at www.mibagents.org more

Retina UK supports people affected by inherited progressive sight loss and invests in medical research to ensure that people an lead a fulfilling life, now and in the future. more

Explore the untold stories of females impacted by X-linked conditions. Hosted by Emma Bliss and Taylor Kane of Remember The Girls, 'collectively coeXisting' brings to light the reality of being a female impacted by an X-linked condition and the general challenges women face within the healthcare system.Hear from X-linked carriers and affected females about their journeys with genetic testing, family planning, physical symptoms, mental health, and everything in between. Also learn from experts about topics such as carrier screening, genetic counseling, advancements in research, and more. more

Daily, digital coverage of the latest SMA news and perspectives.

The Beyond the Diagnosis podcast was created by the Histiocytosis Association to give patients, families, caregivers and other members of the Histio Community the opportunity to have access to another educational resource to help them on their histio journey. The podcast provides an additional platform by which listeners can consume information while on the go or if unable to remain in front of a computer for an extended period of time. more

Eosinophils are a type of white blood cell that play a role in immune responses and help fight off infections. When these cells build up and cause inflammation in the digestive system, tissues, organs, and/or bloodstream, without a known cause, it may be the result of an eosinophil-associated disease. Join the American Partnership for Eosinophilic Disorders (APFED) for a series of conversations with researchers, clinicians, patients, and other community members as we discuss practical strategies for disease management and treatments, research, and other topics of interest. more

NCAN has produced conferences for NET patients for over 15 years - conferences that help keep you up to date on issues impacting your care like new diagnostics and treatments. Now you can tune in to a monthly podcast featuring interesting insights and stories from thought leaders and personalities in the neuroendocrine cancer community! more

Monthly discussion of recent publications from the research literature on Alexander Disease, hosted by Albee Messing from the University of Wisconsin-Madison. more

Revitalize your spirit and connect with the vibrant congenital heart defect (CHD) community through 'Heart to Heart with Anna,' the pioneering podcast that has been inspiring and informing listeners since 11-12-13. Join us as we dive deep into the personal journeys, triumphs, and challenges of Survivors, their loved ones, esteemed medical professionals, and other remarkable individuals within the CHD community.With unwavering dedication, our heartfelt conversations bring to light the stories that need to be heard. Gain invaluable insights, expert advice, and a sense of empowerment as we explore the multifaceted world of CHD. Our mission is to uplift, educate, and enrich the lives of every member of this incredible community.Embark on a transformative listening experience where compassion and understanding thrive. Discover the resilience and unwavering spirit that resides within each person touched by CHD. Together, let's build a community where support and knowledge flourish, bringing hope to the forefront.Tune in to 'Heart to Heart with Anna' and embark on a remarkable journey that will leave you inspired, enlightened, and connected to the beating heart of the CHD community. more

This is the real, raw, and all the feels of loving a child with disabilities. Episodes feature parent-guests, professionals, and solo episodes with host Madeline Cheney. Their authentic conversations don't shy away from the strong and mixed emotions that often accompany medically-complex parenting.Parents listen in to feel seen, validated, and receive much-needed solidarity. Professionals working with disabled people listen in to better understand what is often going on under the surface for a family living with disabilities. more

Welcome to the Hope and Help for Fatigue and Chronic Illness Podcast. It's our mission to help people that have some really complicated illnesses. People that have post viral syndrome like long COVID and ME/CFS or chronic fatigue. Those that have had toxic exposures like gulf war illness, mold exposures, pesticides and heavy metals. These illnesses can present very similarly, they can actually look the same to your clinician.You may have fatigue, post exertional malaise, foggy brain and many other symptoms that seem to be common across many illnesses. Underneath all of these illnesses, the causes of the symptoms are very similar. We know first hand how hard it is to get access to meaningful information and care when you find yourself or a loved one here. It is our hope to give you, bit by bit, the knowledge and ideas that we have seen make a positive impact on individuals just like you. And that you will take all those threads and begin to weave back together a healthier person.Brought to you by the Institute for Neuro-Immune Medicine where we have over 200 years of combined clinical experience in Neuro-Inflammatory disease. more

Susan Hendrix is a lupus survivor who has achieved a great deal while dealing with this chronic illness. She will take you through her lows and highs, but most importantly she will bring further awareness to this chronic illness and allow others to know you can still live your life to the fullest. Susan Hendrix is educated in the field of Health and Science, at the age of 29 she became an entrepreneur and established her own Durable Medical Equipment Company along with a Medical Consulting Firm. Cover art photo by http://efeck.com('SM') more

Talk Fragile X Podcast exists to provide a platform for families and Fragile X experts to share their knowledge, resources, and experiences, all in the hopes of creating more awareness, advocacy, and support of Fragile X Syndrome! Even if you don't know what Fragile X Syndrome is, this Podcast is for you! I want everyone to know what Fragile X is and understand it's genetic prevalence in individuals lives. more

Living with cystic fibrosis: the challenges and triumphs along the way. Live-Breathe-Inspire

The Major Pain podcast is a collection of interviews from people living with chronic illness and disability. Our goal is to spread awareness, empathy and community around experiences often lived through in isolation. Through sharing these stories important themes have become increasingly apparent, including the dangers of medical gaslighting, the importance of self-advocacy and the fact that none of us are in this alone. You can share your thoughts, your story, or inquire about appearing on the show at majorpainpodcast@gmail.com. more

The mission of our podcast is to support you, our listeners and to create community, as you confront the toughest challenges in life. All of us will experience health hardships. The real question is how we adapt. That is the focus of It Happened To Me, which wants to help you overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help you succeed in the face of difficult health obstacles. It happened to me…I'm not alone and neither are you.We encourage you to learn more at ItHappenedToMePod.com. Please use the contact form on our website to submit your guest suggestions, comments, questions, ideas, and feedback for the show, you can also email us directly at ItHappenedToMePod@gmail.com. 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 ... more

PeerView (PVI) is a leading provider of high-quality, innovative continuing education (CME/CE/CPE and MOC) for clinicians and their interprofessional teams. Combining evidence-based medicine and instructional expertise, PeerView activities improve the knowledge, skills, and strategies that support clinical performance and patient outcomes. PeerView makes its educational programming and expert-led presentations and symposia available through its network of popular podcast channels to support specific specialties and conditions. Each episode includes a link to request CME/CE credit for participation. PeerView is solely responsible for the selection of topics, the preparation of editorial content, and the distribution of all materials it publishes. more

Glioblastoma aka GBM is a podcast by the Glioblastoma Research Organization that highlights the stories of our community, from Glioblastoma Warriors, to caregivers, medical advisors, and more. Glioblastoma aka GBM is hosted by Amber Barbach, who founded the Glioblastoma Research Organization in 2018, after her father was diagnosed with and passed away from Glioblastoma.This podcast is an exploration of stories and personal experiences, and is not meant to be taken as medical advice of any kind. If you have questions, always consult with your own medical providers and healthcare team. You are warmly invited to connect with the team at the Glioblastoma Research Organization, and share your own stories and experiences. For more information, please visit gbmresearch.org.  more

CancerCare's free Connect Education Workshops are a way for people to learn about cancer-related issues from the convenience of their home or office. Leading experts in oncology provide the most up-to-date information in these workshops to help you and your loved ones better understand and cope with your cancer diagnosis, treatment options, quality-of-life concerns, treatment side effects, pain management, doctor-patient communication and other important topics. more

CancerCare's free Connect Education Workshops are a way for people to learn about cancer-related issues from the convenience of their home or office. Leading experts in oncology provide the most up-to-date information in these workshops to help you and your loved ones better understand and cope with your cancer diagnosis, treatment options, quality-of-life concerns, treatment side effects, pain management, doctor-patient communication and other important topics. more

The Lupus Science & Medicine® podcast is your premier source for the latest insights and developments in lupus and related diseases. Each episode features in-depth interviews with authors and leading experts, covering the newest advances in lupus research and treatments.Lupus Science & Medicine® - lupus.bmj.com - is an esteemed international journal from the BMJ Group and the Lupus Foundation of America (LFA). The journal publishes basic, clinical, translational, and epidemiological studies of all aspects of lupus and related diseases.Subscribe now or listen on your favourite podcast platform to enhance your understanding of lupus.Podcast hosted by: Dr. Anna Wolska, The Lupus Foundation of America, USA* The purpose of this podcast is to educate and to inform. The content of this podcast does not constitute medical advice and it is not intended to function as a substitute for a healthcare practitioner's judgement, patient care or treatment. The views expressed by contributors are those of the speakers. BMJ does not endorse any views or recommendations discussed or expressed on this podcast. Listeners should also be aware that professionals in the field may have different opinions. By listening to this podcast, listeners agree not to use its content as the basis for their own medical treatment or for the medical treatment of others. more

Real life experiences, practical advice and everything in between. Whether you are diagnosed with Neuroendocrine Cancer or another rare or less common cancer, our podcast series cover topics from initial diagnosis, treatments and follow up, looking after your mental health and the professional perspectives from those involved in your care. Hosted by Catherine Bouvier and produced by Neuroendocrine Cancer UK. We hope this series answers some of your questions or provides a source of support - or both, after all, this is not just NE cancer. more

Hi! We're Luna and Shelli, also known as The Two Bendy Mommas. We talk about the lived experience of those affected by the inherited connective tissue disorders, and its intersection with neurodiversity, elevating marginalized and intersectional voices for our community. Please note: Hacking Hypermobility is produced in its entirety by three disabled women in various stages of life and parenting adventures. New episodes are typically released biweekly from January through July. more

CReATe Connect podcasts are short recorded interviews on topics we hope will be of interest to patients with ALS and other motor neuron diseases. more

PeerVoice is an independent, professional medical publishing concern focused on gathering and reporting information pertaining to clinically relevant advances and developments in the science and practice of medicine. As publishers of PeerVoice Publications, PeerVoice is solely responsible for the selection of publication topics, the preparation of editorial content and the distribution of all materials it publishes. more

PeerVoice is an independent, professional medical publishing concern focused on gathering and reporting information pertaining to clinically relevant advances and developments in the science and practice of medicine. As publishers of PeerVoice Publications, PeerVoice is solely responsible for the selection of publication topics, the preparation of editorial content and the distribution of all materials it publishes. more

Welcome to Help 4 HD Live! We are proud to broadcast credible information and education to the Huntington's disease community on a weekly basis. Help 4 HD Live! broadcasts every week providing vital information and inspiration to our Huntington's community. We have been blessed to interview many of our JHD/HD researchers, medical professionals, care providers and the pharmaceutical industry for six years. Join our Hosts, Katie Jackson each week for incredible programming and don't forget to share this channel with your colleagues, family and friends. **Help 4 HD Live! is made possible through an education grant from Teva Pharmaceuticals and the Griffin Foundation. Thanks for tuning in! Help 4 HD International Inc. **Please consult with you own physician for advice about any medical recommendation. more

A podcast telling the stories of those affected by a fatal muscle wasting disease, Duchenne muscular dystrophy (DMD), that robs children of their ability to walk by the age of 11, the ability to raise their arms by their teenage years, and eventually their lives in their early 20s. Hosted by 23 year old founder of the 501 (c)3 nonprofit organization Destroy Duchenne, Elijah Stacy, who also suffers from Duchenne muscular dystrophy. The goal of the Destroy Duchenne podcast is very simple, yet ambitious: interview every person that has a relationship to Duchenne. more

ABCs of NMOSD brings together the latest information and research about all things NMOSD, from diagnosis and treatment to quality of life and what it's like to live with NMOSD. We invite medical experts and researchers, to share the latest up-to-date research and clinical knowledge. We have conversations with individuals who have been diagnosed with NMOSD, their caregivers, and allied health professionals. We give tips on how to advocate at school and at work, where to find help and support, navigate health insurance, and work with a team of medical experts. more

Everyone's experience with cystic fibrosis (CF) is unique. Listen along as different individuals in the community share their diverse perspectives on how CF impacts day-to-day life, and get useful information to help empower you in your own journey. more

The Positive Twist is a podcast about the third most common movement disorder, dystonia. In every episode we meet patients, caregivers and experts, sharing facts, and their stories related to dystonia, each ending with a positive twist! more