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

Stay up-to-date on the cutting edge of science and medicine in the Phelan-McDermid syndrome field! Dr. Lauren Schmitt, the Chief Science Officer of the Phelan-McDermid Syndrome Foundation (PMSF), sits down with top experts driving groundbreaking research, treatment, and care. These engaging conversations deliver the latest breakthroughs in a way that's easy to understand, keeping our PMSF community informed and empowered. You won't want to miss this! more

Down For Health is a single-host podcast dedicated to empowering families of individuals with Down syndrome by exploring the transformative power of functional medicine. Hosted by an experienced practitioner, this podcast offers practical insights into disease prevention, wellness strategies, and the unique health challenges faced by those with Down syndrome. more

CAH Pulse takes us on a journey to educate and bring attention to the challenges and triumphs of individuals living with Congenital Adrenal Hyperplasia (CAH). Each month patients, family members, medical professionals, researchers and caregivers share their stories, experiences and advice living with this challenging condition. Our hope is to further connect and champion this incredible community.*This podcast was recorded under a SAG-AFTRA Collective Bargaining Agreement* more

Whether you've just learned the difficult news of your baby's cleft lip/palate, you're in the middle of your cleft lip/palate journey, or you're a seasoned pro who knows the many challenges of children who are born with clefts all too well, this podcast is for you! Join your host, Laura C. Arroyo, mother of a daughter born with a cleft palate, in a weekly conversation about everything from feeding and speech therapy to surgeries and genetics. We'll share tips and advice from other moms who have been there and even share a little joy in the process. If you're a cleft mom, or if you know someone who is, please subscribe to the Our Forever Smiles Podcast. We're here to support you on your journey. Want to share your story or sponsor the show? Email us at ourforeversmiles@gmail.com 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

Presented by the Williams Syndrome Association, the Starry Eyed Podcast will explore the joys and challenges of living with Williams syndrome, a rare genetic disability. Each episode will feature interviews with adults with WS and professionals and caregivers who are dedicated to raising awareness and resources. more

The Galactosemia Podcast is a resource for understanding and navigating life with galactosemia. Whether you're a new parent grappling with a recent diagnosis or a member of the community seeking updates, this podcast has you covered. Each episode dives deep into the science, treatments, and real-life experiences of families and experts dealing with this rare genetic condition. Join us as we interview doctors, researchers, and families to share insights, practical advice, and hope for the future. more

A review of the latest literature and thought leaders in pediatric cardiovascular care.

Whether you're bendy with all the benefits or hurting in all the wrong places, you've come to the right place for all things hypermobility. Connective tissue disorders like Ehlers-Danlos Syndromes (EDS) are often dismissed or overlooked by healthcare providers as a cause of chronic pain. But if you or someone you care about struggles with the life-altering symptoms of hypermobility, you should know YOU ARE NOT ALONE! At the Bendy Bodies Podcast, we understand.Each week, join Dr. Linda Bluestein (The Hypermobility MD) as she pulls back the curtain on how to prevent injury and unnecessary suffering in 'double-jointed' individuals seeking a more comfortable life in their unique, complex 'bendy bodies.' When you tune in, you're engaging in more than a podcast. Both on-air and online, you're joining a supportive community where patients, caregivers, and healthcare professionals trade insights, life hacks, and inspiring stories to embrace our Bendy Bodies journey together! more

This podcast contains information for caregivers and providers regarding Down syndrome. Hosted by Dr. Kishore Vellody, Medical Director of the Down Syndrome Center of Western Pennsylvania and former President of the National Down Syndrome Congress. more

Jeff Noble thought he knew all about FASD... until he became a full time FASD Foster Parent. Fast forward to now. Jeff has been coast to coast and from one side of the earth to the other talking, teaching and learning about FASD with other Caregivers, Front Line Staff and anyone who might sit and listen to him. In The FASD SUCCESS SHOW, Jeff and his gang of FASD Insiders will talk about FASD in a real way so that you can learn how to deal and cope with FASD in REAL life, to be a better advocate and a more confident caregiver. Jeff is going to tackle all the hot topics like FASD and aggression, sleep, hygiene, the education system, meltdowns and working with professionals. Pretty much all the things you need to know so that you can focus on being a happy, balanced caregiver. Jeff will make you laugh, he will make you think, but mostly he will give you hope that you CAN do this. Hit subscribe and get ready to transform into the FASD Caregiver you know you can be.  more

Imperfect Heart is a podcast designed for, hosted by and recorded with those affected by or involved with the care and support for those with the birth defect of a Myocardial Bridge. Interviews with healthcare professionals, support professionals and those navigating their way through the often challenging process of diagnosis and treatment are the focus of the content. It's their stories that are meant to inform, educate and even entertain in an effort to insure hope for the listener that what they are experiencing is real, that they are not alone and that there is hope for relief from the varied symptoms of a Myocardial Bridge. The host, Jeff Holden, has his own story to tell from symptom to diagnosis to treatment thus giving him insight and empathy as well as experience in the process of advocating for the patient. The program also seeks to make the healthcare industry more aware of the real symptoms of Myocardial Bridges with an aim to eliminate the gaslighting that is so prevalent around this defect and directly address the reality that Myocardial Bridges may be responsible for many more deaths from sudden cardiac arrest than previously thought. Early diagnosis and treatment could not only improve but may actually save lives when properly applied. More information can be found on the podcast website, www.myimperfectheart.com. more

Thal Pals: The Alpha Beta Revolution Podcast is intended for patients, caregivers, providers,and the greater community of people who are impacted by thalassemia. Each episode strives toprovide listeners with critical education, the latest scientific updates, and voices from thethalassemia community. Learn more about thalassemia by visiting RethinkThalassemia.com.Join an inclusive community and build connections with other hemolytic anemia allies byfollowing @AllyVoicesRising on Instagram. Thal Pals is sponsored by Agios PharmaceuticalsInc. Visit Agios.com to learn more.This podcast is intended for informational and educational purposes only and is not intended asmedical advice. more

Just Listen: Voices of PK Deficiency is a podcast about PK deficiency and is intended forpatients, caregivers, providers, and the greater community of people who are impacted by PKdeficiency. Each episode of the Just Listen podcast strives to provide listeners with criticaleducation, the latest scientific updates, and voices from the PK deficiency community. Learnmore about PK deficiency by visiting KnowPKDeficiency.com or connect withKnowPKDeficiency on Facebook: bit.ly/KnowPKD. Join an inclusive community and buildconnections with other hemolytic anemia allies by following @AllyVoicesRising on Instagram.Just Listen: Voices of PK Deficiency is sponsored by Agios Pharmaceuticals Inc. VisitAgios.com to learn more.This podcast is intended for informational and educational purposes only and is not intended asmedical advice. Please speak with your healthcare professional before making any treatmentdecisions. more

Cerebral Palsy is a complex health condition that impacts each individual differently. As a result, finding information about what might help improve function, increase participation, and achieve health and lifestyle goals can be difficult. This podcast is a place for conversations with experts about issues related to cerebral palsy that affect health, fitness, function and participation. We will cover a range of topics including: treatments and therapies, nutrition, neuroplasticity, genetics, exercise and fitness, adaptive sports, accessibility, and new trends. more

Join us as we explore the triumphs and challenges of raising children with Edwards Syndrome/Trisomy 18 and special needs. From practical tips for everyday life, to magnificent stories and discussions with medical professionals, our podcast offers support and empowerment for parents that are walking the uniquely joyful path. more

Welcome to Down Syndrome: 21st Perspectives. As mothers of children who have Down Syndrome, Anne and Monique were inspired to create a space to talk authentically about their experiences. Their friend, Leigh, joins them as a cohost and executive producer. The podcast name says it all: A perspective is 'a particular way of thinking about or viewing something, influenced by one's experiences and beliefs'. It is our hope that our listeners will be inspired to share their experiences; engage in our community; raise awareness, and create connections and opportunities for advocacy. Join us! more

Join us as we get real about Congenital Diaphragmatic Hernia. Real Questions. Real people. Real TALK.

The 22q Podcast is a place for individuals connected to the 22q community to share their stories. We will hear from those living with 22q, parents of 22q children, & medical/educational professionals who will share their knowledge, successes and struggles about this syndrome. 22q11.2 deletion syndrome is a disorder caused by small missing portions of the 22nd chromosome. This can result in a unique combination of over 180 different symptoms. It occurs in approximately 1 out of every 2,000 live births, it is the second most common genetic disorder after Downs Syndrome. more

Welcome to The Cleft Collective: Empowering you on your cleft and craniofacial Journey. Our community believes that together, we have more strength, wisdom, and knowledge. We're here to help you navigate it—whether you're gathering information, finding support, processing emotions, or celebrating wins along the way. Our community believes that together, we have more strength, wisdom, and knowledge. Join host Dr. Anna Thurmes, and her expert guests and the real heroes, for deep dives into vital topics from multiple perspectives. Dr. Anna, born with a cleft lip and palate herself, she has traveled this path firsthand, supported by an incredible tribe. She's a wife, daughter, sister, coffee lover, professor, speech-language pathologist, and holds a PhD in Family Social Science, with over a hundred presentations and publications on cleft speech and quality of life. She's Dr. Anna is also a proud member of the University of Minnesota Cleft and Craniofacial Team and the host of the Kona Kona Cleft Camp. Ready to be equipped and empowered? Need some fuel for your journey? Are you passionate about helping others? Pull up a seat and listen in. Remember, you are not alone! You can find us on social media at Cleft Collective. Discover our FB group and more. more

A podcast for people with Neurofibromatosis (NF-1, NF2-SWN, and Schwannomatosis)--and the people who care for them. more

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

Genetics isn't always black and white. And the emotions and decisions surrounding genetic testing can be even more complex. Hosted by genetic counselor Eleanor Griffith, the show brings you the personal experiences of patients and genetic counselors. more

A podcast by two 'Heart moms' FOR Heart moms (Or whoever wants to listen). Topics related to Congenital Heart Defects and resources available to people who are affected by CHD. We can't promise that we won't get side tracked along the way though. Also, full disclosure - we are not professionals. It's all about survival, CHEERS! more

Meet the experts on the frontlines: individuals with first-hand experiences facing a range of challenges. Their personal stories not only provide unique insights but also open up new possibilities for how we navigate our own lives. more

As a mom of a son with Skraban-Deardorff Syndrome, a WDR26-related intellectual disability, I started listening to podcasts as a form of therapy and to get advice for how to navigate through the emotions and questions that come with having a child with a rare disease diagnosis. I started this podcast for those impacted by Skraban-Deardorff, and other rare diseases, as a way to share stories, ask and answer questions, get advice and have a platform where we can work to understand together what the diagnosis means and how we can support each other. The podcast will feature guests and experts across the rare disease spectrum that highlight how to bring out the best in our rare kids and showcase that we are not alone, but part of a great community of people supporting our rare children. If you have any topics you would like to be discussed on the show, or if you would like to be a guest, please reach out to me at SmilesIncludedPodcast@gmail.com. more

Welcome to 'My rare disease' podcast. This is a platform where I raise awareness of something that affects 1 in 15 people, rare disease. By chatting to patients, health professionals and advocates, we talk about all aspects of rare disease including relationships, mental health and much more. I cannot wait for you to hear some truly inspiring stories from some absolutely amazing people.From being diagnosed with a rare disease myself at 10 weeks old, it has given me the motivation to give others in the rare disease community an opportunity to share their thoughts and experiences. more

Real stories. Real insights. The PAC3 Pulse podcast brings together parents, patients, and providers to share experiences and lessons from every stage of the congenital heart disease (CHD) journey. Each episode offers support, practical guidance, and ways to get involved in helping improve care and outcomes for patients and families. The PAC3 Pulse podcast is brought to you by the Pediatric Acute Care Cardiology Collaborative, or PAC3, a collaborative of medical centers and families working together to improve outcomes and experiences. To learn more, visit pac3quality.org. more