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Wait How Do You Spell That? is a rare disease podcast produced by Patient Worthy. We talk about issues affecting people rare and underdiagnosed conditions and interview advocates from across the community. We‘re definitely not doctors, and we can‘t give you medical advice. We‘re just here to chat and learn about the diseases that even doctors can‘t seem to spell. Check out the latest in rare disease news at PatientWorthy.com.
 
I want to share information about living with and dealing with a chronic or invisible disease. This is made even more difficult if the disease is rare. I'll share my story and also invite some guests to share their viewpoints and experiences. There are hundreds of different types of diseases out there that are invisible and can the sufferer feel more alone. I'm hoping to help the patient, families and other support systems better communicate and empathize with each other. ***Disclaimer - Thi ...
 
If you or someone you love is affected by a rare disease, you likely have more questions than answers. That’s why we’re here. Rare Disease Connection, and our additional resources on RareDisease.com and YourDNA.com, brings together the people whose expertise can explain what you’re facing. From diagnosis, to prognosis, to treatment options, all the way to questions like “Who do I talk to? Where are the people who’ve been through this before?”. We have the answers, direct from the experts and ...
 
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CoRDS Cast

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CoRDS Cast

Benjamin Forred

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This is CoRDS Cast, a rare disease podcast created by the team at Sanford Research. Our rare disease registry, CoRDS, connects patients and researchers everywhere. Here, you'll hear interviews with patients, patient advocates, physicians, and researchers to raise awareness about the 7,000 rare conditions affecting 1 in 10 people worldwide.
 
The Rare Disorder Podcast is a podcast created by Shivani Vyas, a high school senior, young changemaker, and rare disease advocate, dedicated to spreading awareness for rare diseases. This podcast is divided into 2 main series. In the "Meet a Fighter," Shivani interviews patients and those affected by rare diseases allowing them to share their inspirational stories. In "Meet An Expert/Partner," Shivani interviews public health experts, rare disease organization leaders, rare advocacy leaders ...
 
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Rare with Flair

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Rare with Flair

Casey Greer & Cassandra Mendez

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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! For show notes, go to rarewithflair.com/podcasts
 
Come listen while two spoonies talk about True Crime! From malpractice to the most gruesome true crime cases - we cover the curious, the dark, and the bizarre. We started as a podcast focused on exposing the malpractice cases that changed our medical system forever. Recently we have branched out and have added subjects like rare diseases, medical history, serial killers who prey on the vulnerable, Munchausen by Proxy cases, diagnosis stories, interesting health remedies, self-help book revie ...
 
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Two Rare Mama Bears

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Two Rare Mama Bears

Cure CMD (Matty Manley & Megan Meyer)

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Two Rare Mama Bears, a Cure CMD Podcast - where we discuss all things Congenital Muscular Dystrophy and Rare Disease...All subtypes, ages, abilities and topics with the intent to connect the CMD community. This podcast is about bringing together affected individuals, their family, researchers, clinicians, industry, and policy-makers to have conversations with the goal of moving the needle on the mission of Cure CMD. Hosts: Megan Meyer and Matty Manley.
 
Science Will Win explores the fascinating science, policy, and humanity which is shaping the future of healthcare and transforming patients’ lives for the better. Hosted by Adam Rutherford, geneticist and Honorary Fellow at University College London, our first miniseries takes listeners on a journey behind the science of gene therapy; the next generation of medicines bringing new possibilities for patients living with rare genetic diseases. At a time when innovative science is achieving the ...
 
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Danny Chats

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Danny Chats

Danny Hiles

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Danny Chats is me, Danny Hiles talking to a special inspiring guest each episode. The podcast starts off by focusing on a rare liver condition called Wilson's Disease and having Liver Transplants. From there the podcast will feature people who have had different types of transplants and other inspiring people with an interesting story to tell.
 
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 ea ...
 
Affecting less than 200,000 people in the US each year, sickle cell disease (SCD) remains a rare but painful and often misunderstood illness. Patients suffering from SCD often fly under the radar for critical early-stage diagnosis, which can lead to future complications and poor outcomes. This series seeks to bridge the gap in SCD education for healthcare providers on the frontlines of emergency medicine to improve patient care. Hear from experts in the field as they discuss common misconcep ...
 
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show series
 
In this episode, I chat with Rich Horgan, the Founder and President of Cure Rare Disease. Cure Rare Disease is developing custom therapeutics that are as unique to the individuals they are meant to treat. Our mission is to offer effective, life-saving treatments developed through collaborations with world-renowned researchers and clinicians, and in…
 
In this episode, we speak with Miranda Edwards, the voice behind Pheo vs. Fabulous about her journey with pheochromocytoma. That's an ultra-rare endocrine tumor that produces adrenaline, characterized by symptoms such as rapid heartbeat and dangerously high blood pressure, among others. Topics discussed: self-advocacy, the importance of awareness, …
 
In this episode P4A’s Richard Wang and Adama Anozie discuss Hospital Exemption (HE) which is an emerging access pathway for Advanced Therapy Medicinal Products (ATMPs). Main topics of discussion include the benefits and potential downsides associated with this pathway, the EU regulations involving HE and recent events in Italy, Spain and France, as…
 
Kayla Dunlop is a pulmonary hypertension patient from Southern California. In this episode, Kayla discusses being born with a rare condition called giant omphalocele (GO), the challenge of adjusting to life on oxygen 24/7, and how she is using her creative spirt to make jewelry to raise funds and awareness for pulmonary hypertension. Learn more abo…
 
Today we discuss the information behind Daniel Robinson's disappearance, the Arizona resident who disappeared around the time Gabby Petito went missing. Social Media: Tiktoks: ryahpabon/jauclyns Instagram: ChronicallyIconicMistakes Sources: Anyone with information relating to Robinson is urged to call Buckeye PD at 623-349-6400 https://pleasehelpfi…
 
In our November edition of CoRDS Cast, Alyssa sits down with Kristie DeMarco who is the president and founder of the Global DARE Foundation. In 2019 Kristie was diagnosed with Refsum through genetic testing. In two years she went from an iron man triathlete to walking in constant pain along with losing peripheral vision and sense of smell. Refsum i…
 
hi hello hey and welcome back! This week, we talk all about assistive technology devices we use to make life easier with low vision. Starting from childhood and the low tech tools we used, we walk through the tools we use as adults and why we love them. Spoiler: we get really passionate about our favorite things because they have very literally cha…
 
Doug Evans is a Pulmonary Hypertension patient from Florida. In this episode, Doug discusses his time in the military as a bomb loader, why he had to move from Colorado to lower altitude due to his PH, and how his treadmill and passion for Team PHenomenal Hope helped him lose over 80 pounds by simply walking. Learn more about pulmonary hypertension…
 
In this episode, I chat with Saida Mahoney, a fighter of Partial Trisomy Of 8q. Saida Luvenia Mahoney is 25 years old and lives in Oakland, California. She is an author and a proud student at Modesto Junior College, San Joaquin Delta College, and Merced College. Saida is a performing arts major and creates music, does dance, and performs in theatre…
 
Derek Henderson is a #CTEPH patient from Toronto, Canada. In this episode Derek discusses is road to diagnosis with a rare form of pulmonary hypertension, the mental challenge of PTE surgery and the misconceptions of Canada's socialized medicine program. Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Never miss…
 
Ryah and Jauclyn pop in to talk about 3 different malpractice cases - a doctor who appears in video court while performing surgery, a young girl who was burned during a dental prodecure, and a transgender man who was denied a hysterectomy. Socials: Tiktok: ryahpabon/jauclyns Instagram: chronicallyiconicmistakes\ Sources: Doctor appears in court vid…
 
In this episode, I chat with Ella Balasa, a Patient Advocate, Speaker, and Consultant. Ella is passionate about amplifying the patient voice in healthcare. Having a background in biology, Ella has experienced both sides of the research spectrum - as a patient and a scientist. Examining antibiotic resistant bacteria in the environment, which is the …
 
hey hi hello! This week, it’s all about independence and our transition to adulthood. We talk cooking, cleaning, transportation, and all things living on our own. While we know independence isn’t the “end-all, be-all,” but we wanted to talk about our journeys into adulthood. We hope you enjoy! Case in NYC and Cass in Seattle, 2017/2018 show notes C…
 
Kelly Lynch is a pulmonary hypertension patient from San Francisco. In this episode, Kelly discusses her parasitic twin, battling depression and finding a platform to express her rareness on TikTok. Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Never miss an episode with the phaware® podcast app. Follow us @ph…
 
In this episode, I chat with Terry Wilcox, the Founder and Executive Director of Patients Rising and Patients Rising Now. Formed in 2015 as a 501(c)3, Patients Rising has developed a significant following of over 110,000 patients and caregivers and has guided more than 25,000 of them on their journeys to advocate for themselves and their loved ones…
 
In this episode, we speak with Dave Cade, an acute myeloid leukemia patient who is in remission after an experimental treatment. We discuss keeping hope in the face of a tough diagnosis and the importance of support. Learn more about AML here.Patient Worthy
 
Gene therapy is at a pivotal moment. For eligible rare disease patients, the potential impact could be huge. So how can we support that potential to fruition and what will it mean if we do? In our season finale, host Adam Rutherford and guests take a peek into what a world with successful gene therapies could look like for patients, healthcare and …
 
We continue to review healthcare disparities and inequalities within our healthcare system and look at reasons why they may exist and what we can do to try to erase them. Contact Info: Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F Jefferson (@CInvisible2020) / Twitter Facebook: SeetheInvisible2020 | Facebook Website: SeetheInvisibl…
 
In this episode, I interview Jenny Jones, a fighter of Familial Adenomatous Polyposis and Short Bowel Syndrome. Jenny was diagnosed with the rare, hereditary colon cancer syndrome Familial Adenomatous Polyposis at age 8 and had her first surgery to remove her colon at age 9. After experiencing life-threatening complications, Jenny required 4 more s…
 
In this episode, I chat with Parvathy Krishnan, a rare mom and the Foundation Alliance Manager at Global Genes. Global Genes provides hope for the more than 400 million people affected by rare disease around the globe. They fulfill their mission by helping patients find and build communities, gain access to information and resources, connect to res…
 
In this episode we cover an active case of Jelani Day - the beloved son and college student that went missing around the time Gabby Petito's case opened, and was later found dead - no suspects have currently been charged. Social Media: Tiktok: jauclyns/ryahpabon Instagram: Chronicallyiconicmistakes Sources: Anyone with any information about Day’s c…
 
As with any new breakthrough medicine, entering the healthcare system comes with a host of obstacles and potential barriers. In this episode, Adam Rutherford and guests break down the big changes needed within the global healthcare ecosystem to ensure that, once approved, the therapies we’re researching now, like gene therapy, reach the patients wh…
 
In this episode, we discuss an ultra-rare genetic condition with Carole Bakhos of Jordan's Guardian Angels. To find out more about Jordan's Syndrome and how you can support this important nonprofit, check out their website here. Their podcast, "A Rare Reality," is available here or on your favorite podcast platform.…
 
hi hello hey, and what a special week we have for you! Yes, you read correctly: we were finally reunited after two and a half years! It was magical, and not just because we were at The Most Magical Place on Earth! Getting to hug again was so special, and we had to share our time with you all, while also touching on disability-related things about h…
 
In this episode, I chat with Courtney Felle, a Patient Engagement Fellow at EveryLife Foundation for Rare Diseases. The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances th…
 
Danny Chats Ep33 features special guest Margaret Elizabeth. In this episode, Margaret tells us how in her early twenties, Wilson's Disease left her fighting for her life. Over a very short period, Margaret became so ill she could barely walk, write or feed herself. As you can imagine, this was a hugely worrying time for her and her family. Once the…
 
Danny Chats Ep32 Wilson's Disease; Special Guest Emilia Quezgo. My guest Emilia is from Mexico and she talks to me about her experience of being diagnosed with Wilson's Disease and how she has struggled to get the correct medication. The main Wilson's Disease medications are not available in Mexico so Emilia has had to apply for a special permit an…
 
In lieu of recent events, Ryah and Jauclyn start a new segment: Conspiracy Theories. In this episode Ryah talks with Jauclyn about all of the people that go missing in National Forests every year and what could be behind these missing persons cases. *Disclaimer: We joke in our podcasts, but it NEVER takes away the seriousness of these tragedies* Wa…
 
Gene therapy has come a long way to get where it is today but there is still much to learn and investigate. Host Adam Rutherford speaks to a line-up of experts about the vital role of clinical trials and the unique challenges facing gene therapy and rare disease patients. Featuring guests: Brenda Cooperstone, Senior Vice President, Chief Developmen…
 
In this episode Ryah and Jauclyn read some of Dr. Death's uncovered messages on the Texas Observer after his malpractice cases came to light. Let us know on Instagram if you'd like us to read more! Social Media: Tiktok: jauclyns/ryahpabon Instagram: ChronicallyIconicMistakes Sources: https://imgur.com/a/ImfmefS…
 
Part 2 of our series on addressing healthcare disparities: We will review what baselines are and how they can impact clinical trials, as well as begin to discuss why it is important that clinical trials include people of all backgrounds. Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F Jefferson (@CInvisible2020) / Twitter Facebook: S…
 
Gene therapy is a revolutionary field of science that has the potential to transform lives. It presents this big question; What if we could treat a disease at its root cause, rather than just the symptoms? On the first episode of Science Will Win, host Adam Rutherford takes us through the history, science, and significance of gene therapy. Featurin…
 
In this episode, I chat with Maria Thacker-Goethe, the CEO of Georgia Bio. Maria Thacker-Goethe has more than 13 years of experience in non-profit management and development. She was appointed president and CEO for Georgia Bio and the Georgia BioEd Institute in February 2019. Maria has helped build the organization into one of the top state bioscie…
 
hi hello hey, we got a spicy one this week! Cass and Case with their mobility tools, 2020/2021 show notes Casey mentions the Our Generation blind doll! Check it out! Cassandra references our how we see episode which gives some context to how we can see Casey mentions our representation in media episode…
 
In this episode, I chat with Dr. Sarah McCool, who is a Clinical Associate Professor and Director of Undergraduate Programs at the School of Public Health at Georgia State University. In this podcast, Dr. McCool discusses various projects she has completed, causes she is passionate about, her extensive background and experience, and much more! Dr. …
 
We talk about the active and open investigation of Kylen Schulte and Crystal Turner who were brutally murdered in Utah just months ago. We also talk about how it could connect with the Gabby Petito case. Social Media: Tiktok: jauclyns/ryahpabon Instagram: Chronicallyiconicmistakes Sources: Go Fund Me for Sean-Paul: Fundraiser for Sean-Paul Schulte …
 
In this episode P4A’s Senior Client Relationship Director, Bruce Chin discusses his experiences from the in person World Orphan Drug Congress USA 2021. Topics of discussion included travel and safety precautions due to COVID, Bruce’s favourite sessions, key learnings from the sessions, and much more! Presenter: Georgie Rack Contributor: Bruce Chin …
 
Danny Chats Episode 31 features special guest Caroline Tancredy. In this episode Caroline tells me how Wilson's Disease affected her and her twin sister Marry, who sadly lost her life before being diagnosed. Caroline was asymptomatic but when tested for Wilson's Disease she still had very high copper levels and was put on medication immediately. So…
 
In this episode, we discuss narcolepsy and the results of a recent clinical trial investigating FT218 for efficacy in treating excessive daytime sleepiness and cataplexy. Dr. Asim Roy, the medical director of the Ohio Sleep Medicine Institute and a lead investigator in the REST-ON study, joins us.To learn more about FT218 and the clinical trials, v…
 
This episode will begin the series on address healthcare disparities and accessibility. This will be a multi-part series as there is a wealth of items that need to be addressed, and in this case, wealth is not good. This episode will review key points and information for understanding what the next episodes hold and why addressing these now is not …
 
We share what we know so far on the Gabby Petito case (Keep in mind that this was recorded this week, new information is currently coming out so may not be completely up to date). Gabby Petito was a known social media influencer, as well as a very beloved daughter. We can tell she'll be truly missed. Update: Brian Laundrie is now wanted on a federa…
 
In this episode, we discuss a condition called periodic paralysis with Dr. Steve Cannon, professor and chairman of the department of physiology at the David Geffen School of Medicine at UCLA and medical advisor with the Periodic Paralysis Association. Periodic Paralysis is a rare genetic disorder that is characterized by attacks of paralysis, weakn…
 
We cover the story of Gabby Petito, Social Media Influencer, who was reported missing in September 2021 - her fiancé Brian Laundrie, being the main suspect. *This story is still developing, so come back for updates. * Update 9/21/2021: As of today around 5pm - the body found yesterday has been confirmed Gabby Petito, ruled as a homicide, cause of d…
 
hi hello hey, HAPPY FALL! If you’re a longtime listener, you know how much we love fall. We’re definitely *those* girls, but we wouldn’t change it for anything. Although it’s not quite fall yet, we thought we’d ring in the season with a fall special! We talk about all our fall favorites and make a quick pit-stop to talk about the disability aspect …
 
Danny Chats Episode 30 features special guest Jaskaran Singh. Jaskaran was diagnosed with Wilson's Disease in March 2017 but before that his Doctors had miss diagnosed him with Bipolar. Its very common for WD patients to be miss diagnosed at first as the symptoms also match up with many other diseases and illnesses. Once on the medication, Jakarans…
 
In this episode, I chat with Dr. Monkol Lek, who is an assistant professor of genetics at Yale University, and an avid researcher with his own established lab, the Lek Lab, at Yale Medical School. He is also part of the research team at Cure Rare Disease, an organization with a mission to develop custom therapeutics that are as unique to the indivi…
 
Come join us as we talk about the mysterious H.H. Holmes - the first American serial killer who would lure unsuspecting victims into his Chicago torture mansion. Tiktok: Jauclyns/ryahpabon Sources: https://www.crimemuseum.org/crime-library/serial-killers/hh-holmes/Jauclyn & Ryah
 
Part 2. We are exploring back to school safety tips - even though some of the tips don’t necessarily apply to illnesses, they are good reminders on what we need to be aware of as our most precious resources begin another academic year. This episode will concentrate on keeping our kids healthy Contact: Email: Seetheinvisible2020@gmail.com Twitter: R…
 
Part 2. We are exploring back to school safety tips - even though some of the tips don’t necessarily apply to illnesses, they are good reminders on what we need to be aware of as our most precious resources begin another academic year. This episode will concentrate on transportation tips. Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda…
 
In this episode, I chat with Tara Britt, who is the Associate Chair of the North Carolina Rare Disease Advisory Council and Founder and President of the Rare Disease Innovations Institute. Rare Disease Innovations Institute is a global non-profit focused on educating, engaging and equipping the rare disease community. Through policy, tools and data…
 
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