Rare Connection podcast

Player FM - Internet Radio Done Right

추가했습니다 two 년 전

Joanna에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 Joanna 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.

State Secrets: Inside The Making Of The Electric State

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Family Secrets: Chris Pratt & Millie Bobby Brown Share Stories From Set 22:08

9일 전22:08

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22:08

Host Francesca Amiker sits down with directors Joe and Anthony Russo, producer Angela Russo-Otstot, stars Millie Bobby Brown and Chris Pratt, and more to uncover how family was the key to building the emotional core of The Electric State . From the Russos’ own experiences growing up in a large Italian family to the film’s central relationship between Michelle and her robot brother Kid Cosmo, family relationships both on and off of the set were the key to bringing The Electric State to life. Listen to more from Netflix Podcasts . State Secrets: Inside the Making of The Electric State is produced by Netflix and Treefort Media.…

Rare Connection

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Formerly Nutrition Equity, rare connection is an extension of the podcast to include all 10,000 rare conditions and not just those covered by the Medical Nutrition Equity Act. Some of the conditions may be the same, but I am trying to turn this into a learning experience for those in the medical feild, policy leaders, and those who are just interested in hearing about rare conditions and patient stories. Rare conditions are called zebras hence the zebra striped ribbon. More common conditions are called horses. Doctors tend to learn a lot about the common conditions, but rare conditions are a paragraph in a text book at best because the medical field isn't looking at the whole picture. Rare conditions when combined are actually bigger than cancer and strokes combined and if you have a rare condition you most likely have more than one or will develop another within your lifetime. As someone with a rare condition myself (Homocystinuria or HCU), know that having a rare condition can be very lonely. Thereis normally a phsycological aspect to any rare condition, and because of lack of understanding they often go undiagnosed or misdiagnosed which can cause serious health consequences or even death. If you are interested in talking and feel comfortable on camera please contact me at joanna.ball41@gmail.com. I have a visual version of this podcast on YouTube also under my cooking channel Rare Chef.

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Rare Connection

updated 5일 전

시리즈 홈•Feed

47 에피소드

#Joanna #Fitness #Podcasting Education #Medicine #Government #I Talk

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Rare Connection

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RareGen's Impact: Khartik Uppalapati on Science, Policy, and Patient Empowerment 37:50

5일 전37:50

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37:50

Send us a text Guest: Khartik Uppalapati, Co-founder of RareGen Youth Network Episode Description: In this episode of Rare Connection, host Joanna welcomes Khartik Uppalapati, a remarkable young leader at the intersection of biomedical research and rare disease advocacy. Khartik shares his personal journey with rare conditions, which ignited his passion for scientific innovation and healthcare policy reform. We delve into Khartik's groundbreaking research in organoid intelligence, biological computing, and AI-driven diagnostics. He discusses his work at MIT's Lincoln Labs and Cincinnati Children's Hospital, as well as his contributions to antimicrobial research and machine learning-based antibiotic discovery. Khartik also sheds light on the impactful work of RareGen Youth Network, an organization he co-founded to address systemic barriers faced by individuals with rare diseases. We explore RareGen's advocacy efforts, including their engagement with hundreds of families, policy reports, and initiatives to ensure equitable healthcare access and digital health protections. Join us as we uncover Khartik's vision for a future where science, policy, and youth-led activism converge to create real, lasting change for the rare disease community. Key Talking Points: Khartik's personal experience with arteriovenous malformation and a rare lymphatic disorder. The mission and impact of RareGen Youth Network. Groundbreaking research in organoid intelligence and biological computing. AI and machine learning applications in rare disease diagnostics and treatments. Advocacy for equitable healthcare access and digital health protections. The importance of youth-led activism in the rare disease community. The work done with antimicrobial ligands, and machine learning based antibiotic discovery. The work done with CBCT imaging and AI to determine skeletal age. Resources: RareGen Youth Network: (If they have a website, include it) Khartik Uppalapati's arXiv paper: arxiv.org/abs/2411.06009 988 Suicide & Crisis Lifeline: Dial or text 988 Crisis Text Line: Text HOME to 741741 Connect with Rare Connection: YouTube: Rare Chef (Your YouTube Channel) Podcast: Rare Connection (Where to find your podcast) Facebook: (Your Facebook Page) X (Twitter): (Your X/Twitter Handle) LinkedIn: (Your LinkedIn Page) Call to Action: Subscribe to Rare Chef on YouTube. Subscribe to Rare Connection wherever you get your podcasts. Share this episode with someone who would benefit from hearing it. If you or someone you know is struggling with mental health, please reach out to the 988 Suicide & Crisis Lifeline, or the Crisis Text line. The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Cerebral Cavernous Malformation With Elizabeth From Oregon and Allison from DC 2:20:31

6일 전2:20:31

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2:20:31

Send us a text Guest(s): Allison & Elizabeth Episode Summary In this episode of Rare Connection , I’m joined by twin sisters Allison and Elizabeth, who both have familial Cerebral Cavernous Malformation (CCM) —a rare genetic condition that causes clusters of abnormal blood vessels in the brain and spinal cord. They share their personal diagnosis journeys, how CCM has impacted their lives, and the ways they manage symptoms and advocate for awareness. Topics Covered: ✅ How Allison & Elizabeth were diagnosed with CCM ✅ Symptoms, treatments, and lifestyle adjustments ✅ The genetic and family impact of CCM ✅ Nutrition and diet considerations for managing symptoms ✅ Advocacy, research, and the future of CCM treatment Links & Resources: 🔗 Follow Rare Connection: Facebook: [Page](your page link) | [Group](your group link) X (Twitter): [@yourhandle](your Twitter link) LinkedIn: [Your LinkedIn](your LinkedIn link) 🔗 Watch & Subscribe: YouTube (Rare Chef): [Subscribe here](your YouTube link) Podcast (Rare Connection): [Subscribe on Apple](your Apple Podcasts link) | [Spotify](your Spotify link) | [Other Platforms](your podcast link) 💬 Join the Conversation: Watching on YouTube? Comment below! Listening on another platform? Click the "Send me a text" link here: [Your text link] 💙 Support the Show: Want to help keep Rare Connection going? [Support the show here](your support link). Suicide Prevention & Crisis Support If you or someone you know is struggling, help is available. 📞 Call or text 988 for the Suicide & Crisis Lifeline (U.S.) 🌎 If outside the U.S., please reach out to local crisis resources—you are not alone. The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Jeff McDonald CEO Kythera Labs 1:04:13

7일 전1:04:13

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1:04:13

Send us a text Rare disease patients often face long diagnostic delays, limited access to clinical trials, and challenges in finding treatments. Traditional medical records don’t always capture the full picture, making it harder to identify and support these patients. But what if advanced data and AI could change that? In this episode of Rare Connection , I’m joined by Jeff McDonald, CEO of Kythera Labs , to discuss how AI and data analytics are revolutionizing rare disease care. We explore how these technologies are helping to: ✅ Identify rare disease patients faster ✅ Improve clinical trial matching and recruitment ✅ Speed up drug discovery and access to treatments ✅ Empower patient advocacy with real-world data If you or a loved one has struggled to navigate the rare disease space, this conversation is packed with insights that could make a difference. Connect with Rare Connection: 🎙 Subscribe to the Podcast: [Insert podcast link] 📺 Subscribe on YouTube: [YouTube channel link] 📱 Send Me a Text: [Link in show notes] 💙 Follow Rare Connection: [Facebook] | [X] | [LinkedIn] ☕ Support the Show: [Support link] 🔔 Don’t forget to subscribe and share this episode to help spread awareness! The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Sjogren's Syndrome with Mimi From Florida 1:24:44

16일 전1:24:44

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1:24:44

Send us a text In this episode of Rare Connection , Mimi shares her 20-year battle for a Sjögren’s syndrome diagnosis —a disease often misunderstood as just a "dry eye disorder" but one that led to respiratory failure and lung scarring in her case. She opens up about her journey with pulmonary fibrosis, nightly oxygen therapy, and the challenges of being taken seriously by medical professionals. Beyond her health struggles, Mimi is an author and advocate with 33 years of sobriety . She discusses how trauma and resilience shape both her medical experiences and her work, including her books The Anatomy of an Alien and Raised by Wolves: Trapped by Demons . Join us as we explore the intersection of rare disease, trauma, and advocacy —and what needs to change in how patients are heard and treated. Topics We Cover: ✔️ Why Sjögren’s syndrome is more than just dry eyes ✔️ The 20-year struggle for a diagnosis and medical validation ✔️ How Sjögren’s led to pulmonary fibrosis and oxygen therapy ✔️ Medical gaslighting and the importance of self-advocacy ✔️ The link between rare disease, trauma, and resilience ✔️ Mimi’s books and her mission to empower others 🔹 Follow Rare Connection on Facebook, X, and LinkedIn to keep the conversation going! ⚠️ If you or someone you know is struggling, help is available. Call or text 988 for support—you are not alone. The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Alpha 1 Atrypsijn Deficiency With Mr,. Ohh From Ohio 1:12:22

25일 전1:12:22

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1:12:22

Send us a text In this episode of Rare Connection , I sit down with Chris, aka Mr. Ohh , who shares his journey of living with AATD, undergoing weekly infusions , and facing the challenges of this condition—all while using humor as his greatest weapon. We dive into what it’s like to navigate daily life with AATD, the lung-liver connection , and how laughter helps him push through even the toughest days. 📢 Don’t forget to SUBSCRIBE! 🔴 Watch more episodes & rare disease stories on Rare Chef : [Insert Channel Link] 🎙 Listen to the Rare Connection Podcast : [Insert Podcast Link] 💬 Let’s Connect! 📲 Send me a text message through the audio link in the YouTube show notes or, if you're listening on the audio side, use the "Send Me a Text" link in the show notes —I’d love to hear your thoughts! 💙 Support the Show If you’d like to help keep this conversation going, you can donate through the “Support the Show” link in the show notes . Please note that contributions are not tax-deductible as I’m still working toward 501(c)(3) status. Your support means the world! ⚠️ Mental Health Resources If you or someone you know is struggling, please know that help is available. You are not alone. 📞 Call or text 988 for the Suicide & Crisis Lifeline (U.S.) #RareDisease #Alpha1AntitrypsinDeficiency #AATD #RareConnection #RareChef #ChronicIllness #LungHealth #LiverHealth #Emphysema #Podcast The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Hemochromatosis With Michael from Guatemala 2:05:01

5 weeks 전2:05:01

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2:05:01

Send us a text Hereditary Hemochromatosis (HHC) is a genetic condition that causes the body to absorb too much iron, leading to serious health complications if left untreated. Many people go undiagnosed for years, mistaking symptoms for other conditions. In this episode of Rare Chef , I sit down with Michael J. Tallon , an author, traveler, and rare disease advocate, to discuss his personal journey with hemochromatosis. Michael’s battle with iron overload nearly cost him everything, but it also gave him a powerful story to tell. His memoir, Incompatible with Life , explores his experiences with the disease and his incredible life adventures—from teaching in Brooklyn to bartending in Guatemala. 🔗 Read the introduction to Michael’s unpublished book here: 👉 https://www.michaeljtallon.com/book 📢 Subscribe for More Rare Disease Advocacy & Awareness! If you found this episode valuable, don’t forget to like, comment, and subscribe to Rare Chef for more conversations about rare diseases, patient advocacy, and health education. 📞 Need Help? You Are Not Alone. If you or someone you know is struggling, please reach out for support. Call or text 988 for the Suicide & Crisis Lifeline —help is available 24/7. #Hemochromatosis #RareDisease #RareChef #MichaelJTallon #IncompatibleWithLife #IronOverload #HealthAdvocacy The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Acromegaly With Risa From Colorado 1:05:33

7 weeks 전1:05:33

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1:05:33

Send us a text Join me as I talk with Risa about her diagnosis with Acromegaly (A rare benign cancer). Learn about Risa's Symptoms and how she deals with her condition on a day to day basis. Risa decided shortly after having surgery to go on a 1845 mile bike ride from Colorado to Mexico despite her doctors advising against it. You can read more about her story in her book The Road Unpaved: Border to Border with a Brain Tumor and a Bike available on Amazon. Her book is being turned into a movie. Use the link below to order your copy. Please consider subscribing to both this podcast and my YouTube channel Rare Chef. Follow us on Facebook and X (Formerly Twitter) and join our Facebook Group. The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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PKU With Danielle From Maryland 42:32

8 weeks 전42:32

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42:32

Send us a text In this episode I talk with Danielle, a parent of a daughter Elsa with PKU and children's book author. Her book Rosey Racoon Has PKU is available on Amazon, See link below. In this episode I talk with Danielle about Her daughter's diagnosis with PKU, and the fears and challenges she went through as a parent, her daughter's symptoms when her levels are high VS when they are normal, The PKU diet, Advice to new parents, her book and much more. Be sure to check out Rosey Racoon Has PKU, https://www.amazon.com/Rosey-Raccoon-Has-Danielle-Freeman/dp/B0DP7V3WJ7/ref=sr_1_1?crid=JWP20L48CIPZ&dib=eyJ2IjoiMSJ9.2cLjc2XCV1FFqrwpK-Aicf_pKS6CDtvw6d_v6Udn5HI14e5r_aWcuRcvQ3g4nNE7GnJTsBVr2mDQMdr8Ip5CiVy0crKMCufcYKlnm-6qs7Yvjckvh5EGCGOnKNkOBkkh-h2cd6DMumtCVjY2GjiZ9g.wAbWMtFkDAIDP0T880pdYysz9iMl4mx6lvpsujCEapE&dib_tag=se&keywords=danielle+freeman+book&qid=1737785660&sprefix=Danielle+Free%2Caps%2C166&sr=8-1 The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Superficial Siderosis With Rori From Texas 1:13:46

18 weeks 전1:13:46

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1:13:46

Send us a text In this episode of Rare Connection , Joanna sits down with Rori, Vice President of the Superficial Siderosis Research Alliance (SSRA), to explore the complexities of Superficial Siderosis (SS), a rare and progressive neurodegenerative condition. Together, they discuss: The causes, symptoms, and diagnostic challenges of SS. Current treatments like chelation therapy and the role of dietary considerations. The vital work of the SSRA in advancing research and supporting patients. The ongoing challenges of funding rare disease advocacy and research. Whether you're living with SS, supporting a loved one, or simply curious about rare conditions, this episode shines a light on the importance of awareness, advocacy, and community. 👥 Guest Information : Rori : Vice President of the Superficial Siderosis Research Alliance Learn more about SSRA: SSRA.livingwithSS.org 🌟 Key Takeaways : Understanding Superficial Siderosis : SS is caused by chronic bleeding into the brain or spinal cord, leading to iron buildup and damage to the nervous system. Symptoms and Diagnosis : SS can present as hearing loss, ataxia, or cognitive changes, and is often misdiagnosed due to its rarity. Treatment Options : Chelation therapy can help remove iron buildup, but early diagnosis is critical for managing symptoms. The Role of Advocacy : SSRA connects patients, raises awareness, and drives research forward, highlighting the importance of collective effort in rare disease spaces. 📝 Episode Links & Resources : Donate to the SSRA: SSRA.livingwithSS.org Connect with Rare Connection: Website: rareconnection.org I am currently trying to turn Rare Connection into a Nonprofit and I need governing board members. Time commitment approximately 20 Hours a week. This is a volunteer job, so you won't be paid, I am looking for a secretary to take meeting minutes, lead the outreach committee as we grow, help with organization and newsletters, and the email list. I also need a treasurer, who is responsible for the financial end of things, budgeting, and leading the fundraising committee as we grow. Meeting time included in estimate. 1 to 2 hours a month committee time estimated between 2 and 4 hours, but it will take time to get that started. if interested email me at jball@rareconnection.org I am looking to collaborate with medical professionals to offer CE Credits, if you are interested in showing my podcast in your classroom and offering CE credits for it please let me know. All guests are encouraged to bring visuals on to the visual part of this podcast. Lastly, I am looking for sponsors if you are interested in sponsoring the show please reach out to me at jball@rareconnection.org anything you can give will help. Click the link below to help: https://www.buzzsprout.com/2204433/support Facebook: https://www.facebook.com/groups/3802022513417876 Twitter: https://x.com/Rare_Connection 🔔 Subscribe & Support : If you enjoyed this episode, please subscribe to Rare Connection and leave a review! Your support helps us continue raising awareness for rare diseases and sharing the voices of incredible advoca The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Male Breast Cancer With Phil From The UK 29:51

20 weeks 전29:51

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29:51

Send us a text Not many think of men when they think of breast cancer. Phil found a lump under his left breast while playing with his daughter Evie. Join me as i delve into this important topic. Find out what to look for the symptoms, treatment, about various support groups and more. You can contact me to let me know you thoughts through the link in the show notes. Don't forget to leave a review and please subscribe on whatever platform you are listening on. The audio is improved on this version of the podcast. I hope to have the video version fixed soon. I am trying to turn my podcast into a nonprofit by the same name Rare Connection. I am looking for patinate people who are willing to commit to one year. this is a volunteer position, so you won't be paid, however it is a great opportunity to gain valuable experience, I am looking for people with fundraising leadership, and public speaking experience. This job is a remote position, so it can be done anywhere, You must speak English (American) though. Please contact me at jball@rareconnection.org. I look forward to hearing from you. You can also sponsor the show using the following link. Any amount will help. https://www.buzzsprout.com/2204433/monetization/supporter_settings Thank you The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Homocystinuria With Erika from Florida 48:53

21 weeks 전48:53

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48:53

Send us a text Erika is the parent of 24 year old nonverbal adult Alexa. Erika is talking for Alexa in this episode, Learn about Alexa's story, Learn how Erika communicates with Alexa, their struggles getting a diagnosis, The Medical Nutrition Equity Act and sources that can help with of Medical Food Formula and vitamins that are imperative For those on a metabolic low protein diet to live. I mentioned NORD in the podcast at one point, for those not familiar NORD is the National Organization for Rare Disorders. i am trying to turn this podcast into a nonprofit. I am actively seeking board members, This is a volunteer position so you won't be paid, but it is valuable experience especially if you are out of work and have a gap in your resume. Board members will be expected to lead committees, so I need someone who can commit to atleast a year. I am looking for people who are organized, have experience with fundraising, have leadership experience, and like to travel. As we get the funds their may be travel opportunities available. Advocacy experience is a plus. If you or someone you know has a rare disease this will also help since this nonprofit is all about rare diseases. The mission of my nonprofit is the same as the podcast, To connect rare disease patients, to educate medical professionals and the public, and to find clinical trials for the 95% of rare conditions that lack FDA approved treatment. The first 2 I am already doing through a facebook group and page as well as the podcast. I also have started and email list with some of my guests. Clinical trials take funding, so I can't fund them till after we are up and running for awhile, but I can help find them and do recruiting if you know of one or are running one. Please contact me rare_connection@hotmail.com The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Homocystinuria Awareness Month: Classical Homocystinuria with Denise From Ohio 45:04

23 weeks 전45:04

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Send us a text Denise's child Rileu is one of few that I have spoken to that was diagnosed through newborn screening. Although Homocystinuria is on the Newborn Screening Nationwide it only catches a case 50% of the time. We are working on enhanced Newborn screening but newborn screening saves lives has not been reauthorized yet. Follow along as I talk to Denise about Riley's diagnosis, her symptoms, diet, the diet formula, how she works with the schools and more The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Homocystinuria Awareness Month: Classical Homocystinuria with Anna from Uruguay 42:56

23 weeks 전42:56

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42:56

Send us a text This episode marks my second HCU Awareness month doing podcasting, and my 3rd international episode, In this episode I talk with Anna about her 12 year old daughter Juana who was diagnosed with Classical Homocystinuria. She was the first to be diagnosed with Classical HCU in Uruguay. Learn how Anna gets testing done in a country where Homocystinuria is not known about. The struggles they face with getting medically prescribed foods and formula. How they spread awareness, and how they deal with the social pressures of HCU> The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Chronic Intestinal Pseudo Obstruction With Briana From Ohio 1:13:51

26 weeks 전1:13:51

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1:13:51

Send us a text Briana's son was diagnosed with Maple Syrup Urine Disease and Chronic Intestinak Psuedo Obstruction, He will be undergoing a dual transplant of both the small intestine and the Liver. Liver transplants have been known to cure Maple Syrup Urine Disease, Both conditions are covered by the Medical Nutrition Equity Act which would mandate that health insurance cover the cost of medical foods, formula and vitamins nationwide. The bill was reintroduced into the House in December of last year and we are now looking for a Senate republican to reintroduce the bill into the senate. Please write your representees and ask them to sponsor HR 6982 championed by representative McGovern and If you have a republican senator ask them if they would be willing to reintroduce this Life saving bill. S3pt3mber is also Newborn Screening Awareness Month and Maple Syrup Urine Disease is on the Newborn screening panel in all 50 states, Junior was not picked up by newborn screening, but many are missed sadly. Newborn Screening is up for reauthorization and needs vital funding to be able to ad more conditions to this live saving bill and get the children treated before it is to late. This is the second episode in a row where I have talked to transplant recipients. Please consider becoming a donor. You could be saving someone's life. The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…

Rare Connection

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Dyskeratosis Congenita with Damien from Arizona improved sound from live 1:14:06

27 weeks 전1:14:06

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1:14:06

Send us a text This is an audio playback from the live version of my podcast earrlier today with Damien. If you were listening to the live version, I rerecorded my part to make it clearer. I am hoping that upgrading my internet plan will help with the video version. This episode is on Dyskeratosis Congenita (bone marrow failure) by means of Short Telemere Syndrome (Diysfunctional Chromosomes/DNA). Damien is an retired US Air Force Vet from Arizona. He was a flight engineer for the Air Force, He followed his dream to fly until he was involved in a car accident and the health issues he had ignored caught up with him. He has had 2 bone marrow transplants. We also talk briefly about the dog that helped him throught the trauma. Please subscribe to my YouTube channel Rare Chef and this podcast wherever you are listening. Shorts for this live may be delayed because of a trip to Atlanta, but they should be up by Friday. The C-Section Experience The C-Section Experience podcast is your guide to navigating c-section births with... Listen on: Apple Podcasts Support the show…