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Rare Connection
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Inhalt bereitgestellt von Joanna. Alle Podcast-Inhalte, einschließlich Episoden, Grafiken und Podcast-Beschreibungen, werden direkt von Joanna oder seinem Podcast-Plattformpartner hochgeladen und bereitgestellt. Wenn Sie glauben, dass jemand Ihr urheberrechtlich geschütztes Werk ohne Ihre Erlaubnis nutzt, können Sie dem hier beschriebenen Verfahren folgen https://de.player.fm/legal.
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.
62 Episoden
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Inhalt bereitgestellt von Joanna. Alle Podcast-Inhalte, einschließlich Episoden, Grafiken und Podcast-Beschreibungen, werden direkt von Joanna oder seinem Podcast-Plattformpartner hochgeladen und bereitgestellt. Wenn Sie glauben, dass jemand Ihr urheberrechtlich geschütztes Werk ohne Ihre Erlaubnis nutzt, können Sie dem hier beschriebenen Verfahren folgen https://de.player.fm/legal.
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.
62 Episoden
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×Send us a text In this episode of Rare Connection , Joanna speaks with Liz , mother of Stephanie, about the ultra-rare IRF2BPL genetic disorder—also known as NEDAMSS—and the groundbreaking milestone of the first-ever IRF2BPL gene replacement therapy. We discuss what this means for the rare disease community, the hope it brings to families, and the path toward future treatments. In the video version of this episode, you’ll also see a moving photo tribute of Stephanie’s life, highlighting both her journey and the determination of her family to push research forward. Resources & Links Mentioned: 📌 Read more about Elly’s groundbreaking treatment: https://ellysteam.org 📌 Sign up for Elly’s Team webinar updates: https://www.surveymonkey.com/r/IRF2BPL_webinar Support & Connect: 💬 Comment below (video) or use the “Send Me a Text” link in the show notes (audio) 📺 Subscribe to our YouTube channel, Rare Chef 🔗 Follow Rare Connection on Facebook, X, and LinkedIn Mental Health Support: If you or someone you know is struggling, call or text 988 in the U.S. for 24/7 confidential help. Support the show…
Send us a text Imagine discovering that a life-saving treatment for your rare condition exists — but you can’t get it because it’s not available or affordable in your country. That’s the reality for countless families around the world. In this global episode of Rare Connection , host Joanna Ball sits down with Aayush Goyal , founder of MedsPartner , a platform that helps patients legally access medications from other countries through the named patient import pathway . We cover: 🔹 The rare disease drug access crisis across borders 🔹 How MedsPartner helps navigate regulatory challenges 🔹 The hidden legal system most doctors and patients don’t know about 🔹 Real stories of families who found hope when doors seemed closed 🔹 How advocates can spread the word about this life-saving option 🌍 Learn more about MedsPartner: https://www.medspartner.com 📝 Contact: connect@medspartner.com 📲 Follow: @medspartner on social media 🎙️ Listen to Rare Connection on Apple Podcasts, Spotify, Amazon Music & more 🎥 Watch more episodes here on the Rare Chef YouTube channel 🧡 Support the show: Buy Me a Coffee ⚠️ Trigger Warning: This episode includes discussions about treatment barriers, health inequity, and medical frustration. 🆘 If you are in crisis or need emotional support: 📞 Call or text 988 in the U.S. 📱 Or text HOME to 741741 for the Crisis Text Line You are not alone. #RareDisease #GlobalHealth #MedsPartner #DrugAccess #NamedPatient #JoannaBall #RareConnectionPodcast Support the show…
Send us a text What’s the difference between palliative care and hospice? Why is palliative care still misunderstood—and how can it support people with cancer, rare diseases, and other serious conditions long before end-of-life? In this powerful episode of Rare Connection, host Joanna Ball welcomes Ann, a licensed psychotherapist, breast cancer survivor, and caregiver to her husband who is living with metastatic prostate cancer. Anne is also the clinic manager and palliative care social worker for the Motion Picture Television Fund, where she supports members of the entertainment industry through emotional and practical challenges. Together, they discuss: What palliative care really means (and how it differs from hospice) The emotional rollercoaster of becoming an “emerging caregiver” Panic, anxiety, and anticipatory grief in the face of serious illness How rare disease and cancer communities can benefit from early palliative support Why storytelling and digital advocacy matter—on TikTok and beyond 📲 Follow Anne on TikTok: @annefrontlmft 🧠 Learn more about the Motion Picture Television Fund: https://mptf.com 💬 Comment below if this conversation resonates with you. 📩 Send me a text using the link in the show notes if you're listening to the audio version. 🔔 Don’t forget to subscribe to Rare Connection and my YouTube channel, Rare Chef, for more real conversations with rare disease warriors, caregivers, and medical professionals. 👍 Like | 💬 Comment | 📢 Share Chapter Markers 00:00 Welcome 00:18 Today's Topic 00:35 Introducing Anne Front LFT 01:22 What is covered in this episode 01:36 Emotional content disclaimer 01:58 Anne's Journey 04:18 Anne's Cancer Diagnosis 05:19 Life During COVID 06:59 How Telehealth helps 07:42 Palliative Care Vs Hospice 11:32 Palliative Care has a full team 13:23 Misunderstanding palliative care 15:30 Benefits of palliative care for a condition that isn't terminal 00:18:00 Back and fourth between Hospice and palliative care 19:35 dealing with grief 23:37 Emerging Caregiver 4:56 Advanced directives 00:25:00 Maintaining Safety 00:25:45 caregiver support 26:32dealing with caregiver burnout & self care 27:37 support groups & hobbies 29:18 Keeping up with medical appointments 30:17 Asking for Help 32:56 Anne's Role at the Motion Picture Television Fund 34:38 Anne's TikTok Vlog 36:02 TikTok feedback 36:56 understanding Palliative care 38:38 Why it is important to talk about your feelings 39:02 Finding palliative care in your area 39:55 conclusion Support the show…
Send us a text In this powerful episode of Rare Connection, host Joanna Ball sits down with special needs mom and author Keyundra, who shares the emotional and medical journey of her son Zaire — a child living with multiple rare conditions, including: 🫁 Laryngomalacia – a rare airway disorder 🦠 Neutropenia – a rare immune disorder 🧬 TNRC6B gene mutation syndrome – linked to autism, ADHD, global developmental delays, feeding challenges, and behavioral conditions like OCD, ODD, and bipolar disorder Keyundra is the author of the children’s book Zaire’s Big Feeling About Feeding, which helps children and families talk about the emotional side of medical feeding challenges. In this interview, she opens up about parenting through uncertainty, advocating for her son’s needs, and writing her way through grief and growth. 👉 What You’ll Hear In This Episode: How Zaire’s rare diagnoses unfolded The daily impact of neutropenia and feeding difficulties What TNRC6B gene mutations mean for development and behavior How storytelling helps families cope and connect Why World Airways Day (July 10) matters to this conversation 🔗 Resources Mentioned in This Episode: 📘 Zaire’s Big Feeling About Feeding – https://www.amazon.com/Zaires-Big-Fee... 🌐 Learn more about laryngomalacia: https://copingwithlm.org 🌐 Neutropenia support: https://neutropenianet.org 🌐 TNRC6B info: https://rarediseases.info.nih.gov 👍 Like this video 📲 Subscribe to my channel Rare Chef for more episodes, cooking videos, and rare disease stories 💬 Drop a comment to share your thoughts or support for Keyundra and Zaire 📩 Prefer to listen? Audio show available on all major podcast platforms 📱 Text me your thoughts or questions through the link in the show notes! 💙 Mental Health Resources If you or someone you know is struggling, the 988 Suicide & Crisis Lifeline is here for you. 📞 Call or Text 988 | 💻 Chat at Support the show…
Send us a text In this episode of Rare Connection , host Joanna speaks with Stephanie from the EveryLife Foundation for Rare Diseases , who shares her journey living with Idiopathic Intracranial Hypertension (IIH) —a rare neurological disorder involving increased pressure around the brain with no detectable cause. Stephanie opens up about the long path to diagnosis, the life-altering symptoms of IIH, and how she eventually accessed treatment through an off-label use of a GLP-1 weight loss drug —a medication not FDA-approved for IIH, but one that is showing promise in reducing spinal fluid pressure in patients. She discusses the immense challenge of navigating insurance to access this treatment and what others might expect if considering a similar path. In addition to sharing her personal health story, Stephanie discusses her powerful work as the program manager of the Rare Artist Program and Rare Disease Scholarship Program at the EveryLife Foundation. These initiatives uplift voices in the rare disease space through creativity and education, offering platforms for patients and caregivers to thrive. 🎯 In This Episode: What it’s like to live with Idiopathic Intracranial Hypertension (IIH) The role of GLP-1 medications in off-label treatment of IIH The fight to get off-label treatments covered by insurance How art and advocacy helped Stephanie regain purpose Ways to get involved in the Rare Artist Program and Rare Disease Scholarship 🔗 Links & Resources: EveryLife Foundation: https://everylifefoundation.org Rare Artist Program: https://rareartist.org Rare Disease Scholarship: https://everylifefoundation.org/rare-scholarship More on GLP-1 drugs and IIH: https://pmc.ncbi.nlm.nih.gov/articles/PMC10151178/ 💬 Join the Conversation: Leave a comment on YouTube Or send Joanna a text using the link in the show notes! 📱 Follow Rare Connection: Facebook: https://www.facebook.com/profile.php?id=100095564621062 X (formerly Twitter): https://x.com/Rare_Connection LinkedIn: Rare Connection Inc. 🛒 Support the Show: Grab Rare Chef merch: https://www.bonfire.com/invisible-disability-rare-disease-awareness/ Or click the Support the Show link in your podcast app 📞 Mental Health & Crisis Support: If you're struggling, you are not alone: Call the Suicide & Crisis Lifeline at 988 Or text HELLO to 741741 to reach the Crisis Text Line Chapter Markers 00:00 Intro 00:44 Medical disclaimer 00:56 Introducing Stephanie 01:52 diagnosis story 02:33 Right eye goes lazy 02:58 Doctor orders MRI 03:10 Stephanie passes out 03:35 Spinal Tap 05:08 Diamox prescribed 05:46 Learn Support the show…
Send us a text In this powerful episode of Rare Connection , we meet Paul , the president of Cure CLCN6 and the father of Paxton , a young boy diagnosed with an ultra-rare visit mutation on the CLCN6 gene . Paxton’s journey began with developmental delays and years of unanswered questions. After extensive genetic testing, his family finally received a diagnosis—one so rare that few doctors had even heard of it. Today, Paul is leading the charge to raise $1.5 million to fund a life-saving gene therapy that could offer Paxton a chance at a better future. Bisit cureclcn6.org for more information. To donate click the following link to be taken to their Go Fund Me account. https://www.gofundme.com/f/donate-to-fund-paxtons-critical-gene-therapy?attribution_id=sl:c0d715d3-a026-4505-8dfa-52ec45d605f6&utm_campaign=man_sharesheet_dash&utm_medium=customer&utm_source=copy_link Cure CLCN6 is a recognized 501c3 If you are interested in purchasing one of my t-shirts click the link below for my bonfire account. https://www.bonfire.com/invisible-disability-rare-disease-awareness/ Support the show…
Send us a text In this episode of Rare Connection , host Joanna speaks with Regina , a sarcoidosis patient, author, and creative advocate who’s transforming her personal health journey into a source of awareness and empowerment. After her sarcoidosis diagnosis, Regina launched UniquelySarc , a handmade earring line dedicated to raising sarcoidosis awareness. She is the author of To Hell with Sarcoidosis and Other Illnesses and actively supports the rare disease community by moderating the AnCan sarcoidosis support group and leading a creative writing class to help others process their own journeys. This conversation explores the power of creativity, self-expression, and community support in navigating life with a rare disease. ✅ In This Episode, You’ll Learn: Regina’s personal journey to a sarcoidosis diagnosis How art and writing became part of her healing The mission behind UniquelySarc and her book Why peer support groups are essential How creative outlets can help rare disease patients find their voice 💬 Stay Connected: Subscribe to Rare Connection wherever you listen to podcasts Follow Rare Connection on Facebook, X, and LinkedIn Text me: Reach out directly using the link in the show notes Subscribe to my YouTube channel: Rare Chef 🧠 Listener Bonus: There’s a quiz based on Regina’s answers available in the Community tab on YouTube and in the show notes—test your knowledge and keep the conversation going! ⚠️ Medical Disclaimer: This podcast is for educational and awareness purposes only and should not be used as medical advice. Always consult your healthcare provider for your individual medical needs. 💛 Suicide Prevention Resources: If you or someone you know is struggling: Call or text 988 for the Suicide & Crisis Lifeline Text “HELLO” to 741741 to reach the Crisis Text Line You are not alone. Help is always available. Support the show…
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1 Glutaric Acidemia 1 with Serena From New Zealand 2nd Anniversary episode 1:18:06
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Send us a text In this special Rare Connection Live episode, host Joannal celebrates 2 years of amplifying rare voices by welcoming Serena , a rare disease advocate and parent from New Zealand. Serena’s daughter lives with GLUT1 Deficiency Syndrome , a rare metabolic disorder that impairs glucose transport to the brain — leading to seizures and neurodevelopmental challenges. One of the most critical treatments? A clinically managed ketogenic diet , tailored specifically for medical use. Together, we discuss: 🧠 What GLUT1 Deficiency is and how it’s diagnosed 🥣 How the medical ketogenic diet supports brain energy metabolism 🌍 Differences in access and support between New Zealand and the U.S. 🏫 Serena’s work supporting new families through Starship Hospital and advocating for rare children in schools 📜 The ongoing fight to pass the Medical Nutrition Equity Act in the U.S. Whether you’re a clinician, parent, caregiver, or advocate — this episode offers critical insights into the lived experience and nutritional treatment of GLUT1 DS. 📌 Note : This conversation is for informational purposes only and should not be used as medical advice. Always consult a qualified healthcare provider. 🔗 Support the Show: [Insert support link] 📲 Follow Rare Connection on Facebook, X, and LinkedIn 🎧 Subscribe to the podcast and to Joanna’s YouTube channel, Rare Chef , for more rare disease stories Support the show…
Send us a text In this episode of Rare Connection , host Joanna sits down with Tami — a teacher, advocate, and mother of 7-year-old Jonathan, who lives with a rare ANK3-related disorder. Tami shares her family's diagnostic journey, how Jonathan's multiple conditions impact their daily life, and how she balances caregiving with her work in early childhood education. We discuss: Jonathan’s rare disease diagnosis and overlapping conditions (including hypotonia, autism, ADHD, and more) The emotional and logistical challenges of raising a child with multiple complex needs Tami’s insights as a teacher working with children ages 6 weeks to 5 years old Feeding and nutrition struggles, sensory issues, and strategies that help The power of advocacy and community support Tami’s involvement with Wichita’s Littlest Heroes , Meaningful Life Foundation , and Challenge Games Whether you're a parent, caregiver, educator, or rare disease advocate, this episode offers insight, encouragement, and practical wisdom. 🔗 Links & Resources Wichita’s Littlest Heroes: https://www.wichitaslittlestheroes.com Meaningful Life Foundation: https://www.meaningfullifefoundation.com Challenge Games: https://www.challengegames.org Join the Rare Connection Facebook Group: [Facebook Group Link] Support the Show: [Your Buzzsprout “Support the Show” link] Send Me a Text: [Your “Send Me a Text” link] 👕 Shop Awareness Merch Check out the t-shirt I designed to raise awareness for invisible disabilities and rare diseases — available for worldwide shipping: [Bonfire merch link] 📱 Follow & Subscribe YouTube: Rare Chef Podcast: [Rare Connection] Facebook, X, LinkedIn: @RareConnection 🧠 Mental Health Support If you or someone you know is struggling, call or text 988 for the Suicide & Crisis Lifeline — available 24/7 in the U.S. Support the show…
Send us a text 🧠 Mental health is rarely optional when you're living with a rare disease. Join Joanna, host of Rare Connection , for a powerful live conversation with Frank , a rare disease patient and mental health advocate who's working to make support more accessible for our community. 🌍 Living with sarcoidosis and other chronic conditions, Frank brings a deeply personal and professional perspective. He recently moderated a panel on mental health at the World Orphan Drug Congress USA and is now leading efforts to help rare disease patients find affordable, qualified mental health care providers. 📊 Did you know? 75% of rare disease patients report symptoms of anxiety Over 66% experience depression Many are bullied, misunderstood, or feel completely alone 🎧 In this live episode, we’ll explore: How rare diseases impact mental health Why so many patients feel dismissed or isolated What it will take to get emotional support to those who need it most How YOU can help push for mental health equity in rare care 💬 Ask questions live in the chat, and be part of this important conversation. 🔔 Subscribe to Rare Chef so you don’t miss the live broadcast or future episodes. 📌 Resources & links will be available in the video description after the stream. 📲 For audio listeners, check your show notes to send me a text or support the show. 📣 Let’s break the silence around rare disease and mental health. See you live! #RareConnection #RareDisease #MentalHealthMatters #Sarcoidosis #RareChef #PatientAdvocacy #YouAreNotAlone Support the show…
Send us a text In this episode, I sit down with Brenda , a woman navigating the challenges of a painful, disabling, and unnamed orphan disease . Despite testing negative for VEXAS, relapsing polychondritis, and MAGIC syndrome, Brenda continues to suffer from spontaneous tendon tears and systemic inflammation. One key clue? She is HLA-B27 positive , a genetic marker linked to certain autoimmune conditions — but her exact diagnosis remains elusive. 💡 In this episode, you’ll learn: What HLA-B27 is and why it matters in autoimmune diagnosis How spontaneous tendon ruptures can signal a deeper immune issue What it’s like to live with a disease that has no name Why orphan disease patients often go years without answers How Brenda is advocating for herself and others despite uncertainty Where to find support and resources for HLA-B27–associated conditions Stay Tuned for a quiz at the end of the episode. Test Your knowledge Play with friends and compete to see who gets the most answers right. Answers will be video only on my socials. See below 🔔 Subscribe for more interviews with patients, advocates, and experts from the rare disease community! 👍 Like, Comment, and Share to support rare voices. 📩 Text me directly with your thoughts or questions: [Insert your link here] 🔗 Connect with me: 🌐 Website: rareconnection.org 📘 Facebook: [Rare Connection Facebook] 🐦 X (Twitter): [@Rare_Connection] 💼 LinkedIn: [Rare Connection Inc. or Joanna Ball] 🍳 Subscribe to my YouTube channel: [Rare Chef] ⚠️ Medical Disclaimer: This podcast is for informational purposes only and should not be considered medical advice. Always consult a qualified healthcare professional before making any changes to your health or treatment plan. 💙 Mental Health Resources If you're struggling, you're not alone. Help is available 24/7. 📞 In the U.S., dial 988 or text HELLO to 741741 . Support the show…
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1 Neuromyoitis Optica with Nicki From New York 1:36:49
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Send us a text In this episode of Rare Connection , host Joanna Ball speaks with [Guest Name], who shares their powerful journey with [Rare Disease]. Together, they discuss diagnosis challenges, treatment paths, daily life, and advocacy work. Whether you're a patient, caregiver, medical professional, or just curious—this conversation brings rare insight into a rarely understood condition. 💡 New! Listener Quiz Stick around to test your knowledge with a short quiz at the end of the episode! It's a great way to stay engaged, especially with our new premium content rolling out soon on Apple Podcasts. 📺 Watch & Subscribe This episode is available on YouTube at Rare Chef , Joanna’s advocacy and cooking channel. All content will now be posted here instead of TikTok Live, as live streaming has been paused due to age verification delays. 📲 Follow Joanna Online YouTube : Rare Chef (subscribe for full episodes & Shorts) TikTok : @joannaball1 (Shorts only; no livestreams) Facebook : Joanna Ball LinkedIn : Joanna Ball or Rare Connection Inc. X (Twitter) : Rare Connection Inc. 👕 Support the Show Through Merch! Get a shirt from our Bonfire shop under Rare Chef —with designs for Rare Connection , Rare Chef , and invisible illness awareness. Proceeds help fund groceries for Joanna’s cooking videos and keep the channel going. 🎧 Premium Episodes Some episodes may appear as premium audio on Apple Podcasts for $3 , but older episodes will remain free. Your support keeps rare stories heard. 💬 Want to help? Use the Support the Show link in the audio show notes Comment on the YouTube video to keep the conversation going ⚠️ Disclaimer : All content is for educational and awareness purposes only. Always consult a qualified medical professional for health decisions. Please do not offer medical advice in the comments—even if you're a healthcare professional. 🧠 Suicide Prevention Resources Call or text 988 Text HOME to 741741 (Crisis Text Line) Support the show…
Send us a text In this milestone 50th episode of Rare Connection , host Joanna sits down with Jenny, the powerful voice behind the blog Life’s A Polyp . Diagnosed with Familial Adenomatous Polyposis (FAP) as a child, Jenny underwent a total colectomy at age 9, followed by a series of life-threatening complications that led to multiple surgeries, an ileostomy, a reversal, and eventually the diagnosis of Short Bowel Syndrome (SBS) — one of the conditions covered in the proposed Medical Nutrition Equity Act (MNEA) . Jenny opens up about: Her early diagnosis with FAP and its impact on her childhood Coping with surgical trauma and living with medical PTSD Her ileostomy and pull-through procedures Life with Short Bowel Syndrome and daily nutritional challenges The importance of access to medical foods and legislative change through the MNEA Advocating through her blog and building community for others with rare GI conditions Finding diagnosis for a lesser-known condition: abdominal migraines Jenny’s story is raw, insightful, and a powerful reminder of why visibility for invisible illnesses matters. 📌 Connect with Jenny: 🔗 Blog: Life’s A Polyp 📲 Join the Conversation & Support the Show 💬 Comment on this episode: Watching on YouTube? Comment below! 👕 Wear your advocacy : Order our new Rare Disease & Invisible Disability Awareness t-shirt — ships worldwide! Only $24.99 + shipping . [Link in show notes] https://www.bonfire.com/invisible-disability-rare-disease-awareness/ 📱 Follow Rare Connection: Facebook Group:https://www.facebook.com/groups/3802022513417876 Facebook Page:https://www.facebook.com/profile.php?id=100095564621062 X (Twitter): https://x.com/Rare_Connection LinkedIn: https://www.linkedin.com/company/rare-connection-inc YouTube Channel:https://www.youtube.com/@Rare_Chef 🧠 Mental Health & Suicide Prevention If you’re struggling, you're not alone. 📞 Call 1-800-273-TALK (8255) or 📱 Text 988 for free, 24/7 support in the U.S. Support the show…
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1 From Researcher to Lymphocytic Colitis Patient Ben From South Dakota 1:29:05
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Send us a text In this episode of Rare Connection , I sit down with Ben, a rare disease researcher and advocate with over 15 years of experience in cell and molecular biology, clinical research, and leadership. Ben shares his personal journey living with lymphocytic colitis and oral lichen planus—two often misunderstood conditions—and his professional insights from working on projects like the CoRDS Rare Disease Registry and the Experimental Therapeutics Screening Facility at Sanford Research. We talk about his path into research, how rare and overlooked diseases are studied, and the realities of living with chronic and invisible illnesses. We also touch on the importance of access to medical nutrition and support for rare disease patients. This conversation is for educational and informational purposes only and should not be considered medical advice. Always consult your healthcare provider for personal medical care. ✨ Rare Connection is available on YouTube and wherever you get your podcasts! Follow us on Facebook, X (formerly Twitter), LinkedIn, and join our private Facebook group for more rare disease community support. 💬 Comment below or send me a text through the link in the show notes if you want to connect! 🛒 Check out our new Invisible Disability Awareness t-shirt on Bonfire, combining the sunflower (for invisible disabilities) and the zebra (for rare diseases)! Link in the description. https://www.bonfire.com/invisible-disability-rare-disease-awareness/ ❤️ If you’d like to support the show financially, there’s also a 'Support the Show' link in the show notes. 📞 If you or someone you know is struggling, help is available. Call or text the Suicide and Crisis Lifeline at 988 Text HOME to 741741 to reach a trained crisis counselor. Thank you for being part of Rare Connection ! #RareDisease #InvisibleDisability #PatientAdvocacy #LymphocyticColitis #OralLichenPlanus #RareConnection #RareChef Support the show…
Send us a text Melissa was 17 when she had her first child Evan. Evan was born with a cleft palate and developed 30 other conditions throughout his life. He wasn't expected to live and doctors told her to take him home and let him pass naturally. She was given what she calls a never list (He will never sit up, he will never talk, he will never stand etc). She was told she could have other children. When she did become pregnant again when she was older in life she had an abortion, Her and her husband used protection, but she still got pregnant. Four months after Evan's birth he was diagnosed with a rare chromosomal condition that 4q deletionoesn't have a name. She refers to it by the genetic code, 46xy 4q (32.3) 4 6 Trisomy. Everyone has 46 chromosomes 23 from each parent. The xy chromosome is the male chromosome ( This condition is passed down from the father). Chromosomes are divided into arms The q arm is the long arm and the p arm is the long arm. 4q32.3 refers to the specific region of the long arm of chromosome 4. 4q deletion refers to an additional deletion of chromosome 4 on the long arm. 4q deletion causes growth delays, facial differences (Evan has stork bites which look like a rash, and cleft palate so he is on a feeding tube (g0-tube) , intelectual disabilities (Evan has autism and heart defects ( Evan had an enlarged heart which is now healed since his diagnosis with Carnatine deficiency ( an inborn error in metabolism) a Trisomy is a duplicate chromosome (much like with down syndrom has a extra 21st chromosome, No 2 people have the same genetic code unless they are identical twins, so this condition will likely never have a name. Without a name it will likely never have a treatment, thier are even more than the average financial burdens associated.. 'whereas it is typical for rare disease patients to feel alone, since they don't know anyone with thier condition normally. This is even more likely in people with conditions like Evan's. 30 Million people have a rare condition in the US alone 400 million worldwide, 1 in 200,000 is considered rare, where as 1 in 50,000 is considered ultra rare. Rare realy is not rare. The mascot for rare conditions is a zebra because no to zebras have the same pattern. A common condition is known as a horse. Thier is a saying i the medical field "if you hear hoof beats think horses, not zebras." Combined rare conditions are more common than strokes and cancer combined. Only 5% of rare conditions have an FDA approved treatment. I do this podcast primarily to educate on rare diseases. Doctors need more thana paragraph in a textbook. People living with rare diseases are not likely to be taken seriously either. A lot of rare disease patients are told it is all in your head. Doctors don't have the time to learn about every rare condition nobody does their are to many of them. With over 10,000 rare condions it would take a lifetime to cover them all. Check out Melissa's book Who Cares? Available on Amazon and Barnes and Nobel. Please Subscribe to my YouTube channel Rare Chef and My podcast Rare Connection. Please also leave a comment I would love to know your thought of these episodes. #chromosomaldefect #rarediseases #4qdeletionsyndrome #ehelersdanlossyndrome #autism #storkbites #piererobin'ssyndrome #eggallergy #feedingtube #carnatinedeficiency #teenpregnancy #disability Support the show…
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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. Support the show…
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Rare Connection

1 Cerebral Cavernous Malformation With Elizabeth From Oregon and Allison from DC 2:19:52
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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. Support the show…
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1 Amazing Ways tech is helping people with rare disease! 1:03:35
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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! 0:00:00 Intro 0:02:38 Why it is so hard to identify rare disease patuents in traditional healthcare systems 0:06:17 How gaps in medical records & diagnosis codes Impact access to treatment 0:11:15 barriers patients face when enrolling in clinical trials 0:14:46 gaps in medical Records 0:18:17 How AI & advanced data Analytics are revolutionizing healthcare 0:23:02 How Kythera labs is helping rare disease patients 0:26:24 Examples of how AI has sped uo access to treatment 0:29:21 How Kythera's platform improves the efficuency of clinical trials 0:32:59 How AI can help pharmeceutical companies develop treatments faster 0:34:30 Promising trends & breakthroughs in how AI is shaping drug discovery 0:41:07 How real wirld data is expanding treatment options for rare disease patients 0:45:45 How real World data can benefit patient advocacy groups benefit from data driven insites 0:49:23 Jeff's Prediction for how AI will shape the future over the next 5 to 10 years 0:50:53 balancing patient data with concerns about privacy consent 0:53:51 safe guards to ensure ethical use of data in rare disease research 0:55:31 advice to rare disease patients 0:58:36 How you can get involved with Kythera Labs 1:00:38 How you can stay up ti date on Kythera's work 1:02:16 conclusion Support the show…
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1 Sjogren's Syndrome with Mimi From Florida 1:24:05
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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. Support the show…
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Rare Connection

1 Alpha 1 Atrypsijn Deficiency With Mr,. Ohh From Ohio 1:11:43
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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 Support the show…
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1 Hemochromatosis With Michael from Guatemala 2:04:22
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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 Support the show…
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1 Acromegaly With Risa From Colorado 1:04:54
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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. Support the show…
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 Support the show…
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1 Superficial Siderosis With Rori From Texas 1:13:08
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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 advocates like Rori. Support the show…
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 Support the show…
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 Support the show…
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Rare Connection

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 Support the show…
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Rare Connection

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> Support the show…
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Rare Connection

1 Chronic Intestinal Pseudo Obstruction With Briana From Ohio 1:13:12
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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. Support the show…
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Rare Connection

1 Dyskeratosis Congenita with Damien from Arizona improved sound from live 1:13:28
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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. Support the show…
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