Rare Connection

Send us Fan MailWhat does it really take to maintain independence when your body is changing?For people living with rare diseases, that question becomes part of everyday life—navigating changes in mobility, access to care, and the challenge of finding the right support.In this episode of Rare Connection, I speak with Alexis Baker, who shares her journey to a diagnosis of Friedreich's ataxia, a rare, progressive condition that affects coordination, balance, and independence. Like many in the rare disease community, Alexis went through multiple doctors and specialists before genetic testing provided answers.We also take a moment to clarify an important distinction: “ataxia” is a symptom—referring to loss of coordination—while Friedreich’s Ataxia is a specific genetic disease that many people may not recognize until it impacts someone they know.But Alexis’s story doesn’t stop at diagnosis.She turned her experience into purpose by founding RiseUp, a nonprofit focused on helping people access mobility devices like walkers and wheelchairs—tools that can restore independence but are often out of reach due to cost.In this conversation, we discuss: The early signs and long road to diagnosis  What it’s like living with Friedreich’s Ataxia day to day  The challenges of mobility, safety, and maintaining independence  Barriers to accessing mobility equipment—and why patients often have to adapt  The reality that many rare disease patients must travel long distances to reach specialists, often at academic medical centers  And how new treatment options like Skyclarys are beginning to change the outlook for the FA community This episode highlights a reality many patients face: access to care isn’t just about finding a doctor—it’s about being able to get there, having the right equipment, and having a community that understands the journey.Support the show

Send us Fan MailElisa's son, Aidan, was born healthy—but by first grade, he began losing his vision. He was later diagnosed with adrenoleukodystrophy (ALD), a rare genetic condition that progresses rapidly without early intervention. Aidan passed away at just 7 years old.After his diagnosis, Elisa learned that a newborn screening test for ALD already existed—but it had not been implemented in her state at the time.In this episode, Elisa shares Aidan’s story and how she turned her grief into advocacy. She played a key role in passing ALD newborn screening in New York and is now advancing Aidan’s Law (H.R. 534) to expand screening nationwide.We also discuss her work with the newly launched coalition, Surge to Save Newborns, and a first-of-its-kind study outlining state-by-state gaps in newborn screening and the resources needed to ensure all babies have access to recommended tests.This conversation highlights a critical issue: babies across the United States face unequal access to life-saving screening based solely on where they are born.ALD Alliance- Aiden Jack Seegar Foundation ALD Alliance - Aidan Jack Seeger Foundation for AdrenoleukodystrophySurge to Save Home - Surge to Save NewbornsSupport the show

Send us Fan MailWhat does life look like decades after a rare cancer diagnosis—and how does food play a role in that journey?In this episode of Rare Connection, Joanna sits down with Chuck Hayworth, a 26-year survivor of a rare stomach tumor, whose experience transformed not only his health—but his life’s work.Today, Chuck is a private chef and Medical Meal Therapy specialist, helping patients and caregivers navigate one of the most overlooked challenges after diagnosis: how to actually implement nutrition in daily life.Because while many patients are told what they should eat, very few are given the tools to make that sustainable—especially when managing chronic illness, cancer recovery, or complex medical conditions.Together, they discuss: What it means to truly live beyond a rare disease diagnosis  The connection between gut health, inflammation, and recovery Why nutrition is often the missing link between medical advice and real life  How patients and caregivers can align their meals during treatment and healing  The challenges of turning clinical guidance into practical, everyday food choices This conversation also highlights a broader issue within healthcare—while policies like the Medical Foods and Formulas Access Act support individuals with certain conditions requiring specialized nutrition, many patients outside of those categories are still left trying to navigate these decisions on their own.Chuck’s story is one of resilience, adaptation, and purpose—and a reminder that healing doesn’t always follow a straight path.💬 Join the ConversationIf this episode resonates with you, we’d love to hear from you. 🎧 Follow and subscribe to Rare Connection 📺 Watch full video episodes on YouTube at Rare Chef 💬 Leave a comment or use the “Send Me a Text” link in the show notes ⚠️ DisclaimerThis podcast is for educational purposes only and is not intended to replace medical advice. Always consult with a qualified healthcare professional regarding your individual health needs.💛 You Are Not AloneIf you or someone you know is struggling, support is available. In the U.S., you can call or text 988, the Suicide and Crisis LiSupport the show

Send us Fan MailWhat if two of your children were diagnosed with two completely different rare genetic conditions… on the same day?In this episode of Rare Connection, I speak with Jenny, a mother of four, whose children Avery and Paxton were both diagnosed through whole exome sequencing with two separate rare diseases — Phelan-McDermid Syndrome and Tatton Brown Rahman Syndrome. Both conditions are genetic, but not inherited. They are de novo mutations, meaning they occurred for the first time in her children.Avery, now 19, has Phelan-McDermid Syndrome, a condition often associated with autism, developmental delay, speech impairment, and hypotonia. Paxton, 12, has Tatton Brown Rahman Syndrome, a rare overgrowth and neurodevelopmental disorder linked to developmental differences, autism traits, and intellectual disability.Jenny shares what it was like to receive both diagnoses at once, how her family adapted, and how her daughters Kaylin and Presley have become supportive siblings along the way. She also discusses her work as a behavior analyst and her advocacy efforts in the rare disease community, including her role with CureSHANK and support within the Tatton Brown Rahman Syndrome community.This episode highlights the reality that rare diseases don’t always follow predictable patterns—and that even across different diagnoses, families often share common experiences in navigating care, finding support, and building resilience.💬 Have a question or want to share your experience? Use the “Send Me a Text” link in the show notes.🔔 Follow and subscribe to Rare Connection so you don’t miss future episodes connecting patients, families, and professionals across the rare disease community.🌍 Rare Connection is available on YouTube, Buzzsprout, Apple Podcasts, Spotify, Amazon Music, and more.⚠️ Disclaimer: This podcast is for educational purposes only and is not intended to provide medical advice. Please consult a qualified healthcare professional for medical concerns.❤️ If you or someone you know is struggling, help is available. In the U.S., you can call or text 988 for the Suicide and Crisis Lifeline, or visit 988lifeline.org.Support the show

Send us Fan MailIn this episode of Rare Connection, I’m joined by physician-scientist and biotech CEO Dr. Steven Quay to discuss an emerging approach to treating Duchenne muscular dystrophy—and how innovation in one area of medicine may open doors for others.Dr. Quay is the CEO of Atossa Therapeutics, where his team is developing (Z)-endoxifen, a next-generation endocrine therapy originally studied in breast cancer. Unlike tamoxifen, which must be metabolized in the body, (Z)-endoxifen delivers the active compound directly—helping to reduce variability between patients and improve consistency in dosing and response.What makes this conversation especially important for the rare disease community is the potential application of this therapy in Duchenne muscular dystrophy. Research suggests that (Z)-endoxifen may help increase levels of utrophin, a protein that could compensate for the lack of dystrophin in individuals living with Duchenne.We also discuss:What makes Duchenne muscular dystrophy a target for this type of therapyThe significance of Orphan Drug DesignationHow drugs developed for one condition may have applications in othersThe challenges of bringing new treatments from research to patientsDuchenne muscular dystrophy affects approximately 1 in 3,500 to 5,000 boys worldwide, and while progress is being made, many families are still waiting for effective, accessible treatments.👉 Coming Next: During this conversation, Dr. Quay also introduced the potential application of (Z)-endoxifen in McCune-Albright syndrome, an ultra-rare condition. We’ll be continuing this discussion in a follow-up episode focused specifically on that topic.This episode offers insight into how innovation in drug development may create new possibilities—not only for Duchenne, but for the broader rare disease community.🔗 Support the ShowIf you’d like to support Rare Connection, you can use the “Support the Show” link in the show notes. Contributions help continue conversations like this and expand awareness for rare diseases.💬 Connect & ShareFollow Rare Connection on Facebook, X, and LinkedInWatch full episodes on YouTube at Rare ChefUse the “Send Me a Text” link in the show notes to share your thoughts or questions⚠️ DisclaimerThis podcast is for informational and educational purposes only and is not intended as medical advice. Always consult with a qualified healthcare professional regarding any medical condition or treatment.Support the show

Send us Fan MailWhat is it like to live with multiple rare brain malformations and severe epilepsy?In this episode of Rare Connection, Joanna speaks with Glenn Schallman, who has been diagnosed with three extremely rare neurological conditions:SchizencephalyPolymicrogyriaHypothalamic HamartomaFor more than fifteen years Glenn lived with 10–20 seizures every day, severe head pain, and neurological symptoms that dramatically impacted his life.Schizencephaly is an ultra-rare brain malformation that occurs during fetal development. It creates abnormal clefts in the brain, which can lead to symptoms such as:frequent seizures or epilepsymuscle weakness or paralysis on one side of the bodydevelopmental delaysspeech and communication difficultiescoordination and balance problemslearning disabilitiesBecause these symptoms can overlap with many neurological disorders, people often spend years searching for answers before receiving a diagnosis.Glenn’s case was especially complex because he also lives with polymicrogyria, a disorder that affects how the brain’s cortex folds, and hypothalamic hamartoma, a rare lesion that can trigger severe epilepsy.For years doctors believed his condition was inoperable.Everything changed in 2017 when neurosurgeon Dr. Michael Nakaji at the Barrow Neurological Institute performed a complex surgery to partially remove and disconnect the hamartoma. The procedure reduced Glenn’s seizures from dozens per day to just a few per week.Another extraordinary part of Glenn’s journey is his seizure-alert cat, Blake. Blake learned to detect Glenn’s seizures and wake him during dangerous episodes, and his lifesaving actions earned him the 2016 Humane Award from the ASPCA.Today Glenn continues to advocate for epilepsy awareness and rare brain disorders, sharing hope with others navigating complex neurological conditions.Topics Discussed• schizencephaly and brain malformations • epilepsy and frequent seizures • polymicrogyria and cortical development disorders • hypothalamic hamartoma • seizure alert animals • rare disease advocacy and resilienceConnect with Rare ConnectionFollow Rare Connection on Facebook, X, and LinkedIn.Video versions of the podcast are available on Joanna’s YouTube channel Rare Chef.Audio listeners can use the Send Me a Text link in the show notes to share feedback or ask questions.Suicide Prevention ResourcesIf you or someone you know is struggling, help is available.United States: Call or text 988 for the Suicide and Crisis Lifeline.Support the show

Send us Fan MailThis Rare Disease Awareness Month, I’m honored to share the extraordinary survival story of writer, performer, and patient advocate Taylor Coffman.After giving birth to her daughter, Taylor experienced a catastrophic medical crisis now being reconsidered by experts as pregnancy-induced complement-mediated thrombotic microangiopathy — a name that more accurately reflects what happens when childbirth triggers uncontrolled complement activation and widespread clotting.Historically, cases like Taylor’s were often labeled as “aHUS,” but many clinicians now believe that pregnancy-induced, complement-mediated clotting disorders represent a distinct subtype. There is no single diagnostic test for this condition. But there is lifesaving treatment — and early recognition is everything.Taylor's story could truly help someone else survive.Within hours of delivery, she developed systemic clotting, went into multi-organ failure, suffered a heart attack, and her kidneys shut down completely. She spent weeks near death in the ICU and required nine months of dialysis — yet she miraculously recovered without a transplant.One moment she shares is unforgettable: lying in the ICU, convinced the rhythmic clicking of the dialysis machine was repeating, “live or die… live or die.” In that moment, she made the decision to fight. Today, both she and her baby are alive.In this episode, Taylor opens up about: • How childbirth triggered a rare complement-mediated clotting disorder • Why experts want to rename this condition for better recognition • The challenges of diagnosing a condition with no definitive test • ICU trauma, hallucinations, and the mental fight to survive • Postpartum depression and the emotional reality of medical crisis • Dialysis, recovery, and the miracle of kidney healing • Motherhood, disability, identity, and rediscovering purpose • The one question that helped save her lifeTaylor’s journey is one of the most medically extraordinary stories we’ve ever shared on Rare Connection. It also carries a critical message for clinicians: if the name changes, early diagnosis may follow — and more patients could survive.Content NotesThis episode includes discussion of postpartum depression, ICU trauma, and medical emergencies involving childbirth. Please take care while listening.Connect With Rare ConnectionVideo versions of all episodes appear on YouTube under Rare Chef. Listeners can comment on YouTube or use the “Send Me a Text” link in the show notes.Follow Rare Connection on: • Facebook • X • LinkedInSupport the show and help amplify rare disease stories by sharing this episode.Suicide Prevention ResourcesIf you or someone you know is struggling, please reach out: • Call or text 988 in the U.S. • Text HOME to 741741 • International helplines: https://www.iasp.info/crisis-centres-helplines/You are not alone.Support the show

Send us Fan MailThis episode features Candace, who lives with spinal muscular atrophy (SMA), a rare genetic and progressive neuromuscular condition. Diagnosed at 18 months, she shared her early experiences growing up with SMA, including navigating mobility loss and accessibility barriers throughout childhood.Candace talked about her early career in the entertainment industry and the challenges she faced as a disabled Black woman, eventually choosing to leave the industry for a more stable career in public service. She now serves as the Chief Equity Officer for California’s Department of Rehabilitation.A lifelong advocate, Candace discussed her work in diversity, equity, inclusion, and accessibility, and the creation of her nonprofit, I Am Abled Inc., which supports young adults with disabilities transitioning into adulthood. She emphasized the importance of representation, community, and listening to patient experiences—especially for those living with progressive conditions like SMA.Candace also offered advice for families newly diagnosed with SMA, encouraging unconditional love, education, and support while highlighting the need for medical providers to recognize the emotional aspects of disability.Visit candiswelch.com for more informationSupport the show

Send us Fan MailIn honor of Rare Disease Awareness Month, this episode of Rare Connection explores one of the most urgent topics facing the rare and ultra-rare community: global access to clinical trials.Families around the world often discover that the only realistic path to treatment lies outside traditional U.S. research routes. Trials can require millions of dollars before enrollment even begins, leaving many conditions with no way forward. But around the globe, there are regions where early-stage studies can move faster, more affordably, and with greater flexibility — if families know where to look.Today’s guest, Julio Martínez-Clark, is the CEO of bioaccess®, Synapse Global Theranostics, and amavita Heart and Vascular Health®. He works across Latin America, the Balkans, and Australia to make clinical research possible for rare and ultra-rare conditions that might otherwise be left behind.In this conversation, Julio breaks down: • Why global trial sites can launch studies more quickly • How families and nonprofits can explore international options • What “trial acceleration” actually means • Safety considerations and red flags when evaluating overseas opportunities • How AI and new regulatory models are reshaping access to emerging therapies • Why international collaboration will play a major role in the future of rare disease treatmentWhether you're navigating a diagnosis with no treatment, advocating for research, or supporting someone with a rare or ultra-rare condition, this episode offers hope, direction, and practical insight into global options many families don't know exist.Follow Rare Connection on Facebook, X, and LinkedIn, and join our community Facebook groups: Rare Connection and The Adaptive KitchenIf you or soneone you know is struggling pkdzsd call or text 988 or Text home to 741741 .  Help is available 24/7Support the show

Send us Fan MailIss rare disease journeImagine waking up every day knowing even a light touch could cause your skin to tear or blister. That’s the reality for children and adults living with Recessive Dystrophic Epidermolysis Bullosa (RDEB) — a severe rare genetic condition where skin and mucous membranes are extremely fragile. In this episode of Rare Connection, host Joanna speaks with Professor Mark Lowdell — Chief Scientific Officer & Co-Founder of INmune Bio and Professor of Cell & Tissue Therapy at University College London — about a promising cell therapy called CORDStrom™, developed for RDEB and currently progressing through clinical development. GOSH Hospital site+1We discuss🔹 What RDEB is and how it affects daily life and long-term health MedlinePlus🔹 The science behind CORDStrom™ and its clinical trial results in pediatric RDEB patients inmunebio.com🔹 What it means to prepare a Biologics License Application (BLA) submission to the FDA and future regulatory milestones Patsnap Synapse🔹 The human stories behind the research and why this work matters for families living with rare disease💬 CONNECT & SHARE📌 Subscribe to Rare Connection — hit the button so you never miss an episode!👍 Like, Share & Comment — tell us what you thought or what you’d like to hear next!📌 Join the Rare Connection Facebook Group — a supportive space for patients, caregivers, and advocates.   https://www.facebook.com/groups/3802022513417876📌 Join the Addaotuve Kitchen Facebook Group — for people navigating multiple diets and shared meal ideas.  https://www.facebook.com/groups/13943332754051Support the show

Send us Fan MailIn this episode of Rare Connection, Joanna sits down with writer, photographer, paraeducator, and disability advocate Michelle Steiner to talk about life with dyscalculia, an often-misunderstood learning disability that affects number sense and math.Michelle shares her journey from being told she “couldn’t” — couldn’t go to college, couldn’t get a degree, couldn’t get published — to proving every one of those predictions wrong. Today, Michelle is a published author on platforms including The Mighty, Dyscalculia Blog, The Reluctant Spoonie, and the Non-Verbal Learning Project. Her photography has been featured in Word Gathering and Work Ready, and she now works as a paraeducator supporting students with disabilities.We discuss: • What dyscalculia really is • Early school struggles and the emotional impact • Accommodations that help • Advocacy, resilience, and overcoming doubt • Michelle’s creative work and her passion for helping others • The importance of understanding invisible disabilitiesThis is an empowering, heartfelt conversation for anyone living with a learning disability, parenting a neurodivergent child, or wanting to better support the disability community.🔗 Follow Rare Connection on social media 💬 Send Joanna a text (link in show notes) ❤️ Support the show 📺 Subscribe to Rare Chef on YouTubeIf you or someone you know is in crisis, dial 988 or text HOME to 741741.If you’d like, I can also create: ✅ YouTube description ✅ Thumbnail ideas ✅ Show notes ✅ A short intro you can read before hitting record Just tell me!You said:please include the Rare Connection Facebook Group and The Adaptive Kitchen my Facebook group for people with multiple diets.ChatGPT said:Absolutely — here is a polished Buzzsprout audio-only description that includes everything you requested: Michelle’s story, dyscalculia, Rare Connection FB Group, and The Adaptive Kitchen.Buzzsprout Episode Description (Audio Only)Title (optional if you want one): Living with Dyscalculia: Michelle’s Story of Resilience & AdvocacyDescription: In this episode of Rare Connection, Joanna sits down with Michelle Steiner, a writer, photographer, paraeducator, and disability advocate who has lived her entire life with an invisible disability — dyscalculia, a learning disability that affects math, numbers, and spatial reasoning.Michelle shares how she was repeatedly told what she couldn’t do: ➤ She’d never go to college. ➤ She’d never earn a degree. ➤ She’d never build the career she wanted. ➤ She’d never become a published writer.She proved every one of those predictions wrong.Today, Michelle holds a bachelor’s degree in Community Programming for Americans with Disabilities from Slippery Rock University. Her writing has appeared in The Mighty, Non-Verbal Learning Project, Dyscalculia Blog, The Reluctant Spoonie, Kalopina Collective, Imagine the World as One Magazine, and Word Gathering. Her photography has also been featured in Word Gathering Independent and Work Ready. She now works as a paraeducator supporting students with disabilities — work that allows her to give back and advocate for others facing similar challenges.In this conversation, Michelle opens up about: • What dyscalculia really is (and how misunderstood it often is) • How it shaped her childhood, Support the show

Send us Fan MailIn this powerful episode of Rare Connection, Joanna Ball speaks with Saida Mahoney — a beauty queen, author of nine books, athlete, performing artist, and National Rare Disease and Disability Advocate living with Partial Trisomy 8q Duplication Syndrome, an ultra-rare genetic condition.Saida shares her journey growing up with neurological challenges and multiple types of epilepsy, including focal, grand mal, idiopathic, and absence seizures. Her story is one of resilience, faith, and advocacy — showing the world that rare disease and disability don’t define a person’s worth or strength.💜 Topics Discussed:Living with Partial Trisomy 8q Duplication SyndromeNavigating life with epilepsy and neurological symptomsThe importance of epilepsy awareness in the rare disease and IDD communitiesFinding identity and purpose through advocacyUsing creativity, education, and pageantry to empower others📚 Saida Mahoney’s eBooks on WattpadExplore Saida’s inspiring writing and advocacy through her online books:Overcoming the Challenges: The Journey of Becoming Strongerhttps://www.wattpad.com/story/394759652-overcoming-the-challenges-the-journey-of-becoming?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Blue and Gold Warrior Who Became Stronger and Wiser\https://www.wattpad.com/story/296241094-the-blue-and-gold-warrior-who-became-stronger-and?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Golden Super Hero Who Fought The Battlehttps://www.wattpad.com/story/328033386-the-gold-superhero-who-fought-the-battles-won?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Girl With Yhe Golden Braveheart Hearthttps://www.wattpad.com/story/323430217-the-girl-with-the-golden-braveheartutm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Golden Brave Champion: Overcoming the https://www.wattpad.com/story/301998758-the-golden-brave-champion-overcoming-the?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Superhero With The Blue Hearthttps://www.wattpad.com/story/307735090-the-superhero-with-the-blue-heart?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Super Hero Dreamed And https://www.wattpad.com/story/277474638-the-super-hero-who-dreamed-and-persevere?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Blue And Read Angel: Battle Onhttps://www.wattpad.com/story/304782879-the-blue-and-red-angel-battle-on?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Glden Angel Who Survived The Battleshttps://www.wattpad.com/story/293938115-the-golden-angel-who-survived-thebattlesutm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaSurviving: Made The Battle To Becoming https://www.wattpad.com/story/259234397-surviving-made-to-battle-and-becoming-resilient?utm_source=ios&utm_medium=Support the show

Send us Fan MailIn this episode of Rare Connection, I talk with Jillian Kavanagh, a nurse practitioner and parent to Ellie, who was diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS) at age 4. With only about 300 known cases worldwide, OCNDS is an ultra-rare genetic condition caused by variants in the CSNK2A1 gene.Jillian shares the challenges of Ellie’s early epilepsy diagnosis, the long road to genetic testing, and how life changed after finally receiving answers. As a founding member of the CSNK2A1 Foundation, she is working to bridge the gap between the medical community and the families affected by OCNDS.💡 What you’ll learn in this episode:What OCNDS is and how it’s diagnosedThe struggles parents face navigating rare disease careWhy genetic testing is critical — and often out of reach for many familiesHow Jillian uses her professional and personal experience to advocate for change🔗 Learn more about OCNDS: CSNK2A1 Foundation https://www.csnk2a1foundation.org/👉 Don’t forget to subscribe to my channel Rare Chef for more episodes, cooking videos, and rare disease advocacy content. Comment below to share your thoughts, or use the “Send Me a Text” link in the audio show notes to connect directly.Support the show

Send us Fan MailIn 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.Are you looking for something to lift a loved one that is not as big as a Hoyer Lift?  Now their mechanical lifts that go on a track on the ceiling.  Ask your state case manager if they will fund it?  if not financial aid is available.  https://www.surehands.com/products/ceiling-track-railsResources & 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_webinarSupport & 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 LinkedInMental Health Support: If you or someone you know is struggling, call or text 988 in the U.S. for 24/7 confidential help.Chapter Markers00:00 Intro02:16 What is IRF2BPL (NEDAMSS)05:37 How Long ago was the name change08:49 Special Diet?10:38 Treatment15:07 Elly's path to gene therapy19:40 Role of Weill Cornell in making gene therapy happen22:20 Letter from the Krueger Family26:05 Bring gene therapy from one patient to many30:09 Get involved with Elly's team31:54 Importance of Collaboration between researchers and families32:19 What gives Liz the most hope?34:01 Advice to other families waiting for a breakthrough in their child's condition35:07 Many state Medicaid programs will pay for one piece of equipment per year. 36:16 ConclusionSupport the show

Send us Fan MailImagine 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: [email protected] 📲 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 #RareConnectionPodcastChapter Markers00:00 intro01:57 What inspired Ayush to create Meds Partner?04:21 How big is the drug access problem globally?08:53 What conditions most people reach out about?10:30 What is Named Patient Importation and how does it work?14:39 Problems with doctors not knowing about the program17:11 Risks and Misunderstandings2048 Is a doctor allowed to prescribe a med that isn't available in their country?22:01 Examples of impact on rare disease families24:55 Which countries are the most challenging and which are getting it right?26:26 biggest opportunities for policy change29:25 Raising awareness for this access option32:02 Hopes in terms of collaboration & support34:03 current projects35:17 ConclusionSupport the show

Send us Fan MailWhat’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 illnessHow rare disease and cancer communities can benefit from early palliative supportWhy 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 | 📢 ShareChapter Markers00:00 Welcome00:18 Today's Topic00:35 Introducing Anne Front LFT01:22 What is covered in this episode01:36 Emotional content disclaimer01:58 Anne's Journey04:18 Anne's Cancer Diagnosis05:19 Life During COVID06:59 How Telehealth helps07:42 Palliative Care Vs Hospice11:32 Palliative Care has a full team13:23 Misunderstanding palliative care15:30 Benefits of palliative care for a condition that isn't terminal00:18:00 Back and fourth between Hospice and palliative care19:35 dealing with grief23:37 Emerging Caregiver4:56 Advanced directives00:25:00 Maintaining Safety00:25:45 caregiver support26:32dealing with caregiver burnout & self care27:37 support groups & hobbies29:18 Keeping up with medical appointments30:17 Asking for Help32:56 Anne's Role at the Motion Picture Television Fund 34:38 Anne's TikTok Vlog36:02 TikTok feedback36:56 understanding Palliative care38:38 Why it is important to talk about your feelings39:02 Finding palliative care in your area39:55 conclusionSupport the show

Send us Fan MailIn 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 disorderKeyundra 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 unfoldedThe daily impact of neutropenia and feeding difficultiesWhat TNRC6B gene mutations mean for development and behaviorHow storytelling helps families cope and connectWhy 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.or🌐 TNRC6B info: https://rarediseases.info.nih.go👍 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 ResourcesIf you or someone you know is struggling, the 988 Suicide & Crisis Lifeline is here for you.📞 Call or Text 988 | 💻 Chat at Chapter markers00:00 IntroSupport the show

Send us Fan MailIn 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 IIHThe fight to get off-label treatments covered by insuranceHow art and advocacy helped Stephanie regain purposeWays to get involved in the Rare Artist Program and Rare Disease Scholarship🔗 Links & Resources:EveryLife Foundation: https://everylifefoundation.orgRare Artist Program: https://rareartist.orgRare Disease Scholarship: https://everylifefoundation.org/rare-scholarshipMore on GLP-1 drugs and IIH: https://pmc.ncbi.nlm.nih.gov/articles/PMC10151178/💬 Join the Conversation:Leave a comment on YouTubeOr send Joanna a text using the link in the show notes!📱 Follow Rare Connection:Facebook: https://www.facebook.com/profile.php?id=100095564621062X (formerly Twitter): https://x.com/Rare_ConnectionLinkedIn: 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 988Or text HELLO to 741741 to reach the Crisis Text LineChapter Markers00:00 Intro00:44 Medical disclaimer00:56 Introducing Stephanie01:52 diagnosis story02:33 Right eye goes lazy02:58 Doctor orders MRI03:10 Stephanie passes out03:35 Spinal Tap05:08 Diamox prescribed05:46 Learning to adaptSupport the show

Send us Fan MailIn 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/Chapter Markers00:00 Intro03:17  Early signs05:32 Paxton's diagnosis story08:30 What to expect12:01 Paxton's biggest challenges15:06  Similarities & differences in CLCN6 gene18:59 Inspiration for Cure CLCN626:17 How is Horae Chan Medical School helping rare disease families28:50 How you can help?34:17 What it would mean for Paul & his family to reach their goal39:35 Speech therapy40:10 Financial timeline41:34 Advice for others44:26 Biggest hopes for Paxton and other CLCN6 patients48:33 Special diet?51:24 ConclusionSupport the show

Send us Fan MailIn 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 diagnosisHow art and writing became part of her healingThe mission behind UniquelySarc and her bookWhy peer support groups are essentialHow creative outlets can help rare disease patients find their voice💬 Stay Connected:Subscribe to Rare Connection wherever you listen to podcastsFollow Rare Connection on Facebook, X, and LinkedInText me: Reach out directly using the link in the show notesSubscribe 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 LifelineText “HELLO” to 741741 to reach the Crisis Text LineYou are not alone. Help is always available.Chapter MarkersOO:00 Intro02:14 Regina's diagnosis story04:28 Hospital finds mass on lungs05:37 Nonhodgkins Lymphoma misdiagnosis 08:04 Regina never looked up either Nonhodgkin's Lymphoma or Sarcoidosis0936 Early signs10:45 It took 4 years before Regina was diagnosed with Sarcoidosis11:05 Regina lost 50 LBS11:33 Regina is put on Steroids12{18 The most surprising thing about living with Sarcoidosis13:03 Changes over time.14:06 Uniquely Sarc inspiration15:51 Jewlery as a form of awareness19:25 Regina's first commissioned order20:26 Regina's Book "T0 Hell With Sarcoidosis and ohter conditions"23:41 Wtiting class25:42 Role of expression in processing illness27:52 The Journey Of The Purple Snowflake31:22 Advice for those who don't see themselves as creative35:18 Sarcoidosis Support Group38:26 New Drug trial39:17 common struggles41:02 compassion Patient progran44:13 How Friends and Family can support people with sarcoidosis46:26 advice to knewly diagnosed47:58 conclusionSupport the show

Send us Fan MailIn 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 00:00 intro01:52 Glut 1 explained12:13 early signs13:36 care comparison around the world14:46 Health care and education subsidies in New Zealand15:51 Medical Keto diet17:38 Medical foods and  Medical formula20:34 Consequences if an untrained nanny22:02 Diabetes vs Glut 130:49 Challenges and misconceptions34:18 Serena's work with new parents at Starship Hospital46:05 Keto yogurt recipe49:27 Hopes for Education system in New Zealand54:42 Global Disability Summit58:38 Good/ bad days for disabilities01:02:39 self care01:04:13 How Georgia helps01:05:56 Community01:11:36 Food based treatment vs medications01:13:27 Lessons from Georgia01:14:43 Advice for new parents01:15:17 Listener support01:15:55 ConclusionSupport the show

Send us Fan MailIn 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 needsTami’s insights as a teacher working with children ages 6 weeks to 5 years oldFeeding and nutrition struggles, sensory issues, and strategies that helpThe power of advocacy and community supportTami’s involvement with Wichita’s Littlest Heroes, Meaningful Life Foundation, and Challenge GamesWhether you're a parent, caregiver, educator, or rare disease advocate, this episode offers insight, encouragement, and practical wisdom.🔗 Links & ResourcesWichita’s Littlest Heroes: https://www.wichitaslittlestheroes.comMeaningful Life Foundation: https://www.meaningfullifefoundation.comChallenge Games: https://www.challengegames.orgJoin 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 MerchCheck out the t-shirt I designed to raise awareness for invisible disabilities and rare diseases — available for worldwide shipping: [Bonfire merch link]📱 Follow & SubscribeYouTube: Rare ChefPodcast: [Rare Connection]Facebook, X, LinkedIn: @RareConnection🧠 Mental Health SupportIf you or someone you know is struggling, call or text 988 for the Suicide & Crisis Lifeline — available 24/7 in the U.S.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 needsTami’s insights as a teacher working with children ages 6 weeks to 5 years oldFeeding and nutrition struggles, sensory issues, and strategies that helpThe power of advocacy and community supportTami’s involvement with Wichita’s Littlest Heroes, Meaningful Life Foundation, and Challenge GamesWhether you're a parent, caregiver, educator, or rare disease advocate, this episode offers insight, encouragement, and practical wisdom.🔗 Links & ResourcesWichita’s Littlest Heroes: https://www.wichitaslittlestheroes.comMeaningful Life Foundation: https://www.meaningfullifefoundation.comChallenge Games: https://www.challengegames.orgJoin 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 MerchCheck out the Support the show

Send us Fan Mail🧠 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 anxietyOver 66% experience depressionMany are bullied, misunderstood, or feel completely alone🎧 In this live episode, we’ll explore:How rare diseases impact mental healthWhy so many patients feel dismissed or isolatedWhat it will take to get emotional support to those who need it mostHow 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 #YouAreNotAlonehapter Markers00:00  Intro03:21 Biggest challenges Mental health patients face Both Physically& emotionally06:31 Anxiety and waiting on results09:08 Parent of a nonverbal child doesn;t know if the child is in pain or distress15:17 Medical Gass lighting18:58 Balancing Fear & hope21:10 Damage of negative thoughts over time 24:17 Barriers & progress to affordable mental health29:32 Informational resources on Rare diseases40:51 Suicide Attempt42:48 supporting the effort to make mental health accessable in rare disease47:32 conclusionSupport the show

Send us Fan MailIn 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 diagnosisHow spontaneous tendon ruptures can signal a deeper immune issueWhat it’s like to live with a disease that has no nameWhy orphan disease patients often go years without answersHow Brenda is advocating for herself and others despite uncertaintyWhere to find support and resources for HLA-B27–associated conditionsStay 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 741741.00:00 intro02:53 Diagnosis story05:32 Early Symptoms and medications attempted08:55 Medical Gas Lighting12:10 suit of Armor13:38 PRP & Stem Cell14:05 Anti-Inflammatory diet18:37 Blood Test for HLAB2720:45 Doctors theory  (sinus infection that triggered the gene22:00 The Name doesn't matter25:50 how doctors ruled out other conditions31:32 specialists involved in care33:00 Travel For Care37:29 the little things45:44 Advice for others48:45 conclusion51:28 HLAB27 quizSupport the show

Send us Fan MailIn 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 OnlineYouTube: Rare Chef (subscribe for full episodes & Shorts)TikTok: @joannaball1 (Shorts only; no livestreams)Facebook: Joanna BallLinkedIn: 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 notesComment 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 ResourcesCall or text 988Text HOME to 741741 (Crisis Text Line)Chapter Markers00:00 Intro01:56 Early Signs04:22 Loss of mobiliy08:20 Nicki becomes bedbound09:20 Plasma Pheresis0:11:28 Neuromyolitis Optica VS Multiple Sclerosis0:13:29 Nicki otfrts her medical records0:15:03 Nick has had Asthma her entire Life00:16:17 Dysplasia0:18:57 Debicks Disease ( another name for NMO)0:19:39 Nicki looks for community0:21:22 MS Drugs can make NMO worse0:22:53 You can have NMO and not have the antibody0:23:33 The Sumaira Foundation (TSF) nonprofit for NMO0:24:45 Advocacy0:33:03 Vision on a daily basis0:37:00 Heat triggers symptoms0:39:55 Stztistics NMO0:42:13 genetics0:44:00 Lingering symptoms0:48:00 Treatments that help Nicki stay Relapse free0:50:16 Self care0:59:42 Turning points1:01:46 boumdaries1:04:56 Getting involved with the Simari foundation1:07:06 managing the ambassador program for The Sumaira Foundation1:08:46 comferences1:10:10 Travel for care1:12:30 favoriye projects with the Sumaira Foundation1:15:21 What you should know1:17:46 Srarting treatment for MS filters antibodies out1:18:42 myths and Misconceptions1:19:10 difference between the 2 tests for NMO1:20:10 coping during difficult times1:22:46 acceptance1:24:31 diet1:26:33 Advice for newly diagnosed1:27:42 What NMO has taught Nicki1:29:09 Conclusion1:33:15 nmo quizSupport the show

Send us Fan MailIn 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 childhoodCoping with surgical trauma and living with medical PTSDHer ileostomy and pull-through proceduresLife with Short Bowel Syndrome and daily nutritional challengesThe importance of access to medical foods and legislative change through the MNEAAdvocating through her blog and building community for others with rare GI conditionsFinding diagnosis for a lesser-known condition: abdominal migrainesJenny’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_ConnectionLinkedIn: https://www.linkedin.com/company/rare-connection-incYouTube 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.Chapter Markers00:00 Intro03:16 Diagnpsis story05:03 Family Connection05:50 Early memeories09:31 J pouch10:23 ostomy bag covers11:09 FAP12:38 Long Term Effects of FAP14:21 Genetic Testing15:21 short bowel syndrome17:34 Medical Nutrition18:30 Insurance denials23:23 Importance of equitable access to medical nutrition24:34 Navigating the system25:43 Life's A Polyp blog27:54 Health union formerky We Go Health30:23 What Keeps Jenny Going32:32 If the Medical Nutrution Equity Act were passed34:28 Oklahona Doesn't cover Medical, Foods, or Formula36:00 conclusionSupport the show

Send us Fan MailIn 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 988Text HOME to 741741 to reach a trained crisis counselor.Thank you for being part of Rare Connection!#RareDisease #InvisibleDisability #PatientAdvocacy #LymphocyticColitis #OralLichenPlanus #RareConnection #RareChefChapter Markers0:00:00 Intro0:02:17 Diagnosis story Lymphocytic Colitis0:04:59 Steroid Treatment0:07:52 Oral Lichen Planus Diagnosis0:10:30 Researcher self employed0:13:10 Medical experience0:15:42 Physician Compassion0:18:17 Clinical Research and Healthcare Delivery0:23:21 CORDS Rare Disease Registry0:27:23 Rare-X0:32:40 Rare Disease Naming0:36:27 Disease Patterns0:40:14 what researchers should know0:45:55 Why doctors are discouraged from going outside their specialty0:48:57 Family support0:51:13 Advocacy0:52:33 community0:55:33 Statistical information varies by location1:00:00 Leaky gut syndrome1:04:24 diet, disease, location, & cost1:06:00 Medical Nutrition Equity Act1:10:28 Myths & Misconceptions1:13:42 What gives ben hope1:16:39 Changes Ben would like to see in the next 5 years1:21:25 Our Oddessy1:22:16 Remember The Girls1:23:41 age &rare disease1:25:49 conclusionSupport the show

Send us Fan MailMelissa 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 #disabilityChapter Markers00:00 Intro02:10 Genetic testing reveals Chromosome 4 deletion and Trisomy 603:20 Not compatibke with life04:12 Melissa's son lived to be 12 years old and doing well04:54 cleft Palate 05:18 Teen mom advocate demands full exam07:10 Why Melissa wrote Her book Who Cares?07:42 Home Care10:29 Emergenct careSupport the show

Send us Fan MailGuest: Khartik Uppalapati, Co-founder of RareGen Youth NetworkEpisode 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/2411.06009988 Suicide & Crisis Lifeline: Dial or text 988Crisis Text Line: Text HOME to 741741Connect 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.Chapter Markers00:00 Intro0310 Why Khartok became a reseaercher05:05 Genesis of Rare Gen Youth Network08:14 organoid Intelligence10:07 How AI and Machine learning is revaloutionizing treatment12:18 Antimicrobial Ligens & High performance computing13:56 Potential implicationsNext steps for research15:37 Next steps for Machine learning17:09 Hurdles of conducting research on rare diseases18:16 Common challenges faced by Youth and how they are overcome20:06 Key takeaways concdrning rare disease patients21:21 digital protections23:00 Global collaboration24:39 Equitable accessfor disabled youth & solutions25:44 success in influencing policy27:16 What policy makers should know'28:31 Long term goals & breakthroughs29:21 Advice for other researchers & advocates30:26 MeasuringSupport the show

Send us Fan MailGuest(s): Allison & ElizabethEpisode SummaryIn 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 treatmentLinks & 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 SupportIf 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.Chapter Markers0:00:00 Intro0:01:41 Alison's Diagnosis story0:03:55 Allison is misdiagnosed with Thoracic Outlet Syndrome0:05:01 Elizabeth's diagnosis story0:09:27 Fanily genetics and CCM0:13:44 CCM effect on daily Life (Allison)0:17:15 CCM effects on Daily Life (Elizabeth)0:20:27 Allison's similar symptoms to Elizabeth0:22:36 Elizabeth takes vitamin K0:24:45 Allison's surgery for a hemorrhage right vefore taking the bar exam0:30:15 Thickened diet during surgery to prevent aspiration0:34:42 Alliance To Cure Cavernous Malformation0:35:37 standard of Care for CCM0:36:02 Centers of Excellence for CCM0:36:55 Clinical trial Recosian Pharmeceuticals0:39:47 CCM variants0:46:17 Elizabeth's Care Plan0:51:42 Alison doesn't hace a care plan0:53:59 Allison on future generations0:56:06 Elizabeth' on future generations0:57:32 Allison on diet &CCM1:03:09 Elizabeth on diet & CCM1:12:35 Allison on challenges in proper treatment for CCM1:21:21 Ekizabeth on challlenges in prioer trearmebt fir CCM1:26:37 missconceptions about CCM1:32:57 How you can support the CCM community Allison1:38:54 How you can help Elizabeth1:43:03 tips for overheating1:46:44 How being a twin has influenced the journey with CCM Allison1:49:37 Elizabeth how being a twin influenced the journey with CCM1:51:48 Advice to others on coping with a rare disease Allison1:55:57 Advice to others on coping with a rare disease Elizabeth1:59:39 Hopes for CCM research & treatment Allison2:04:32 Hopes for the future Elizabeth'2:06:40 Ways to get drugs to be affordable2:09:13 conclusionSupport the show

Send us Fan MailRare 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 dataIf 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 Intro0:02:38 Why it is so hard to identify rare disease patuents in traditional healthcare systems0:06:17 How gaps in medical records & diagnosis codes Impact access to treatment0:11:15 barriers patients face when enrolling in clinical trials0:14:46 gaps in medical Records0:18:17 How AI & advanced data Analytics are revolutionizing healthcare0:23:02 How Kythera labs is helping rare disease patients0:26:24 Examples of how AI has sped uo access to treatment0:29:21 How Kythera's platform improves the efficuency of clinical trials0:32:59 How AI can help pharmeceutical companies develop treatments faster0:34:30 Promising trends & breakthroughs in how AI is shaping drug discovery0:41:07 How real wirld data is expanding treatment options for rare disease patients0:45:45 How real World data can benefit patient advocacy groups benefit from data driven insites0:49:23 Jeff's Prediction for how AI will shape the future over the next 5 to 10 years0:50:53 balancing patient data with concerns about privacy consent0:53:51 safe guards to ensure ethical use of data in rare disease research0:55:31 advice to rare disease patients0:58:36 How you can get involved with Kythera Labs1:00:38 How you can stay up ti date on Kythera's work1:02:16 conclusionSupport the show

Send us Fan MailIn 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.Chapter Markers0:00:00 Intro0:02:22 Btain fog0:04:22 Fibromyalgia0:05:58 Car Accident0:07:34 Alcohol induced black outs0:08:16 rehab0:10:17 lao band surgery0:17:14 Sense of tarste changed0:18:18 contacr lenses0:20:18 Dry Eyes and Throat0:21:05 Mimi finds Sjogren's Syndrome on her own 0:22:30 breathing issues0:23.:14 Concierge doctor0:25:09 respiratory failure0:26:34 speech Therapy0:28:50 Blood Marker for Sjogren;s Syndrome found in salivary gland0:29:13 Breast Cancer0:31:09 Implants0:31:36 Red Breast Syndrome0:33:53 Polyps0:36:21 Osteoporpsos0:39:10 Debtal problems0:40:24 Mimi is a caregiver for her husband who has Parkinson's 0:41:06 Therapy0:42:06 Mimi's furst book Raised By Wolves Trapped by Demons0:42:57 Small Nerve Fiber Neuropathy0:45:54 Spigilean Hernias0:48:11 2nd Book The Anatomy of an Allien0:50:15   What doctors should know0:52:05 How respiratory issues unfolded0:54:15 Daily Life0:57:09 oxygen machine0:58:39 Past Trauma1:01:24 suicide1:02:20 Medical gas lighting1:07:31 inspiration for books1:09:42 Advice for other patients struggling to be heard1:12:00 Dietary changes anf Sjogren's Syndrome1:14:19 Conclusion;18:18Support the show

Send us Fan MailIn 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 ShowIf 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 ResourcesIf 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 #PodcastChapter Markers00:00 Intro03:54 diagnosis story07:50 why it takes so long to diagnose08:51 Alpha 1 explained12:31 How a bad lund day affect Mr. Ohh's daily life13:36 Mr. Ohh Sideways View14:19 Weekly Infusions20:37 Things Mr. Ohh used to take for granted that he is extra caregul about now21:45 Misconceptions about Alpha 124:39 Why humor is so important26:10 a time when laughter helped Mr. Ohh through a tough time28:06 How Mr.Ohh handles it when people don't understand his humor29:44 MR.ohh's diet31:38 cooking hobby32:55 Guidelines for managing lung inflamation33:39 Lifestyle changes besides diet35:36 A Typical day of eating38:05 chsnging diet because of medication side effects39:49 hydration41:18 What medical professionals should know43:09 What you should know45:10 How you can supprt the Alpja 1 community47:46 conclusionSupport the show

Send us Fan MailHereditary 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 #HealthAdvocacyHereditary Hemochromatosis (HH) is a genetic condition that causes the body to absorb to much iron leading to serious health complications if left untreated.  Many people go undiagnosed for years mistaking other conditions for other conditions.  In this episode of Rare Connection, I sit down with Michael J. Talon an author, traveler and rare disease advocateto discuss his personal journey with Hemochromatosis.  Michael's battle with Iron Overload nearly cost him everything, bit it also gave him a powerful story to tell.  His memoir, "Incompatible with Life:" explains his experiences wtth the disease and his incredible life adventures from teaching in Brooklyn to bartending in Guatemala.  Read the introduction of Michael's unpublished book here:  michaeljtalon.com/bookIf you found this episode insightful please subscribe to my YouTube channel Rare chef, and my podcast Rare Connection wherever you are listing or watching.  Please also like and comment below.  I would love to hear your thoughts.Check out Mike's website:  https://www.michaeljtallon.com/Chapter Markers0:000:00 Intro0:02:00 Hereditary Hemochromotosis can be picked up with a family histiry screening0:03::29 early signs0:06:22 Misdiagnosis with diabetes0:07:39 Doctor suspects cirrhosis0:10:11 New Radiologist finds cirhosis0:11:34 Mike goes home to New York0:12:33 Mike's father buys him health insurance0:13:09 Fibroscan0:15:08 Liver Transplant recommended0:15:21 Mike is ordered to stop drinking0:16:21 Portal Vein Hypertension0:17:05 Mike is put on beta blockers0:17:40 Heart failure0:18:22 Mike passes out0:20:16 step down unit0:21:14 High Ferritin level0:23:23 Mike is transfered to the cardiac ward0:24:08 Mike is diagnosed with Hereditary Hemochromotosis at 480:24:36 Hereditary Hemochromotosis is commonly diagnosed at autopsy0:28:49 Hereditary Hemochromotosis is most common in a Keltic population0:30:20 Challenges and misconceptions0:32:28 What symptoms should you look for0:34:38 How HH changed Mike's daily life0:37:24 suicide attempt0:38:29 turning point0:40:04 Long Term changes0:40:56 Treatment For HH0:44:36 History of HH0:45Support the show

Send us Fan MailJoin 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.  Chapter Markers0:00:00 Intro0:04:10 Diagnosis story0:09:23 MRI Image Pituitary Gland0:11:54 Acromegaly explained0:14:31 Missed Signs0:18:45 How the Acromegaly diagnosis changed Risa's outlook on life0:20:51 treatments and navigating the healthcare system0:23:53 How the brain tumor affected Risa's daily life Physically and emotionally:25:42 Why Risa thinks Acromegaly might be more comon than we think0:28:26 What more doctors should know about diagnosing and treating Acromegaly0:30:36 Average life expectancy0:31:26 Advice to undiagnosed0:33:14  Risa;s biggest challenges in advocating for herself0:36:31 How Risa's diagnosis changed her approach to life0:39:58 Favorite travel spot0:40:59 Misconceptions0:46:47 balancing act0:49:07 inspiration for Risa's book The Road Unpaved: 0:52:14 Whar Risa hope's people take away from her story0:54:21 What's Next0:56:40 Advice for other facing life altering diagnoses1:00:23 Risa's advice to herself1:011;44 conclusionSupport the show

Send us Fan MailIn 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=8-1Chapter Markers00:00 Intro02:16 diagnisis story04:45 Most challenging moments early on06:15 How a high blood level affects Danielle's daughter07:13 How low blood levels affect Danielle's daughter07:50 Perfect Level08:26 Protein tolerance09:21 PKU Explained10:27 Improvements Danielle Would Like ti see in the newborn screening12:33 Tips for managing the low protein diet15:12 Medical food coverage16:48 products and resources that are helpful19:31 Projects & initiatives20:37 Inspiration for Rosie The Racoon Has PKU21:49 Main Message & take away22:47 Process of writting and challenges24:15 Book intentions & reader responses29:00 Book statistics29:31 How the book contributes to PKU Awareness31:26 future books32:10 How parenting a child with PKU has changed Danielle's prespective33:15 Advice for other parents35:19 Hopes for PKU advancement & treatment37:41 Danielle's future as both an advocate & an Author38:26 conclusionSupport the show

Send us Fan MailIn 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 AllianceLearn 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.orgConnect 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 [email protected] 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 [email protected]  anything you can give will help.  Click the link below to help:https://www.buzzsprout.com/2204433/supportFacebook: https://www.facebook.com/groups/3802022513417876Twitter: 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.Chapter Markers0:00:00 Intro0:01:28 Superficial Siderosis explained0:04:56 How Superficial Siderosis differs from MS0:07:28 How Rori Communicates with Gary0:07:55 diagnosis0:12:41 Chelation Therapy (off label Treatment for Superficial Siderosis)0:16:37 How SuperficialSupport the show

Send us Fan MailNot 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 [email protected].  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_settingsThank youChapter Markers00:00 Intro03:00 Phil Finds a lump05:14 Phil didn't instantly link his lump to breast cancer05:52 Phil went directly to the doctor09:54 Diagnosis process12:56 How Phil's healthcare team handled the kump15:13 Treatment18:35 Emotional aspect20:32 What Phil wished he would have known or done differently23:40 support groups25:32 telling the family27:39 advice Phil would have given himself & others29:01 peer support32:00 conclusionSupport the show

Send us Fan MailErika 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 [email protected] Markers0:00:00 intro0:03:34 diagnosis story0:17:11 Age at diagnosis0:17:49 communication0:19:18 Erika communicates with Alexa on camera0:20:51 Lense dislocation0:21:16 Daily life0:23:42 How Erika feels about newborn screening0:31:10 Erika opts out of lensectomy0:32:24 Advice for newly diagnosed0:35:45 Medical foods0:37:21 How Erika deals with the cost of medical foods0:41:58 Challenges at the beginning0:44:51 How Erika Ensures that Alexa gets the best possible care0:51:58 Clinical trial0:55:53 good moments with Alexa0:57:18 hopes for the future0:59:57 conclusionSupport the show

Send us Fan MailDenise'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.  Chapterr Markers00:00 Intro02:39 How Denise's family processed the abnormal Newborn Screening results04:43 Hardest part07:10 Denise was told to mix milk in with Riley's formula and she is on a low protein diet.09:59 how Denise dealt with the specialize formual and vitamins11:41 managing diet as riley grows15:14 Managing Formula & diet with activities18:34 Favorite foods24:54 school parties and food items26:56 504 plan27:36 clinical trial30:18 How Denise's support network helps her navigate life with HCI34:19 School communication37:29 Hopes for Riley's future in terms of health & personal goals40:05 most rewarding part42:51 changes in public understanding43:57 What Deise does for Homocystinuria Awareness Month45:09 Most mistunderstood part of Classical HCU48:36 What does denise mean by"Living like Rockstars"50:06 Advice to others50:55 Conclusioniet formula, how she works with the schools and moreSupport the show

Send us Fan MailThis 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.Chapter Markers0:00 Intro04:11 Diagnosis story10:20 Early signs that led to testimg13:39 Getting low pro foods & formula in Uruguay17:47 Callenges faced in maintaining a consistent treatment plan19:39 Daily life as far as school, extra caricular activities and social interactions23:19 Low protein diet26:31 Educating medical proffessionals29:05 Improvements Anna would like to see in Uruguay30:39 Newborn screening in Uruguay32:03 How connecting with HCU Network America affected Juana33:39 Insights into Juana's perspective on living with HCU38:13 Life expectancy and undiagnosed39:00 Hopes for the future40:20 Advice to other HCU parents & patients41:44 HCU Awareness activities44:18 Resources45:23 ConclusionSupport the show

Send us Fan MailBriana'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.  Chapter Markers0:00:00 intro0:03:25 early signs0:09:27 Junior has MSUD, but doesn't carry the gene0:11:09 Chronic intestinal pseudo obstruction0:16:50 daily life & the biggest challenges jn Managing Juniors conditions0:22:10 Managing nutrtional needs0:25:41 Navigating the healthcare sysrem0:32:55 How a liver transplant could potenntially change Junior's condition0:38:38 Support needed during & after transplant surgeries0:45:00 Benefits & risks of transplants0:49:09 Importance of MSUD to be on the Newborn Screening panel0:54:53 Medical Nutrtion Equity Act Impact on Briana's families life0:57:08 Getting involved in advocating for the MNEA1:02:54 self care1:06:28 Resources &support Networks1:09:52Advice for new parents1:11:54 ConclusionSupport the show

Send us Fan MailThis 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. Chapter Markers0:00:00 Intro0:03:39 Early symptoms0:07:21 Air Force picture0:10:26 Balancing Demands of Military Life0:12:06 Challenges of an accurate diagnosis0:16:07 Managing  life as a flight engineer0:18:20 coping on daily life0:23:25 support from community0:25:42 service dog0:33:10 Transfusion before 2nd transplant0:37:23 How Damien Managed his health after the loss of his father0:41:05 support system0:43:26 Day to Day life0:48:34 military survival school0:52:57 Volunteer work0:55:49 treatment process0:59:10 clinical trials1:01:00 advice to others1:07:30 what could Damien have done differently1:09:13 Biggest takeaway from Damien's journey1:11:08 Damien's message to future donors & how the gift has changed his life1:15:52 Benefit of sharing your story1:19:00 conclusionSupport the show

Send us Fan MailDespite Congenital Muscular Dystrophy not being tested for at birth, some companies are working on getting it passed.  This is Newborn Screening Awareness Month.  Since the bill hasn't been reauthorized in all states lack of funding could be harming those who are born with new conditions that may or may not be able to be tested depending on the state.  It is important to raise awareness for this important cause.  That is why I have made September about Newborn Screening   Among rare diseases it can be hard to find people with conditions on the newborn screening.    Many still know of newborn screening as the PKU test since it is the first condition that it tested for.  Some also know it as the heal prick.  Newborn Screening now tests for over 75 different genetic conditions as well as a hearing test.  Some conditions also that aren't intentionally tested for may also be picked up.  This episode is mostly about newborn screening, but their are other aspects of CMD as well as the foundation Cure CMD.  You can visit the website at curecmd.org.  Do to a choppy recording my part was rerecorded after the interview for the most part and is probably clearer hear than on the original video podcast.  I will work on finding a different location in my home for future broadcasts.Chapter Markers00:00 Intro02:39 The importance of Newborn screening03:42 Congenital Muscular Dystrophy is not screened for at birth04:18 How Newborn screening could better identify 05:20 On average it takes 7 years to get a diagnosis for rare diseases06:32 Kelly's diagnosis story07:11 Early symptoms08:13 Difference between Muscular Dystrophy and Multiple Sclerosis09:15 Care guidelines10:41 Pain with Muscular Dystrophy11:54 Preventing bed sores12:55 Self transfer13:39 Iniatives15:25 Campaigns16:45 Growing community18:02 Advice to newly diagnosed19:30 How life has changed for Kelly since diagnosis20:41 ConclusionSupport the show

Send us Fan MailPatrick James Lynch is a Hemophilia patient, and advocate, fim maker and podcaster.  His films include Bomardier Blood, Deliver Us and My Beautiful Stutter as well as many others,  He has been won several awards including the Rare impact award from the National Association for Rare Disorders (NORD) the Meritorious service award in and he has also been a keynote speaker for the World Federation of Hemophilia WFH.  Patrick dedicates his work to his brother who sadly passed away in 2007 at the age of 89.  His brother was also a hemophilia patient and a retired news anchor from Pittsburgh, PA.  Patrick now lives in California where he continues to film and advocate for rare conditions through story telling.  Please subscribe to my YouTube channel Rare Chef so that you don't miss an episode  You can also subscribe on whatever platform you are listening to this on.  Feel free to use the link in the show notes to text me.  I would love to hear from you.  You can also visit my website rareconnection.org to join my email list, and connect with other rare disease patients, signup for my podcast, and stay updated as rare connection becomes a nonprofit.  Finally you can join our Facebook group and visit the Facebook Page.Chapter Markers00:00 Intro04:01 Hemophilia explained05:43 Patrick's brother had hemophilia also06:04 Genetics06:53 Path to Film Making & Advocacy13:51 How Adam's memory has shaped Patrick's approach to Advocacy and story Telling15:32 Transgorming challenges into advocay19:22 Inspiration for believe Limited 21:11 Coming up with a name for the company23:06 How awards have influenced Patrick's work25:20 Key messages from speaking engagements28:41 Potential for advocacy extending to other diseases31:09 Upcoming projects35:05 Advice to Others38:18 Long term Goals40:10 conclusionSupport the show

Send us Fan MailThis week Rare Connection goes back to it's roots with a condition covered by the Medical Nutrition Equity Act if it were to pass.  The MNEA would mandate that health insurance cover medically prescribed food, formula and vitamins for those who need them.  At the beginning of last season in February Nutrition Equity became Rare Conne6892ction to cover more conditions and allow me to go outside the country.  House bill 6892 was reintroduced into congress by representative McGovern. Long Chain Hydroxy Coenzyme A Dehydrogenase Deficiency (LCHAD) is an Inborn Error in Metabolism.  Join me as I talk to Alexandra about how she was diagnosed, her podcast "Positively Walking with Mito<" Advocacy, Advice and hopes for the future as well as the Medical Nutrition Equity Act and how it would help those with LCHAD.  We are currently seeking a Senate Republican to champion the senate side.  If you are in the US you can help us to get this bill passed for countless individuals.  12 episodes of Nutrition Equity were filmed before it became Rare Connection.  We also now have a website.  rareconnection.org If you are interested you can join our email list, read about our board members that currently have bios up, and more.  Some of the episodes and shorts are also on their.  I am in the process of turning Rare Connection into a nonprofit, but I currently don't have all of the paperwork filed with the state and feds to do so.  Your support is greatly appreciated, please click on the support the show link to support us.  The podcast is monetized, I am also a caregiver and a rare disease advocate.  I have an inborn error in Metabolism, a genetic condition called Homocystinuria which is related to PKU by diet, and (we follow a low protein diet because of a problem with a different essential amino acid)  It looks more like Marfan's Syndrome and is commonly mistaken for it though.  You can also text me through the link in the show notes.  If you have a business I could also use sponsors.  Thank you for your continued support.Chapter Markers00:00 Intro03:04 LCHAD explained03:37 Alexandra's symptoms04:57 Medical formula05:45 Diagnosis process08:06 Resilience & adaptation10:00 Inspiration for Positively Walking with Mito11:58 Balancing raising awareness with managing health13:33 Importance of the Medical Nutrition Equity Act15:59 How you can support the MNEA17:40 Daily challenges20:09 Tracking fat & calories21:40 Measuring by scale24:28 Role of medical foods & formula26:10 Spoon theory28:18 Going over on fat29:28 Advice for newly diagnosed31:32 Hopes for the future of rare disease treatment34:00 Newborn Screening Bootcamp34:50 Future advocacy goals35:44 ConclusionSupport the show

Send us Fan MailJoin me as I talk with Rebekah about her child Mason's diagnosis with HypoHidrotic Ectodermal Dysplasia.  Mason is now  years old and he is already advocating for his health with his mother's help.  HypoHidrotic Ectodermal Dysplasia is a rare genetic condition characterized by the bodies inability to sweat, sparse hare, tooth loss and ear, nose and throat issues.  Mason is missing all except 2 of his natural teeth and so he has to wear dentures to be able to eat and carry on a conversation.  This condition involves a lot of therapy with both speech therapy and therapists that specialize in feeding.  Chapter Markers00:00 intro02:15 diagnosis journey03:28 How Rebecca found out she was a carrier05:10 Hypohydrotic Ectodermal Dysplasia explained06:29 Initial thoughts07:46 Resources & support networks09:03 Tools to prevent overheating11:10 Dental care13:12 Soft food diet13:50 feeding tubes14:43 Ear, Nose & throat &respiratory issues16:47 Support from the medical community17:56 support system18:59 Advice to new HED Patients19:37 Misconceptions20:58 Advocating for Masson22:26 Hopes for the future23:37 How being a parent of a child witha rare disease has changed Rebecca25:28 Most rewarding part26:20 Advice to younger Rebecca27:05 conclusionSupport the show

Send us Fan MailNicknamed Kinky Hair Syndrome Menkes Syndrome is tested for in cases where the child isn't getting enough copper which can cause hair loss.  It is often the first sign.  It isn't on the newborn screening currently, but their are clinical trials for it.  Go to clinicaltrials.gov for more information if your child has it.  Babies won't show signs often until it is to late.  Daniel has a background in video editing and animation and has worked on shows like The Closer and Curb Your Enthusiasm.  Today he works at Global Genes and uses his skills to help rare disease patients tell their story through film. I am currently trying to turn Rare Connection into a nonprofit.  I am looking for volunteer board members to help with that.  It is a volunteer position, so you won't be paid, but it is a good way to gain experience and help the rare disease community.  Please contact me through the link in the fan mail link in the show notes if interested.  Also please subscribe wherever you are seeing this   Thanks for listening.Chapter Markers0:00:00 Intro0:03:52 Diagnosis Journey0:06:51 Challenges Daniel faced0:09:46 Documentary about Lucas0:13:47 Producing the documentary0:17:01 Impact of the docimentary on the rare disease community & beyond0:18:51 Founding of The Disorder channel0:22:17 Motivation for the disorder channel & content found there0:23:53 Selection process0:25:09 Director of Community Engagement Role0:29:08 Most rewarding moments in Daniel's career0:31:57 How films can raise awareness & drive change0:34:33 Advice to those wanting to share their stories0:36:16 Choosing music that doesn't disrupt0:38:46 Getting involved in Global Genes & supporting the mission0:51:12 How Daniel's perspective on life has changed since his diagnosi0:52:56 How a sibling reacts when his brother is getting all the attention0:55:10 Advice for rare disease patients0:58:31 ConclusionSupport the show

Send us Fan MailIn this episode I talk with Melissa from the Pura Syndrome Foundation about her child Taylor now 27 who was diagnosed with Pura Syndrome 2 years after it was discovered in 2014.  Listen along and learn about this condition and Melkisa's roles with the Pura Syndromde Foundation over the years from working on the grants committee, to fundraising to being a US ambassador for Pura Syndrome.  YOu will also learn about her family life and caring for Taylor.Chapter Markers00:00 Intro02:29 PURA Syndrome diagnosis07:30 Special diet08:45 Biggest challenges10:25 Typical day14:10 Balancing caregiving responsibilities with other aspects of life16:47 How Taylor's diagnosis has impacted Melissa's family18:43 Inspiration for Melissa to become involved in the PURA Syndrome Foundation20:47 Melissa's roles on committees22:37 Resources & Support Systems25:08 How Melissa helps PURA families find resources they need26:21 Overcoming challenges as a caregiver27:48 Triumphs with Taylor29:02 Hopes for Taylor's future30:45 Advice to new parents33:12 Advocating & finding support34:28 Get involved37:19 ConclusionSupport the show

Send us Fan MailIn this episode I talk with Grace a parent of 2 children.  Her youngest daughter Carson,  who just turned 4 has Severe MTHFR.  MTHFR is the rarest form of Homocystinuria.  With Severe MTHFR they do NOT follow a low protein diet like classical HCU.   In addition to being a parent with this rare condition, Grace also is a director on the board with HCU Network America.   Follow along as Grace talks about her daughter's struggles with MTHFR.  If you like these episodes consider tuning into my YouTube channel Rare Chef where I have cooking videos as well as the live version of this podcast.  Subscribers in both places are always welcome.   Follow the link below to donate or subscribe to my podcast.   https://www.buzzsprout.com/2204433/supportIn addition I am trying to turn Rare Connection into a non-profit.  I need board members before I can apply for a 501c3.  If you have an interest in making a difference in the life of rare disease patients you can contact me through the link in the show notes, or by e-mailing me at [email protected].  Volunteer work is a great thing to add to your resume if you have been out of work for a while.  Chapter Markers00:00 Intro02:08 Severe MTHFR explained03:06 Diagnosis journey10:25 Why Grace became a director on the board of HCU Network America11:47 How Grace's backgrounNetwork America12:57 How you can donate to HCU Network America13:46 Biggest challenges as a child with Severe MTHFR15:56 Balancing roles as a Parent, Teacher & advocate17:38 Transformative moments20:37 Resources22:19 How medical professionals can better suppport families with Severe MTHFR24:41 Misconceptions about Severe MTHFR29:17 How you can tell the difference between Severe MTHFR and thecommon variants30:52 How Grace Educates her students about Severe MTHFR33:31 Role of education in improving the lives of rare disease patients36:30 How schools & communities can bettersupport Severe MTHFR patients38:53 Hopes for the future in terms of treatment 7 Support47:41 evolbo/how Grace sees the role of Advocacy evolving in the rare disease community48:30 Advice to new parents50:57 How you can support HCU Network America & the work Grace is doing52:55 Final thoughts54:08 conclusionSupport the show