Rare Connection

Joanna
  • 5.0 (2)
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  • UPDATED BIWEEKLY

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

  1. 3D AGO

    Schizencephaly with Glen from California

    Send a text What 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 resilience Connect with Rare Connection Follow 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 Resources If 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

    34 min

  2. FEB 28

    Atypical Hemolytic Uremic Syndrome With Taylor From California

    Send a text This 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 life Taylor’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 Notes This episode includes discussion of postpartum depression, ICU trauma, and medical emergencies involving childbirth. Please take care while listening. Connect With Rare Connection Video 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  • LinkedIn Support the show and help amplify rare disease stories by sharing this episode. Suicide Prevention Resources If 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

    53 min

  3. FEB 19

    Spinal Muscular Atrophy With Candis From California

    Send a text This 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 information Support the show

    2h 6m

  4. FEB 10

    Accelerated Global Clinical Trial With Julio Martinez- Clark

    Send a text In 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 treatment Whether 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 Kitchen If you or soneone you know is struggling pkdzsd call or text 988 or Text home to 741741 .  Help is available 24/7 Support the show

    55 min

  5. 12/20/2025

    New Drug for RDEB Skin Condition With Professor Mark Lowdell From The UK

    Send a text Iss 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 +1 We 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/13943332754051 Support the show

    38 min

  6. 12/03/2025

    Dyscalculia With Michelle From Pensylvania

    Send a text In 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 disabilities This 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 YouTube If 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 & Advocacy Description: 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 Support the show

    34 min

  7. 10/11/2025

    Partial Trisomy 8Q Duplication Syndrome Wuth Saida From California

    Send a text In 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 Wattpad Explore 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=wondergirlsaida The 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=iosSupport the show

    31 min

  8. 09/29/2025

    Okur Chung Neuro Developmental Syndrome (OCNDS) With Jillian from Massachusetts

    Send a text In 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

    30 min
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Ratings & Reviews

5
out of 5
2 Ratings

About

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

Information

  • Creator
    Joanna
  • Years Active
    2023 - 2026
  • Episodes
    70
  • Rating
    Explicit
  • Copyright
    © 2026 Rare Connection
  • Show Website
    Rare Connection