Rare Connection

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

  1. 6D AGO

    Adrenoleukodystrophy With Elisa From New York

    Send us Fan Mail Elisa'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 Adrenoleukodystrophy Surge to Save Home - Surge to Save Newborns Support the show

    30 min

  2. APR 8

    26 Year Stomach Cancer Survivor Healing with Food with Chef Chuck

    Send us Fan Mail What 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 Conversation If 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 ⚠️ Disclaimer This 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 Alone If you or someone you know is struggling, support is available. In the U.S., you can call or text 988, the Suicide and Crisis Li Support the show

    1h 51m

  3. MAR 23

    Denovo (Genetic But Not Inhereited) With Jenny From Texas

    Send us Fan Mail What 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

    53 min

  4. MAR 19

    New Drug For Duchenne Muscular Dystrophy With Dr. Steven Quay

    Send us Fan Mail In 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 Show If 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 & Share Follow 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⚠️ Disclaimer This 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

    1h 13m

  5. MAR 12

    Schizencephaly with Glen from California

    Send us Fan Mail 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

  6. FEB 28

    Atypical Hemolytic Uremic Syndrome With Taylor From California

    Send us Fan Mail 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

  7. FEB 19

    Spinal Muscular Atrophy With Candis From California

    Send us Fan Mail 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

  8. FEB 10

    Accelerated Global Clinical Trial With Julio Martinez- Clark

    Send us Fan Mail 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
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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
    74
  • Rating
    Explicit
  • Copyright
    © 2026 Rare Connection
  • Show Website
    Rare Connection

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