Rare Connection

Joanna

Rare Connection is a podcast dedicated to rare diseases, undiagnosed conditions, patient advocacy, medical research, and the people working to improve the lives of those living with rare disorders. Originally launched as Nutrition Equity, the podcast expanded into Rare Connection to reflect its broader mission: sharing the stories, science, and research behind all 10,000+ known rare diseases—not just those related to the Medical Nutrition Equity Act. Each episode features conversations with patients, caregivers, physicians, researchers, nonprofit leaders, advocates, and biotechnology experts. Together, we explore rare diseases, genetic disorders, newborn screening, clinical trials, emerging treatments, healthcare policy, diagnostic journeys, and the challenges of living with conditions that are often misunderstood. In medicine, common conditions are often referred to as "horses," while rare diseases are known as "zebras." Although each rare disease affects relatively few people, more than 300 million people worldwide live with a rare disease. Collectively, rare diseases impact more people than many realize, yet they are frequently underdiagnosed, misdiagnosed, or diagnosed only after years of searching for answers. I host this podcast not only as an advocate, but also as someone living with Homocystinuria (HCU), a rare inherited metabolic disorder. I understand firsthand how isolating a rare diagnosis can be and how important education, research, and community are for patients and families. Whether you are a patient, caregiver, healthcare professional, researcher, policymaker, student, or simply curious about rare diseases, Rare Connection aims to educate, inspire, and connect people through real conversations and expert insights. Video episodes are available on YouTube through Rare_Chef, with audio available on all major podcast platforms. If you have a rare disease, undiagnosed condition, or work in rare disease research, advocacy, or healthcare and would like to be a guest, I'd love to hear from you. Please contact me at joanna.ball41@gmail.com.  Rare Connection is more than a podcast—it's a growing community. Beyond sharing educational interviews, I help connect patients and families with rare disease organizations, Facebook support groups, advocacy groups, clinical trial information, researchers, and others who may be able to provide support or answer questions. Sometimes the most important step is simply helping someone realize they are not alone. 

  1. 3 days ago

    Klinefelter Syndrome (47XXY) with Jason from Pennsylvania

    Send us Fan Mail What happens when you finally receive a diagnosis—but still need a plan for living with it? Joanna Ball welcomes patient advocate Jason LaBarre to Rare Connection for a conversation about Klinefelter syndrome, also known as 47,XXY. Diagnosed at 29, Jason spent childhood and adolescence wondering, “What’s wrong with me?” Jason shares his perspective on finding answers, navigating care, and turning personal experience into advocacy. His message, “A diagnosis is not a care plan,” opens a discussion about individualized support, asking questions, and looking beyond testosterone to understand the whole person. Whether you’re living with XXY, supporting someone who is, or learning about the condition for the first time, this episode invites you to listen to the patient behind the diagnosis. Nonprofits and support resources • AXYS — Association for X and Y Chromosome Variations: Education, advocacy, support groups, and clinical resources for individuals with X and Y chromosome variations and their families. https://genetic.org/ • Klinefelter’s Syndrome Association (UK): Information, community connections, and support for people affected by KS/XXY, their families, and professionals. https://www.ksa-uk.net/ • Living With XXY: Personal stories and educational resources exploring life with Klinefelter syndrome. https://livingwithxxy.org/ Natural history research: GALAXY Registry The GALAXY Registry collects medical information over time to better understand Klinefelter syndrome and other X and Y chromosome variations. Adults and children with a genetically confirmed diagnosis may be eligible. Online enrollment and medical-record participation do not require travel; questionnaires and blood sampling are optional. Study information and enrollment: https://nascarr.rarediseasesnetwork.org/research-study/9101 ClinicalTrials.gov — NCT06373861: https://clinicaltrials.gov/study/NCT06373861 Participation is voluntary. Check with the research team for current eligibility and enrollment details. Subscribe to Rare Connection for more patient stories, advocacy conversations, and rare disease research. Support the show

  2. 4 Nov

    Duchenne Musculuar Dystrophy: The Heart Connection with David Craig from Sarcomatrix Therapeutics

    Send us Fan Mail Duchenne muscular dystrophy affects more than movement—it also affects the heart. In this episode of Rare Connection, Joanna Ball welcomes David Craig, founder and CEO of Sarcomatrix Therapeutics, to explore the heart connection and the work involved in bringing potential rare disease treatments to patients. David shares his family’s connection to rare genetic muscle disease and discusses S-969, an investigational oral drug candidate designed to support skeletal and cardiac muscle through an approach that does not depend on a person’s specific Duchenne mutation. We discuss what researchers can learn from animal studies, why encouraging findings do not guarantee results in people, and what must happen before human trials can begin. At the time of recording, S-969 remains in preclinical development; its safety and effectiveness in people have not been established. David also introduces his book, The New Rules of Rare Disease: How Founders, Families, Advocates, and Scientists Can Change Lives. Our conversation explores how funding, patient advocacy, and partnerships can help move promising discoveries toward clinical research. David says book proceeds support muscular dystrophy organizations, including Destroy Duchenne and Decker’s Blueprint. Learn more: Sarcomatrix Therapeutics: https://www.sarcomatrix.com/ The New Rules of Rare Disease: https://www.amazon.com/dp/B0HNF3QJNW Ambassador message: Joanna is an ambassador for Alex and Andy, a stroke apparel brand. Use code JOANNABALL for 10% off. Coming next: Jason joins Rare Connection to discuss Klinefelter syndrome, also known as 47,XXY. Subscribe and share to help rare voices reach more people. Support the show

  3. 26 Oct

    Sanfilippo Syndrome with Chelsea from Michigan

    Send us Fan Mail When you hear “dementia,” you probably think of Alzheimer’s disease and older adults. But children can develop dementia too. In this episode of Rare Connection, Joanna Ball welcomes Chelsea Walline to share the story of her daughter, Elle, who was diagnosed with Sanfilippo syndrome Type C at age seven. Following diagnoses of sensory processing disorder and autism, genetic testing brought an answer the family never expected. Chelsea shares who Elle is, their journey to diagnosis, and how their family became advocates working to raise awareness and fund research toward a treatment. We explore childhood dementia, the importance of genetic testing, daily life with a rare disease, and the role families play in moving research forward. Meet Elle, learn about Sanfilippo, and discover how you can support families working toward a different future. Follow and support Team Elle: • Website and fundraiser: https://saveelle.com/ • Instagram: https://www.instagram.com/cure_elle/ • Facebook: https://www.facebook.com/p/Team-Elle-61579542872436/ • TikTok: https://www.tiktok.com/@team_elle Learn more: • Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/ • Team Sanfilippo: https://teamsanfilippo.org/ • Childhood Dementia Initiative: https://www.childhooddementia.org/ Share this episode to help more people recognize that dementia can affect children. Follow Rare Connection for conversations with rare disease patients, families, advocates, and researchers. Support the show

  4. 13 Oct

    Homocystinuria & Neurofibromatosis 1 With joseph From The UK

    Send us Fan Mail What happens when signs of a second rare condition are dismissed because a child already has one diagnosis? For HCU Awareness Month, Joanna Ball welcomes Joseph, a father from the United Kingdom, to share the story of his 14-year-old son, Mathew. The youngest of five children, Mathew is nonverbal and lives with Classical Homocystinuria (HCU) and neurofibromatosis type 1 (NF1). Concerns about missed developmental milestones eventually led to a metabolic specialist and Mathew’s HCU diagnosis at age seven. Joseph describes problems with earlier lab testing that delayed answers. Despite Mathew showing signs of NF1, Joseph recalls being told the two conditions were not expected to coexist. Mathew received his NF1 diagnosis at age nine. Joseph’s wife and one of Mathew’s siblings also have NF1. Mathew’s siblings have not been tested for HCU. The conversation explores getting parental concerns heard, supporting a nonverbal child, eye concerns—including loose lenses and reluctance to wear glasses—and travelling with additional care needs. Through Rare Connection, Joanna frequently hears from people living with multiple diagnoses. Mathew’s story reinforces why new symptoms deserve investigation, even when a diagnosis is already established. This conversation highlights how gaps in rare disease education, outdated information, and limited research funding can leave families searching for answers. Patients and caregivers often develop detailed knowledge of their conditions that deserves to be heard and considered alongside clinical expertise. Through Rare Connection, Joanna brings these experiences into public view to encourage learning, support research, and help families get their concerns taken seriously. SUPPORT, INFORMATION AND FUNDRAISING Alex & Any ambassador link https://alexandandy.com/?ref=JOANNABALL HCU Network America: https://hcunetworkamerica.org/ HCI Network America is a 501c3 nonprofit (EIN) is 81-3646006. Donations go towards research and education and are tax deductatble Thanks in advance to anyone who donates.  You can donate to any of the Homocystinurias by following the link:  Research Funding Thermometers - HCU Network America Support HCU Network America: https://hcunetworkamerica.org/how-to-donate/ Nerve Tumours UK—information and support: https://nervetumours.org.uk/ Support Nerve Tumours UK: https://nervetumours.org.uk/get-involved/donate NHS information about NF1: https://www.nhs.uk/conditions/neurofibromatosis-type-1/ CLINICAL RESEARCH Explore HCU studies: https://clinicaltrials.gov/search?cond=Homocystinuria Explore NF1 studies: https://clinicaltrials.gov/search?cond=Neurofibromatosis%20Type%201 Check each study’s current recruitment status, locations and eligibility requirements, and discuss participation with your care team. Support the show

  5. 25 Sept

    Rare Patient Voice with Wes Michael President & Founder

    Send us Fan Mail In this episode, Joanna speaks with Wes Michael, President and Founder of Rare Patient Voice, a market‑research industry veteran with over 40 years of experience. Wes shares how his unique background — from an MBA at the University of Chicago Booth School of Business to a BA in English from the University of Pennsylvania — shaped his mission to build a patient‑driven research panel that puts privacy, trust, accessibility, and respect at the center. Wes explains how Rare Patient Voice began by elevating rare‑disease communities and has now expanded to include people living with common conditions, creating one of the most trusted patient‑insight networks worldwide. He breaks down why finding the right patients matters, how patient voices influence research and product development, and why paying patients for their expertise and time is essential for ethical, high‑quality insights. This conversation dives into: How Rare Patient Voice finds and connects patients and caregivers with meaningful research opportunitiesWhy a patient’s voice matters more than ever in shaping future treatments and technologiesThe importance of privacy, data protection, and trust in patient‑research partnershipsHow to protect yourself when participating in studiesWhy accessibility and fair compensation are non‑negotiableWhat Wes sees coming next for patient engagement, global expansion, and the future of patient‑driven researchWes also shares personal stories — from running cross country in Edinburgh to walking Ace and Stanley, his beloved dogs — and reflects on the joy of hearing from patients who feel empowered after participating in a study.  #RareConnection #RarePatientVoice #PatientAdvocacy #PatientExperience #PatientInsights #MarketResearch #HealthcareResearch #PatientVoice #PrivacyInHealthcare #DataProtection #AccessibilityMatters #PayPatientsFairly #CaregiverVoices #RareDiseaseCommunity #CommonConditions #MedicalResearch #PatientStories #HealthEquity #PatientCenteredCare #ResearchEthics #HealthcareInnovation #PatientPanel #GlobalHealthResearch #PodcastEpisode  Support the show

  6. 12 Aug

    Wiedemann-Steiner Syndrome With Melissa From New Jersey

    Send us Fan Mail What happens after a family finally gets a name for a rare condition? In this episode of Rare Connection, Joanna talks with rare disease advocate, author, and Rare Genes Movement co-founder Melissa White Boyer about her son Parker's journey with Wiedemann-Steiner syndrome (WSS), a rare genetic disorder associated with changes in the KMT2A gene. Melissa shares the signs that eventually led to Parker's diagnosis, what it was like to receive an answer for a condition few people have heard of, and the challenges that continued after the diagnostic odyssey was over. We also explore why rare genetic disorders don't always look like their textbook descriptions, how WSS can overlap with other genetic syndromes, and what happens when families find themselves educating healthcare professionals about their child's condition. Melissa discusses the gaps she encountered after Parker's diagnosis and how those experiences helped lead to Rare Genes Movement, which supports families across rare diagnoses. We also talk about inclusion and Melissa's children's book, I Am Rare, including one particularly powerful question from the story: Does the world have room for me? Melissa explains what she wanted that message to mean for children with rare conditions—and for the people and communities around them. In this episode: Parker's road to a Wiedemann-Steiner syndrome diagnosisWSS and the KMT2A geneWhy someone with WSS may not have every "classic" featureConditions that can resemble WSSNavigating healthcare after a rare diagnosisWhen parents know more about a rare condition than their healthcare providersThe gaps that inspired Rare Genes MovementInclusion, belonging, and disabilityThe story and message behind I Am RareWhat Melissa hopes doctors and researchers will learn from families like hersRare disease is more than a diagnosis—and a medical chart can never tell us everything about the person behind it. Check out Melissa's Book I Am Rare available on Amazon:  I Am Rare: White Boyer, Melissa, Piwowarski, Marcin: 9798993195902: Amazon.com: Books Support the show

About

Rare Connection is a podcast dedicated to rare diseases, undiagnosed conditions, patient advocacy, medical research, and the people working to improve the lives of those living with rare disorders. Originally launched as Nutrition Equity, the podcast expanded into Rare Connection to reflect its broader mission: sharing the stories, science, and research behind all 10,000+ known rare diseases—not just those related to the Medical Nutrition Equity Act. Each episode features conversations with patients, caregivers, physicians, researchers, nonprofit leaders, advocates, and biotechnology experts. Together, we explore rare diseases, genetic disorders, newborn screening, clinical trials, emerging treatments, healthcare policy, diagnostic journeys, and the challenges of living with conditions that are often misunderstood. In medicine, common conditions are often referred to as "horses," while rare diseases are known as "zebras." Although each rare disease affects relatively few people, more than 300 million people worldwide live with a rare disease. Collectively, rare diseases impact more people than many realize, yet they are frequently underdiagnosed, misdiagnosed, or diagnosed only after years of searching for answers. I host this podcast not only as an advocate, but also as someone living with Homocystinuria (HCU), a rare inherited metabolic disorder. I understand firsthand how isolating a rare diagnosis can be and how important education, research, and community are for patients and families. Whether you are a patient, caregiver, healthcare professional, researcher, policymaker, student, or simply curious about rare diseases, Rare Connection aims to educate, inspire, and connect people through real conversations and expert insights. Video episodes are available on YouTube through Rare_Chef, with audio available on all major podcast platforms. If you have a rare disease, undiagnosed condition, or work in rare disease research, advocacy, or healthcare and would like to be a guest, I'd love to hear from you. Please contact me at joanna.ball41@gmail.com.  Rare Connection is more than a podcast—it's a growing community. Beyond sharing educational interviews, I help connect patients and families with rare disease organizations, Facebook support groups, advocacy groups, clinical trial information, researchers, and others who may be able to provide support or answer questions. Sometimes the most important step is simply helping someone realize they are not alone.