Rare Connection
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.
Rare Connection
Orphan Disease of HLA-B27 With Brenda From Florida
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In this episode, I sit down with Brenda, a woman navigating the challenges of a painful, disabling, and unnamed orphan disease. Despite testing negative for VEXAS, relapsing polychondritis, and MAGIC syndrome, Brenda continues to suffer from spontaneous tendon tears and systemic inflammation. One key clue? She is HLA-B27 positive, a genetic marker linked to certain autoimmune conditions — but her exact diagnosis remains elusive.
💡 In this episode, you’ll learn:
- What HLA-B27 is and why it matters in autoimmune diagnosis
- How spontaneous tendon ruptures can signal a deeper immune issue
- What it’s like to live with a disease that has no name
- Why orphan disease patients often go years without answers
- How Brenda is advocating for herself and others despite uncertainty
- Where to find support and resources for HLA-B27–associated conditions
Stay Tuned for a quiz at the end of the episode. Test Your knowledge Play with friends and compete to see who gets the most answers right. Answers will be video only on my socials. See below
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🔗 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 intro
02:53 Diagnosis story
05:32 Early Symptoms and medications attempted
08:55 Medical Gas Lighting
12:10 suit of Armor
13:38 PRP & Stem Cell
14:05 Anti-Inflammatory diet
18:37 Blood Test for HLAB27
20:45 Doctors theory (sinus infection that triggered the gene
22:00 The Name doesn't matter
25:50 how doctors ruled out other conditions
31:32 specialists involved in care
33:00 Travel For Care
37:29 the little things
45:44 Advice for others
48:45 conclusion
51:28 HLAB27 quiz