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
Latest Episodes
Dystonia-Parkinsonianism With the Stone Family from Maryland
In this episode of Rare Connection, Joanna speaks with Jeneva and Roger Stone and their son Rob about living with Dystonia-Parkinsonianism, a rare neurological condition affecting movement and speech.Rob communicates using eye-gaze techn...
Wiedemann-Steiner Syndrome With Melissa From New Jersey
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 ...
Ceiling Track Lifts and Eye Gaze Technology With Jeneva from Maryland
How do you advocate, communicate, and maintain independence when you can't rely on your own voice or easily transfer from bed to wheelchair?In Part 1 of this special two-part episode of Rare Connection, I sit down with J...
Narcolepsy With Heather from Maine
Living with Narcolepsy | Heather's Journey from Surviving to ThrivingNarcolepsy is often misunderstood. Many people associate it with suddenly falling asleep, but the reality is far more complex. Living with narcolepsy can affect ...
Undiagnosed With Christine from Pennsylvania
What happens when someone with a background in scientific research becomes the patient?In this episode of Rare Connection, I welcome Christine McGarvey, Pennsylvania State Ambassador for the National Organization for Rare D...