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.
Episodes
86 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...
FoxG1 With Patricia from New Jersey in Person in Pennsylvania
FOXG1 doesn't just affect the person living with the diagnosis—it changes an entire family.In this special episode of Rare Connection, I travel to Pennsylvania for my first in-person podcast interview with ...
EveryCat Health Foundation: The Cat Connection to Long Covid Part 2 With Dr Maggie Placer
n Part 2 of my conversation with Dr. Maggie Placer from EveryCat Health Foundation, we continue our discussion of the One Health approach and the surprising connections between veterinary and human medicine.This episode explores h...
EveryCat Health Foundation: The Cat Connection to Long COVID In Humans with Dr Placer
Welcome to Season 7 of Rare Connection!What can cats teach us about human health?In this episode, Joanna Ball welcomes Dr. Maggie Placer of the EveryCat Health Foundation to explore the growing field of One Health...
Rare Connection 3rd Anniversary Episode With Dr. Margurite Goiter-Stam from Make a Wish International
In this special third anniversary episode of Rare Connection, host Joanna Ball welcomes Dr. Marguerite A.W. Gorter-Stam for a conversation about quality of life, emotional well-being, patient-centered care, and the role hope can play during ser...
Can Targeted Radiation Change the Future of Brain Cancer? | Dr. Marc Hedrick | Plus Therapeutics
In this episode of Rare Connection, host Joanna Ball speaks with Dr. Marc Hedrick, President and CEO of Plus Therapeutics, about emerging technologies aimed at improving outcomes for patients with some of the most difficult-to-treat cancers aff...
McCune Albright Syndrome With Dr. Giwa From Atossa Therapeutics
What happens when one rare condition affects the bones, skin, hormones, and development—but looks completely different in every patient?“In this episode of Rare Connection, Joanna is joined by Dr. Adebola Giwa, a pediatric endocrinologis...
Friedreich's Ataxia With Alexis From Tennessee
What does it really take to maintain independence when your body is changing?For people living with rare diseases, that question becomes part of everyday life—navigating changes in mobility, access to care, and the challenge of fi...
Adrenoleukodystrophy With Elisa From New York
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 ...
26 Year Stomach Cancer Survivor Healing with Food with Chef Chuck
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 stomac...
Denovo (Genetic But Not Inhereited) With Jenny From Texas
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 diagno...
New Drug For Duchenne Muscular Dystrophy With Dr. Steven Quay
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...
Schizencephaly with Glen from California
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 cond...
Atypical Hemolytic Uremic Syndrome With Taylor From California
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 crisi...
Spinal Muscular Atrophy With Candis From California
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 los...
Accelerated Global Clinical Trial With Julio Martinez- Clark
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 dis...
New Drug for RDEB Skin Condition With Professor Mark Lowdell From The UK
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 gen...
Dyscalculia With Michelle From Pensylvania
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 a...
Partial Trisomy 8Q Duplication Syndrome Wuth Saida From California
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 Parti...
Okur Chung Neuro Developmental Syndrome (OCNDS) With Jillian from Massachusetts
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 w...