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
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 technology and shares his perspective on communication, independence, advocacy, caregiving, and his hopes for future employment. The Stone family also discusses ceiling-track Hoyer lifts,...
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 i...
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 Jeneva Stone, Maryland NORD Ambassador, disability advocate, and mother of Rob Stone, who lives with the ultra-rare movement disorder DYT-PRKRA.
This episode focuses on the innovative technology that h...
Living with Narcolepsy | Heather's Journey from Surviving to Thriving
Narcolepsy is often misunderstood. Many people associate it with suddenly falling asleep, but the reality is far more complex. Living with narcolepsy can affect work, school, relationships, and everyday life, and many people spend years searching for the right diagnosis.
In this episode of Rare Connection, Joanna sits down with Heather, the Maine NO...
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 Disorders (NORD), member of the Undiagnosed Diseases Network Foundation (UDNF) PEER Group, scientist, educator, advocate, and mother.
Christine's journey is unlike most. Despite earning degrees in b...
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 New Jersey advocate, author, and mother Patricia Geurds.
Patricia shares her daughter Kinsley's journey with FOXG1 syndrome, discussing the realities of hospitalizations, feeding tubes, a Broviac catheter, sp...
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 how research that began with treating cats has contributed to a broader understanding of antiviral therapies and why researchers are now studying Remdesivir as a potential treatment for Long...
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, the idea that the health of humans, animals, and our shared environment are deeply connected.
Dr. Placer begins with a special presentation highlighting the history of the EveryCat Health Foundation, advan...
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 serious illness.
What began three years ago as Nutrition Equity—a podcast focused on access to medically necessary nutrition—has grown into Rare Connection, a global p...
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 affecting the central nervous system.
Dr. Hedrick discusses leptomeningeal metastases (LM), a serious condition that occurs when cancer spreads to the membranes and fluid surround...
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 endocrinologist, physician-scientist, and clinical lead for rare disease drug development at Atossa Therapeutics. He brings more than 15 years of experience in endocrinology, musculosk...
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 finding the right support.
In this episode of Rare Connection, I speak with Alexis Baker, who shares her journey to a diagnosis of Friedreich's ataxia, a rare, progressive condition that...
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 th...
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 navig...
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 inhe...
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. Unl...
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:
- Schizencephaly
- Polymicrogyria
- Hypothalamic Hamartoma
For more than fifteen years Glenn lived with 10–20 seizures every day, severe head pain, and neurological symptoms that dramat...
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 trigg...
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, e...
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...
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