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Rare Connection
Episodes
76 episodes
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...
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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...
NEDAMSS With Liz From Florida
In this episode of Rare Connection, Joanna speaks with Liz, mother of Stephanie, about the ultra-rare IRF2BPL genetic disorder—also known as NEDAMSS—and the groundbreaking milestone of the first-ever IRF2BPL gene replacement the...
Global Drug Access For Rare Diseases With Aayush Goyal of MedsPartner
Imagine discovering that a life-saving treatment for your rare condition exists — but you can’t get it because it’s not available or affordable in your country. That’s the reality for countless families around the world.In this global ep...
Palliative care with Anne Front LMFT from California
What’s the difference between palliative care and hospice? Why is palliative care still misunderstood—and how can it support people with cancer, rare diseases, and other serious conditions long before end-of-life?In this powerful episod...
TNRC6B With Keyundra From Arkansas
In this powerful episode of Rare Connection, host Joanna Ball sits down with special needs mom and author Keyundra, who shares the emotional and medical journey of her son Zaire — a child living with multiple rare conditions, including:...
Idiopathic Intercranial Hypertnsion with Stephanie From Maryland
In this episode of Rare Connection, host Joanna speaks with Stephanie from the EveryLife Foundation for Rare Diseases, who shares her journey living with Idiopathic Intracranial Hypertension (IIH)—a rare neurological diso...
CLCN6 With Paul From California
In this powerful episode of Rare Connection, we meet Paul, the president of Cure CLCN6 and the father of Paxton, a young boy diagnosed with an ultra-rare visit mutation on the CLCN6 gene.Paxton’s journey beg...
Sarcoidosis With Regina From Indiana
In this episode of Rare Connection, host Joanna speaks with Regina, a sarcoidosis patient, author, and creative advocate who’s transforming her personal health journey into a source of awareness and empowerment.Aft...
Glutaric Acidemia 1 with Serena From New Zealand 2nd Anniversary episode
In this special Rare Connection Live episode, host Joannal celebrates 2 years of amplifying rare voices by welcoming Serena, a rare disease advocate and parent from New Zealand.Serena’s daughter lives with GLUT1...
Ank 3 With Tami from Kansas
In this episode of Rare Connection, host Joanna sits down with Tami — a teacher, advocate, and mother of 7-year-old Jonathan, who lives with a rare ANK3-related disorder. Tami shares her family's diagnostic journey, how Jonathan's mult...
Mental Health and Rare Disase with Frank From New York
🧠 Mental health is rarely optional when you're living with a rare disease. Join Joanna, host of Rare Connection, for a powerful live conversation with Frank, a rare disease patient and mental health advocate who's working...
Orphan Disease of HLA-B27 With Brenda From Florida
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 ...