Rare Connection

Send us Fan Mail Duchenne muscular dystrophy affects more than movement—it also affects the heart. In this episode of Rare Connection, Joanna Ball welcomes David Craig, founder and CEO of Sarcomatrix Therapeutics, to explore the heart connection and the work involved in bringing potential rare disease treatments to patients. David shares his family’s connection to rare genetic muscle disease and d...

Send us Fan Mail When you hear “dementia,” you probably think of Alzheimer’s disease and older adults. But children can develop dementia too. In this episode of Rare Connection, Joanna Ball welcomes Chelsea Walline to share the story of her daughter, Elle, who was diagnosed with Sanfilippo syndrome Type C at age seven. Following diagnoses of sensory processing disorder and autism, genetic testing...

Send us Fan Mail Your symptoms don’t stop when a doctor’s appointment ends. But how do you explain everything that happened between visits? In this episode of Rare Connection, Joanna Ball welcomes Camden Hill from California, founder of Areluno Health. Diagnosed with myasthenia gravis in 2017, Camden shares how his experiences navigating healthcare inspired him to help patients document their dail...

Send us Fan Mail What happens when signs of a second rare condition are dismissed because a child already has one diagnosis? For HCU Awareness Month, Joanna Ball welcomes Joseph, a father from the United Kingdom, to share the story of his 14-year-old son, Mathew. The youngest of five children, Mathew is nonverbal and lives with Classical Homocystinuria (HCU) and neurofibromatosis type 1 (NF1). Con...

Send us Fan Mail In this episode, Joanna speaks with Wes Michael , President and Founder of Rare Patient Voice , a market‑research industry veteran with over 40 years of experience. Wes shares how his unique background — from an MBA at the University of Chicago Booth School of Business to a BA in English from the University of Pennsylvania — shaped his mission to build a patient‑driven research pa...

Send us Fan Mail 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...

Send us Fan Mail 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 tha...

Send us Fan Mail 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 epis...

Send us Fan Mail 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 ,...

Send us Fan Mail 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...

Send us Fan Mail 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 hospitaliz...

Send us Fan Mail 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 Remdesi...

Send us Fan Mail 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...

Send us Fan Mail 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 Ra...

Send us Fan Mail 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 spread...

Send us Fan Mail 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...

Send us Fan Mail 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 ataxi...

Send us Fan Mail 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...

Send us Fan Mail 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 patien...

Send us Fan Mail 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 a...

Send us Fan Mail 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 st...

Send us Fan Mail 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 neur...

Send us Fan Mail 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 happ...

Send us Fan Mail 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 s...

Send us Fan Mail 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 b...