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 ch...
Duchenne Musculuar Dystrophy: The Heart Connection with David Craig from Sarcomatrix Therapeutics
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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 discusses S-969, an investigational oral drug candidate designed to support skeletal and cardiac muscle through an approach that does not depend on a person’s specific Duchenne mutation.
We discuss what resear...
Sanfilippo Syndrome with Chelsea from Michigan
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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 brought an answer the family never expected. Chelsea shares who Elle is, their journey to diagnosis, and how their family became advocates working to raise awareness and fund research toward...
HCU & NF1: Mathew’s Story...
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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).
Concerns about missed developmental milestones eventually led to a metabolic specialist and Mathew’s HCU diagnosis at age seven. Joseph describes problems with earlier lab testing that delayed answers. Despite Ma...
Living With Myasthenia Gravis: Tracking Symptoms Between Visits | Camden Hill, California
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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 daily health and communicate more clearly with providers.
We explore life with myasthenia gravis, the challenges of explaining changing symptoms, and the importance of making patients’ experiences visible beyond the exam room. Camden...
Rare Patient Voice with Wes Michael President & Founder
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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 panel that puts privacy, trust, accessibility, and respect at the center.
Wes explains how Rare Patient Voice began by elevating rare‑disease communities and has no...
Dystonia-Parkinsonianism With the Stone Family from Maryland
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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, limitations in insurance coverage, and how the right equipment can improve safety and independence for disabled people and their caregivers.
#denovo, #Parknson's Disease, #DYT16, #EyeGsze, #Nonverbal
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Wiedemann-Steiner Syndrome With Melissa From New Jersey
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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 it was like to receive an answer for a condition few people have heard of...
Ceiling Track Lifts and Eye Gaze Technology With Jeneva from Maryland
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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 has transformed Rob's daily life. We discuss the differences between ceiling-mounted and traditional Hoyer...
Narcolepsy With Heather from Maine
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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 NORD (National Organization for Rare Disorders) Ambassador, who is also Miss Maine for America Strong 2026 and preparing...
Undiagnosed With Christine from Pennsylvania
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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 biochemistry, cell and molecular biology, and science education, she has spent years searching for answers for her own undiagnosed condition while also advocating for her child, who...
FoxG1 With Patricia from New Jersey in Person in Pennsylvania
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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, specialized surgeries, and the challenges of raising a child with a complex rare disease. She al...
EveryCat Health Foundation: The Cat Connection to Long Covid Part 2 With Dr Maggie Placer
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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 COVID in humans. While the research is ongoing, it highlights how collaboration across medical and veterinary fields can accelerate scientific discovery.
Whether...
EveryCat Health Foundation: The Cat Connection to Long COVID In Humans with Dr Placer
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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, advances in feline research, and how studies of Feline Infectious Peritonitis (FIP) have...
Rare Connection 3rd Anniversary Episode With Dr. Margurite Goiter-Stam from Make a Wish International
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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 platform connecting patients, caregivers, advocates, researchers, and healthcare professionals. This episode also marks the show's tenth international interview and features a guest joining us from the Netherlands.
Dr...
Can Targeted Radiation Change the Future of Brain Cancer? | Dr. Marc Hedrick | Plus Therapeutics
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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 surrounding the brain and spinal cord, as well as recurrent glioblastoma, one of the most aggressive forms of brain cancer.
The conversation explores the challenges of diagnosing central nervous...
McCune Albright Syndrome With Dr. Giwa From Atossa Therapeutics
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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, musculoskeletal disease, and innovative therapeutic development for rare conditions.”
Together, they explore McCune-Albright Syndrome (MAS), a rare mosaic genetic condition that can affect multiple systems throughout the body. The conversation covers...
Friedreich's Ataxia With Alexis From Tennessee
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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 affects coordination, balance, and independence. Like many in the rare disease community, Alexis went through multiple doctors and sp...
Adrenoleukodystrophy With Elisa From New York
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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 this episode, Elisa shares Aidan’s story and how she turned her grief into advocacy. She played a key role in passing ALD newbor...
26 Year Stomach Cancer Survivor Healing with Food with Chef Chuck
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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 navigate one of the most overlooked challenges after diagnosis: how to actually implement nutrition in daily life<...
Denovo (Genetic But Not Inhereited) With Jenny From Texas
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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 inherited. They are de novo mutations, meaning they occurred for the first time in her children.
Avery, now 19, has Phelan-McDermid Syndrome, a condition often associated with auti...
New Drug For Duchenne Muscular Dystrophy With Dr. Steven Quay
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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. Unlike tamoxifen, which must be metabolized in the body, (Z)-endoxifen delivers the active compound directly—helping to reduce variability between patients and improve consistency in dos...
Schizencephaly with Glen from California
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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:
SchizencephalyPolymicrogyriaHypothalamic HamartomaFor more than fifteen years Glenn lived with 10–20 seizures every day, severe head pain, and neurological symptoms that dramatically impacted his life.
Schizencephaly is an ultra-rare brain malformation that occurs during fetal development. It creates abnormal clefts in the brain, which can lead to sy...
Atypical Hemolytic Uremic Syndrome With Taylor From California
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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 triggers uncontrolled complement activation and widespread clotting.
Historically, cases like Taylor’s were often labeled as “aHUS,” but many clinicians now believe that pregnancy-induced, complement-mediated clotting disorders represent a distinct subtype
Spinal Muscular Atrophy With Candis From California
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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, eventually choosing to leave the industry for a more stable career in public service. She now serves as the Chief Equity Officer for California’s Department of Rehabilitation.
A lifelong ad...
Accelerated Global Clinical Trial With Julio Martinez- Clark
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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 way forward. But around the globe, there are regions where early-stage studies can move faster, more affordably, and with greater flexibility — if fa...
New Drug for RDEB Skin Condition With Professor Mark Lowdell From The UK
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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 genetic condition where skin and mucous membranes are extremely fragile. In this episode of Rare Connection, host Joanna speaks with Professor Mark Lowdell — Chief Scientific Officer & Co-Founder of INmune Bio and Professor of Cell & Tissue Therapy at University College London — about a promising cell therapy called CORDStrom™, developed for RDEB and currently progressing through clinical d...
Dyscalculia With Michelle From Pensylvania
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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 affects number sense and math.
Michelle shares her journey from being told she “couldn’t” — couldn’t go to college, couldn’t get a degree, couldn’t get published — to proving every one of those predictions wrong. Today, Michelle is a published author on platforms including The Mighty, Dyscalculia Blog, The Reluctant Spoonie, and the Non-Verbal Learning Project. Her photography...
Partial Trisomy 8Q Duplication Syndrome Wuth Saida From California
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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 Partial Trisomy 8q Duplication Syndrome, an ultra-rare genetic condition.
Saida shares her journey growing up with neurological challenges and multiple types of epilepsy, including focal, grand mal, idiopathic, and absence seizures. Her story is one of resilience, faith, and advocacy — showing the world that rare disease and disability don’t define a person’s worth...
Okur Chung Neuro Developmental Syndrome (OCNDS) With Jillian from Massachusetts
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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 worldwide, OCNDS is an ultra-rare genetic condition caused by variants in the CSNK2A1 gene.
Jillian shares the challenges of Ellie’s early epilepsy diagnosis, the long road to genetic testing, and how life changed after finally receiving answers. As a founding member of the CSNK2A1 Foundation, she is working to br...
NEDAMSS With Liz From Florida
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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 therapy. We discuss what this means for the rare disease community, the hope it brings to families, and the path toward future treatments.
In the video version of this episode, you’ll also see a moving photo tribute of Stephanie’s life, highlighting both her journey and the determination of her family to push research...
Global Drug Access For Rare Diseases With Aayush Goyal of MedsPartner
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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 episode of Rare Connection, host Joanna Ball sits down with Aayush Goyal, founder of MedsPartner, a platform that helps patients legally access medications from other countries through the named patient import pathway.
We cover:
🔹 The rare disease drug access crisis across borde...
Palliative care with Anne Front LMFT from California
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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 episode of Rare Connection, host Joanna Ball welcomes Ann, a licensed psychotherapist, breast cancer survivor, and caregiver to her husband who is living with metastatic prostate cancer. Anne is also the clinic manager and palliative care social worker for the Motion Picture Television Fund, where she supports members of the entertainment industry through emotional and practical chal...
TNRC6B With Keyundra From Arkansas
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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:
🫁 Laryngomalacia – a rare airway disorder
🦠 Neutropenia – a rare immune disorder
🧬 TNRC6B gene mutation syndrome – linked to autism, ADHD, global developmental delays, feeding challenges, and behavioral conditions like OCD, ODD, and bipolar disorder
Keyundra is the author of the children’s book Zaire’s Big Feeling About Feeding, which helps children and fa...
Idiopathic Intercranial Hypertnsion with Stephanie From Maryland
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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 disorder involving increased pressure around the brain with no detectable cause.
Stephanie opens up about the long path to diagnosis, the life-altering symptoms of IIH, and how she eventually accessed treatment through an off-label use of a GLP-1 weight loss drug—a medication not FDA-approved for IIH, but one that is showing promise in redu...
CLCN6 With Paul From California
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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 began with developmental delays and years of unanswered questions. After extensive genetic testing, his family finally received a diagnosis—one so rare that few doctors had even heard of it. Today, Paul is leading the charge to raise $1.5 million to fund a life-saving gene therapy that could offe...
Sarcoidosis With Regina From Indiana
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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.
After her sarcoidosis diagnosis, Regina launched UniquelySarc, a handmade earring line dedicated to raising sarcoidosis awareness. She is the author of To Hell with Sarcoidosis and Other Illnesses and actively supports the rare disease community by moderating the AnCan sarcoidosis support group and leading a creative writing class to help others pr...
Glutaric Acidemia 1 with Serena From New Zealand 2nd Anniversary episode
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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 Deficiency Syndrome, a rare metabolic disorder that impairs glucose transport to the brain — leading to seizures and neurodevelopmental challenges. One of the most critical treatments? A clinically managed ketogenic diet, tailored specifically for medical use.
Together, we discuss:
🧠 What GLUT1 Deficiency is and how it’s diagnosed
🥣 How...
Ank 3 With Tami from Kansas
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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 multiple conditions impact their daily life, and how she balances caregiving with her work in early childhood education.
We discuss:
Jonathan’s rare disease diagnosis and overlapping conditions (including hypotonia, autism, ADHD, and more)The emotional and logistical challenges of raising a child with multiple complex needsTami’s insights as a teacher working with childr...Mental Health and Rare Disase with Frank From New York
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🧠 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 to make support more accessible for our community.
🌍 Living with sarcoidosis and other chronic conditions, Frank brings a deeply personal and professional perspective. He recently moderated a panel on mental health at the World Orphan Drug Congress USA and is now leading efforts to help rare disease patients find affordable, qualif...
Orphan Disease of HLA-B27 With Brenda From Florida
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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 suffer from spontaneous tendon tears and systemic inflammation. One key clue? She is HLA-B27 positive, a genetic marker linked to certain autoimmune conditions — but her exact diagnosis remains elusive.
💡 In this episode, you’ll learn:
What HLA-B27 is and why it matters in autoimmu...