Rare Connection

Send us Fan Mail 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...

Send us Fan Mail 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...

Send us Fan Mail 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 epilep...

Send us Fan Mail 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, th...

Send us Fan Mail 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 vers...

Send us Fan Mail 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...

Send us Fan Mail 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 livin...

Send us Fan Mail 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, glob...

Send us Fan Mail 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...

Send us Fan Mail 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 e...

Send us Fan Mail 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 Sar...

Send us Fan Mail 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 crit...

Send us Fan Mail 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...

Send us Fan Mail 🧠 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 profe...

Send us Fan Mail 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 c...

Send us Fan Mail In this episode of Rare Connection , host Joanna Ball speaks with [Guest Name], who shares their powerful journey with [Rare Disease]. Together, they discuss diagnosis challenges, treatment paths, daily life, and advocacy work. Whether you're a patient, caregiver, medical professional, or just curious—this conversation brings rare insight into a rarely understood condition....

Send us Fan Mail In this milestone 50th episode of Rare Connection , host Joanna sits down with Jenny, the powerful voice behind the blog Life’s A Polyp . Diagnosed with Familial Adenomatous Polyposis (FAP) as a child, Jenny underwent a total colectomy at age 9, followed by a series of life-threatening complications that led to multiple surgeries, an ileostomy, a reversal, and eventually the diagn...

Send us Fan Mail In this episode of Rare Connection , I sit down with Ben, a rare disease researcher and advocate with over 15 years of experience in cell and molecular biology, clinical research, and leadership. Ben shares his personal journey living with lymphocytic colitis and oral lichen planus—two often misunderstood conditions—and his professional insights from working on projects like the C...

Send us Fan Mail Melissa was 17 when she had her first child Evan.  Evan was born with a cleft palate and developed 30 other conditions throughout his life.  He wasn't expected to live and doctors told her to take him home and let him pass naturally.  She was given what she calls a never list (He will never sit up, he will never talk, he will never stand etc).  She was told she could have oth...

Send us Fan Mail Guest: Khartik Uppalapati, Co-founder of RareGen Youth Network Episode Description: In this episode of Rare Connection, host Joanna welcomes Khartik Uppalapati, a remarkable young leader at the intersection of biomedical research and rare disease advocacy. Khartik shares his personal journey with rare conditions, which ignited his passion for scientific innovation and healthcare p...

Send us Fan Mail Guest(s): Allison & Elizabeth Episode Summary In this episode of Rare Connection , I’m joined by twin sisters Allison and Elizabeth, who both have familial Cerebral Cavernous Malformation (CCM) —a rare genetic condition that causes clusters of abnormal blood vessels in the brain and spinal cord. They share their personal diagnosis journeys, how CCM has impacted their lives, an...

Send us Fan Mail Rare disease patients often face long diagnostic delays, limited access to clinical trials, and challenges in finding treatments. Traditional medical records don’t always capture the full picture, making it harder to identify and support these patients. But what if advanced data and AI could change that? In this episode of Rare Connection , I’m joined by Jeff McDonald, CEO of Kyth...

Send us Fan Mail In this episode of Rare Connection , Mimi shares her 20-year battle for a Sjögren’s syndrome diagnosis —a disease often misunderstood as just a "dry eye disorder" but one that led to respiratory failure and lung scarring in her case. She opens up about her journey with pulmonary fibrosis, nightly oxygen therapy, and the challenges of being taken seriously by medical prof...

Send us Fan Mail In this episode of Rare Connection , I sit down with Chris, aka Mr. Ohh , who shares his journey of living with AATD, undergoing weekly infusions , and facing the challenges of this condition—all while using humor as his greatest weapon. We dive into what it’s like to navigate daily life with AATD, the lung-liver connection , and how laughter helps him push through even the toughe...

Send us Fan Mail Hereditary Hemochromatosis (HHC) is a genetic condition that causes the body to absorb too much iron, leading to serious health complications if left untreated. Many people go undiagnosed for years, mistaking symptoms for other conditions. In this episode of Rare Chef , I sit down with Michael J. Tallon , an author, traveler, and rare disease advocate, to discuss his personal jour...