On One Condition

Janee lives with Ebstein's Anomaly, a rare congenital heart defect that has shaped every stage of her life. Diagnosed at birth and undergoing open-heart surgery at just seven years old, Janee shares the physical realities of living with arrhythmias, repeated hospital admissions, and the possibility of needing a heart transplant in the future. Yet throughout our conversation, what stands out most i...

This episode of On One Condition follows Jenny Trefzger’s journey through persistent abdominal and groin pain after surviving stage IV colon cancer. After years of scans, colonoscopies, PET imaging, blood tests, spine evaluations, pain procedures, and repeated reassurances that cancer had not returned, Jenny eventually encountered the possibility of Anterior Cutaneous Nerve Entrapment Syndrome (AC...

This episode is both about Carolina and her daughter Mariana’s journey with Pfeiffer Syndrome, and about how rare disease families can truly impact healthcare. Carolina shares the long and emotionally exhausting path to diagnosis, the repeated hospitalizations and surgeries Mariana endured, and the emotional impact of raising a child with a visible rare disease. What stands out throughout the conv...

Melissa it the mother of Taylor, who lives with Pura Syndrome, an ultra-rare neurodevelopmental condition that went undiagnosed for 23 years. Melissa shares the emotional weight of living for decades without answers, the moment of finally receiving a diagnosis, and how uncertainty transformed into purpose. This conversation is a reminder that rare disease stories are not only about struggle — they...

Ronna lives with diffuse systemic scleroderma, a rare and complex autoimmune condition that affects the skin and vital organs like the lungs, heart, and digestive system. What began as years of unexplained symptoms evolved into a life-altering diagnosis, bringing shock, fear, and uncertainty, especially as a young mother. Ronna speaks candidly about the emotional weight of diagnosis, the reality o...

When Sierra was diagnosed with Visual Snow Syndrome (VSS), little was known about this condition, and it was extremely difficult for her to get a diagnosis. By founding the Visual Snow Initiative, Sierra moved mountains to increase awareness and help bring recognition, research, and support to millions worldwide. VSS is a neurological condition that affects how the brain processes visual and senso...

Alexa’s daughter, Charlotte, lives with limb-girdle muscular dystrophy 2C (LGMD2C), a rare genetic disorder leading to childhood-onset progressive muscle weakness. In this discussion, Alexa takes us on a journey from an unexpected diagnosis at just two years old, to finding hope through groundbreaking gene therapy. What stands out is the way Alexa describes living with the condition not as a singl...

Kelly and Avery are two advocates living with Collagen VI-related congenital muscular dystrophy (CMD), an ultra-rare neuromuscular condition that causes progressive muscle weakness and impacts mobility and respiratory function. They share their personal journeys with disability, discussing how their condition shaped their childhood, their transition to using power wheelchairs, and the societal ass...

Carter lives with multiple conditions, and this episode is focused on two of them: Ehlers-Danlos Syndrome (EDS) and Mast Cell Activation Syndrome (MCAS). Carter’s story is one of quiet endurance, misdiagnosis, rediscovery, and ultimately purpose. Born with classical EDS caused by a collagen gene variant, Carter spent two decades sensing “something wasn’t quite right” before receiving a diagnosis....

Sylvain speaks with Roberta about living alongside Alagille syndrome through her daughter Chloe’s journey. Roberta shares what it means to parent a child with a rare, multi-system condition, from the shock of an early diagnosis, to years dominated by relentless itching, sleep deprivation, and the emotional weight of watching her child suffer. The conversation explores not only the medical realitie...

Brandon shares a deeply personal and grounded account of living with granulomatosis with polyangiitis (GPA), a rare and potentially life-threatening autoimmune vasculitis. Brandon walks us through his diagnosis as a young Division I athlete, the long road to remission, and the physical and emotional toll of repeated relapses, impacting his lungs, kidneys, and identity as a runner. Beyond the medic...

Sylvain speaks with Gay Grossman about life with ADCY5, a rare genetic movement disorder, and the journey she and her daughter Lilly have travelled together. Gay shares the long and often lonely road to diagnosis, the physical realities of a condition that affects the body but not the mind, and the quiet resilience Lilly has shown since childhood. The conversation moves through years of misdiagnos...

Marguerite shares the story of her son Louis and their life with Prader-Willi syndrome (PWS), a complex rare disease. Marguerite speaks with honesty, warmth and clarity about the medical, emotional and practical realities of raising a child with a rare genetic condition, from Louis’s fragile start in neonatal intensive care to adulthood in a specialist supported living environment. She explores co...

This is the story of Yiannis, nicknamed “Mr. Sunshine”, told by his mother Angela. Yiannis is a 5-year-old boy who lives with the ultra-rare IRF2BPL-related disorder, which has affected his development in many ways. Angela describes the profound ways in which this condition has reshaped their lives, and how hope is their drive to make a difference for Yiannis and other children affected by IRF2BPL...

Kayleigh opens up about living with Addison’s disease, a rare condition where the adrenal glands fail to produce enough cortisol. Diagnosed at just 15, Kayleigh describes the medical journey that led to her diagnosis, the daily routines that keep her well, and the emotional resilience she’s built along the way. Despite the challenges of balancing chronic illness with study and performance dreams i...

Erika shares her family’s seven-year journey to find a diagnosis for her son, Urban, who was eventually found to have SATB2-associated syndrome. With warmth and candour, Erika explains what it’s like to live through years of uncertainty, to celebrate small milestones, and to help build a global community. Erika reflects on motherhood, advocacy, and balance – from the early fears of losing her chil...

Acromegaly is a rare condition caused by a pituitary tumour that leads to excess growth hormone. In this episode, Carolyn shares candidly how her symptoms, which developed slowly and over a long period of time, were mistaken for menopause or normal aging, until a series of unusual infections led to her diagnosis. She reflects on the shock of being told she had a brain tumour, the challenges of und...

Giselle shares her journey with Cushing syndrome, a rare and often misunderstood condition caused by an overproduction of cortisol. For years, Giselle’s symptoms were dismissed by doctors as lifestyle-related issues, despite her insistence that something deeper was wrong. She describes the frustration of being unheard, the relief of finally receiving a diagnosis, and the resilience it took to advo...

Dariya’s rare autoimmune kidney condition, HSP Nephritis, has shaped much of her childhood and continues to affect her life today. Diagnosed as a child after a long and difficult journey to recognition, Dariya opens up about the physical struggles, hospital experiences, and the lasting impact of her condition. She describes how it affected her mental well-being, leading to PTSD, OCD, and borderlin...

Kelly speaks with openness and wisdom about living with a condition that is not life-threatening, but deeply life-altering – wet age-related macular degeneration (Wet MD). From the shock of her first diagnosis to the reality of ongoing eye injections, she offers a candid look into the emotional, physical, and practical challenges of losing central vision. She shares a down-to-earth approach to ada...

Daniel lives with a rare genetic condition, Tuberous Sclerosis Complex (TSC), that results in non-cancerous tumors to grow in various organs, including the brain. From being diagnosed as a child through visible skin signs to managing the complexities of healthcare and advocacy as an adult, Daniel’s journey is marked by courage and community. He opens up about the challenges of transitioning into a...

Nate shares his journey with HLH (hemophagocytic lymphohistiocytosis), a rare and life-threatening immune disorder. Misdiagnosed with Crohn’s disease, he endured over 16 surgeries and a complete removal of his colon before receiving the right diagnosis, leading to a bone marrow transplant that saved his life. Nate reflects deeply on his path so far, marked by systemic healthcare issues, a search f...

Rob shares his personal journey growing up with severe haemophilia A, a rare bleeding disorder. Diagnosed as a baby due to family history, Rob and his brothers inherited the condition from their mother, who is a carrier of a mutated gene leading to haemophilia. His story spans from childhood limitations, frequent injections, and a sense of isolation, to the profound impact a life-changing treatmen...

Taylor shares her traumatic and transformative journey of being diagnosed with a rare condition – atypical hemolytic uremic syndrome (aHUS) – triggered during childbirth. Her story is one of medical chaos, survival against all odds, and learning to mother through unimaginable obstacles. With grace and humour, Taylor opens up about the physical devastation of her illness, the emotional toll of bein...

Kevin opens up about living with PKU, a rare metabolic condition diagnosed at birth that requires lifelong dietary management. As a passionate advocate and storyteller, Kevin walks us through his journey, from early challenges of growing up with a restrictive diet to becoming a global voice for the PKU community. The conversation dives into mental health, feelings of isolation, access disparities...