On One Condition
by Sylvain Berthelot
Episode 94: Amanda Cole - Malan Syndrome
About this podcast
On One Condition is a podcast for anyone who wants to learn about a specific health condition. Hear from people who live with a condition, how it affects them and how they manage it. Sylvain Berthelot has worked in the clinical trial industry for over a decade. He is naturally curious and passionate about how the body functions. Through his interviews, he aims to give fellow human beings a voice, spreading the word about the multitude of medical conditions that affect us.
Episodes
The newest 20 of 94 episodes
- Episode 94: Amanda Cole - Malan Syndrome · 33 min · Episode 94Amanda talks about her son Ben and his diagnosis of Malan syndrome, a rare genetic neurodevelopmental condition caused by a change in the NFIX gene, first identified in 2010 and…
- Episode 93: Niamh Foster - Ischaemic Stroke · 30 min · Episode 93In this episode of On One Condition, Sylvain talks to Niamh Foster about the ischaemic stroke she had at just 26 years old, a stroke caused by a blood clot blocking blood flow to…
- Episode 92: Andrew Longenecker - PBD · 33 min · Episode 92Andrew is the father of Diego, who was diagnosed with peroxisome biogenesis disorder (PBD), a rare and potentially devastating genetic condition affecting an organelle found in…
- Episode 91: Katie Gillick - Hypoparathyroidism · 46 min · Episode 91Katie's journey with hypoparathyroidism began unexpectedly, following surgery for thyroid cancer in her twenties. What followed was a profound period of uncertainty, brain fog…
- Episode 90: Monica Dubeau - CCI, Chiari & EDS · 38 min · Episode 90Monica shares her extraordinary journey through years of unexplained pain, repeated misdiagnoses, and a 20-month diagnostic odyssey that ultimately led to confirming that her…
- Episode 89: Janee Chandler - Ebstein's Anomaly · 32 min · Episode 89Janee 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…
- Episode 88: Jenny Trefzger - ACNES · 32 min · Episode 88This 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…
- Episode 87: Carolina Sommer - Pfeiffer Syndrome · 46 min · Episode 87This 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…
- Episode 86: Melissa Vaught - PURA Syndrome · 29 min · Episode 86Melissa 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…
- Episode 85: Ronna Boles - Scleroderma · 35 min · Episode 85Ronna 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…
- Episode 84: Sierra Domb - Visual Snow Syndrome · 53 min · Episode 84When 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…
- Episode 83: Alexa Colella - LGMD2C · 34 min · Episode 83Alexa's daughter, Charlotte, lives with limb-girdle muscular dystrophy 2C (LGMD2C), a rare genetic disorder leading to childhood-onset progressive muscle weakness. In this…
- Episode 82: Kelly Berger & Avery Roberts - Collagen 6 · 39 min · Episode 82Kelly and Avery are two advocates living with Collagen VI-related congenital muscular dystrophy (CMD), an ultra-rare neuromuscular condition that causes progressive muscle…
- Episode 81: Carter Hemion - EDS & MCAS · 35 min · Episode 81Carter 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…
- Episode 80: Roberta Smith - Alagille Syndrome · 38 min · Episode 80Sylvain 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…
- Episode 79: Brandon Hudgins - GPA · 39 min · Episode 79Brandon shares a deeply personal and grounded account of living with granulomatosis with polyangiitis (GPA), a rare and potentially life-threatening autoimmune vasculitis…
- Episode 78: Gay Grossman - ADCY5 · 33 min · Episode 78Sylvain 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…
- Episode 77: Marguerite Hughes - PWS · 30 min · Episode 77Marguerite 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…
- Episode 76: Angela Papazoglou - IRF2BPL · 46 min · Episode 76This 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…
- Episode 75: Kayleigh Berkoski - Addison's Disease · 30 min · Episode 75Kayleigh 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…







