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 is not the medical complexity, but her remarkable resilience and positivity.

Janee reflects openly on growing up feeling different, hiding her surgical scar, and believing she had to keep her condition to herself. She explains how finding the congenital heart disease (CHD) community transformed her self-confidence, helping her realise she was not alone. That journey eventually inspired her to create The Heart Connection, a non-profit supporting adults living with congenital heart disease through practical care packages and a growing community of understanding.

This episode explores identity, belonging, fear, hope, and the extraordinary impact of finding people who truly understand your experience. Janee's warmth, honesty and determination shine throughout, making this an inspiring conversation about turning personal challenges into support for others.

The song that Janee chose is I Lived by OneRepublic.

Episode 89: Janee Chandler - Ebstein's Anomaly

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 (ACNES), a frequently overlooked cause of chronic abdominal wall pain.

The conversation explores the emotional burden of living with a cancer history, the challenge of distinguishing new symptoms from recurrence anxiety, and the importance of hands-on examination, self-advocacy, and specialist expertise.

Despite a long and frustrating diagnostic journey, Jenny is optimistic that she has found the right team who will be able to treat her chronic pain.

The song that Jenny chose is At The Limit by Yuki Hayashi.

Episode 88: Jenny Trefzger - ACNES

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 conversation is Carolina’s extraordinary resilience and compassion. Rather than allowing fear and trauma to define their lives, she transformed her family’s experience into advocacy, education, and systemic change through the organizations she founded, including Born a Hero.

The episode explores difficult but important topics: medical gaslighting, delayed diagnosis, the emotional toll on caregivers, bullying, mental health, and the urgent need for patient-centred healthcare. Yet despite the challenges, the conversation is filled with hope, warmth, and humanity. Carolina repeatedly returns to the power of kindness, collaboration, community, and listening to patients and families.

It is ultimately a story about turning pain into purpose, and about how rare disease families often become the strongest advocates, educators, and changemakers.

The song that Carolina chose is The Truth by Megan Woods.

Episode 87: Carolina Sommer - Pfeiffer Syndrome

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 are about resilience, discovery, community, and hope. Melissa speaks beautifully about seeing beyond limitations, recognising Taylor’s intelligence and individuality, and finding meaning through her work with the Pura Syndrome Foundation.

It is a moving episode about motherhood, purpose, and the extraordinary strength that grows from love.

The song that Melissa chose is Blessings by Laura Story.

Episode 86: Melissa Vaught - PURA Syndrome

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 of living with fatigue and invisible illness, and the difficult balance between protecting her health and continuing to participate in life. Her story highlights the importance of self-advocacy, mental health support, and the power of community, particularly through social media and patient groups.

Despite the challenges, there is resilience at the heart of Ronna’s journey. From signing up for a race she once feared, to redefining what participation in life looks like, she demonstrates a powerful determination to keep moving forward – not just for herself, but for her family. Her story is a reminder that chronic illness is often unseen, but never unfelt, and that empathy and understanding can make a profound difference.

The song Ronna chose is I Wanna Dance With Somebody by Whitney Houston.

Episode 85: Ronna Boles - Scleroderma

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 sensory information. Sierra describes the sudden and terrifying onset of her symptoms at 21, when her vision changed permanently in an instant. She speaks candidly about the relentless nature of her condition—constant visual disturbances, sensory overload, and insomnia—and how these symptoms disrupted every aspect of her life. Yet, beyond the physical impact, it is the emotional toll of being dismissed, misdiagnosed, and left without answers that stands out most.

What begins as a conversation about an often-overlooked condition quickly unfolds into a powerful story of resilience, medical trauma, and advocacy. Sierra’s journey reflects a broader issue within healthcare: the difficulty patients face when their condition doesn’t fit established frameworks.

Throughout the episode, Sierra offers a compassionate and honest perspective on living with chronic illness. She reminds us that resilience is often not a choice, but something we are forced to build, and that even small victories matter. Her story is both heartbreaking and inspiring, shining a light on the unseen struggles many people carry and the quiet strength it takes to keep going.

The song Sierra chose is Legend by Chronixx.

Episode 84: Sierra Domb - Visual Snow Syndrome

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 single moment of impact, but as something that unfolds over time—something she is “still reacting to almost 10 years later.” The conversation gently explores the realities of parenting a child with a rare disease: the constant planning, the invisible challenges, and the emotional complexity of watching your child grow up faster than they should have to.

Charlotte’s story is not only one of medical complexity, but also of resilience, empathy, and perspective. From advocating for herself at school to comforting a nervous nurse at just four years old, she embodies a maturity shaped by lived experience. The episode also highlights the power of community and science, particularly the life-changing impact of gene therapy and the families who push boundaries to make treatments accessible.

Above all, this episode is about hope: hope found in progress, in people, and in the extraordinary spirit of a young girl who feels “weightless” in the ocean; a place where her condition momentarily disappears.

The song that Alexa chose is Hallelujah by Jeff Buckley.

Episode 83: Alexa Colella - LGMD2C

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 assumptions they have had to challenge along the way. What emerges is not a story defined by limitations, but one of determination and community.

Beyond their personal experiences, both guests highlight the importance of advocacy – from mentoring younger people with CMD to participating in Rare Disease Week on Capitol Hill to raise awareness and influence policy. Their reflections underscore the urgency of improving diagnosis timelines, increasing research access, and ensuring people with disabilities are included in decisions that affect them.

Kelly and Avery host their own podcast, Wheel Talks, which provides a space for honest conversations about disability, independence, and representation. Their voices bring warmth, honesty, and hope about living fully while navigating a rare condition.

Ultimately, this episode is a powerful reminder that visibility, storytelling, and community can create meaningful change.

Episode 82: Kelly Berger & Avery Roberts - Collagen 6

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. Years of chronic pain, joint instability, GI issues, and nerve problems were compounded by mast cell symptoms that mimicked psychiatric illness – hallucinations, mood swings, anxiety.

We discuss the profound shift after Carter’s diagnosis and receiving the right treatment for MCAS: clearer thinking, emotional stability, and physical relief. Deeper than the physical symptoms, Carter speaks with wisdom about reclaiming selfhood and finding peace. He also reflects on discovering a community who understands him, and finding a purpose in advocacy.

Carter’s reflections on resilience, stigma in healthcare, identity, and hope are thoughtful and deeply human.

The song that he chose is Standing Outside the Fire by Garth Brooks.

Episode 81: Carter Hemion - EDS & MCAS

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 realities of Alagille syndrome, but also the invisible burdens placed on caregivers, particularly when support systems fall short. Roberta reflects on the life-changing impact of clinical trials, the complexities of liver transplantation, and the long road toward independence for a young adult living with a chronic illness. Throughout, there is a quiet but powerful thread of hope, grounded in medical progress, community, and the small, human moments that sustain families through unimaginable challenges.

The song Roberta chose is Here Comes The Sun by the Beatles.

Episode 80: Roberta Smith - Alagille Syndrome

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.