Episode 87: Carolina Sommer - Pfeiffer Syndrome

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.