Imagine your newborn is fighting for her life, but no one can tell you what's wrong...
In this episode of Born For This Stories, Johanna and Peter sit down with Isabella, a mother from Brazil living in Switzerland, whose daughter Gabriella was born prematurely and later diagnosed with one of the rarest metabolic diseases in the world: Mevalonate Kinase Deficiency, also known as MKD.
What began as an unexpected early birth quickly became a terrifying medical journey through NICU transfers, language barriers, liver inflammation, unanswered questions, rare disease testing, and the emotional weight of hearing that your child may not survive. Isabella shares the early days of Gabriella's life, the signs that something was wrong, and what it felt like to be separated from her newborn while trying to understand a diagnosis with almost no roadmap.
This conversation explores rare disease parenting, medical uncertainty, newborn hospitalization, immune system dysfunction, genetic disorders, caregiver trauma, and what happens when parents become the research team because the answers are too rare to find easily.
If you are a medical parent navigating the unknown, waiting for answers, living through NICU trauma, or trying to advocate for a child with a rare diagnosis, this episode will remind you that you are not alone.
This is Part 1 of Isabella and Gabriella's story.
In this episode
– Isabella's unexpected premature birth story in Switzerland
– Navigating birth and NICU care while her husband was overseas
– The first signs that something was wrong with Gabriella's liver
– Being transferred to a larger hospital without clear answers
– What it feels like when your baby is sick and the diagnosis is still unknown
– Language barriers, cultural differences, and medical communication challenges
– Receiving a rare genetic diagnosis: mevalonate kinase deficiency, or MKD
– How MKD affects the immune system, inflammation, organs, and infection risk
– The emotional impact of hearing a devastating prognosis
– The isolation and fear of bringing home a medically fragile child
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If this episode met you where you are, don't keep it to yourself. Someone in your life is sitting in a waiting room right now, googling words she never wanted to learn. Send her this one. Share it to your story, text it to a friend, leave a review — every share puts this in front of one more mama who needs to hear she's not alone.
Know Someone With a Story to Tell?
We're always looking for parents willing to share their journey — the messy middle, not just the highlight reel. If you or someone you know has walked a path other medical mamas need to hear about, we'd love to have you on the show. Reach out at info@bornforthisstories.com and let's talk.
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