# Episode 51: A Baby with PKU, with Stephanie Marzan Page: https://stenobird.com/podcast/born-on-the-rock-gibraltar-birth-stories-7113173/episode-51-a-baby-with-pku-with-stephanie-marzan Text version: https://stenobird.com/podcast/born-on-the-rock-gibraltar-birth-stories-7113173/episode-51-a-baby-with-pku-with-stephanie-marzan.md Podcast: [Born on The Rock: Gibraltar Birth Stories](https://stenobird.com/podcast/born-on-the-rock-gibraltar-birth-stories-7113173) Published: 2026-03-19T12:00:00+00:00 Episode link: https://shows.acast.com/born-on-the-rock-gibraltar-birth-stories/episodes/69b90dc6a28dd9d562dd4b49 Audio file: https://sphinx.acast.com/p/open/s/67448343507c8fc412e7b32b/e/69b90dc6a28dd9d562dd4b49/media.mp3 Processing state: not_requested JSON: https://stenobird.com/v1/public/podcasts/born-on-the-rock-gibraltar-birth-stories-7113173/episodes/episode-51-a-baby-with-pku-with-stephanie-marzan Duration seconds: 5830 ## Resource KEY TOPICS: 2 births, natural delivery, phenylketonuria (PKU), genetics, pandemic Welcome to an educational episode with mum of two, Stephanie Marzan. She describes parenting a child with PKU - a rare metabolic disorder affecting just 1 in 15,000 babies, where too much protein can lead to irreversible brain damage. Stephanie became pregnant easily and had a good pregnancy in 2017. She was induced and had a long labour, before their daughter arrived safely at almost 42 weeks - however, just days later the couple received a call to say their baby's heel-prick test result showed a serious issue. More blood tests followed over several weeks, with an emergency trip to Evelina Children's Hospital, before they finally received a diagnosis of phenylketonuria (PKU).  Stephanie explains the complex steps she faces daily, to keep her daughter on a strict diet of low phenylalanine - an amino acid commonly found in high protein foods and artificial sweetener. Weaning required training by a dietician, and Stephanie became an expert at reading food labels, navigating party bags and restaurants - even carrying scales in her bag to measure food. The pandemic made things harder for the family to source foods, leading to costly bulk shipments. We discuss the impact on family life and work, and how Stephanie successfully lobbied local medical authorities to get a specialist medication made available in Gibraltar 💪 And then: another pregnancy! This journey in 2021 was trickier with pain and weekly monitoring through the third trimester, before another induction and natural delivery. The heel-prick test for their second daughter was clear; an experience most new parents take for granted. We discuss how their younger daughter understands PKU dietary&nb… ## Actions - request_transcript: `POST https://stenobird.com/v1/public/podcasts/born-on-the-rock-gibraltar-birth-stories-7113173/episodes/episode-51-a-baby-with-pku-with-stephanie-marzan/transcription-requests` — Idempotently request low-priority transcript generation for this episode. - read_markdown: `GET https://stenobird.com/podcast/born-on-the-rock-gibraltar-birth-stories-7113173/episode-51-a-baby-with-pku-with-stephanie-marzan.md` — Read the agent-friendly Markdown representation of this episode resource. A page view does not enqueue transcription. Agents should invoke `request_transcript` explicitly when they need this episode processed. ## Transcript Full transcripts are not published on public pages unless there is a clear rights basis.