Episode 51: A Baby with PKU, with Stephanie Marzan

KEY TOPICS: 2 births, natural delivery, phenylketonuria (PKU), genetics, pandemicWelcome 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 restrictions, the difficulty in planning logistics around hobbies, plus the vital role of support from family and friends. It's an honest and powerful story of true parental devotion - thank you Stephanie for bravely sharing your two Gibraltar birth stories (Recorded January 2026).Disclaimer: views expressed in podcast episodes are those of guests, and do not reflect the views of GBC.Find 'Born on the Rock: Gibraltar Birth Stories' on Facebook and Instagram for more Hosted on Acast. See acast.com/privacy for more information.