Sonja: Advocacy, Intuition, High Risk Pregnancy and the Incredible Fight to Change Her Son's Future, Once Defined by Cystic Fibrosis

Send us Fan MailWhen an ultrasound technician uttered the words "his neck is sick" during a routine 12-week scan, Sonia's world tilted on its axis. What should have been a joyful glimpse at her second baby instead launched her family into a medical odyssey that would test their resilience, challenge their beliefs, and ultimately change the landscape of treatment for an incurable disease.Sonia's story isn't just about giving birth in Switzerland (she gave birth at HUG in Geneva)—it's about the extraordinary measures a mother will take when faced with a devastating diagnosis. At 22 weeks pregnant, after a high nuchal translucency measurement led to deeper genetic testing (the story to get there is incredible in it's own), Sonia learned her unborn son had cystic fibrosis. With her first child just 10 months old and no family history of CF, the news was shattering. Faced with the impossible choice between termination and continuing a pregnancy that promised hardship, Sonia did what few would have the courage to do—she questioned everything.What follows is nothing short of remarkable. Through relentless research, Sonia discovered Trikafta, an expensive, unapproved treatment that might help her son even before birth. She connected with researchers worldwide, joined tiny online support groups, and eventually sourced the medication through a CF patient halfway across the globe. Becoming only the eighth woman worldwide known to take this medication during pregnancy, she watched in awe as her son's previously invisible gallbladder appeared on ultrasound three weeks later—proof the medicine was working.Despite placenta previa, multiple hospitalizations, and an emergency C-section at 35 weeks, Seth was born fighting. Though separated from him for twelve agonizing hours after birth (prompting a fierce confrontation where she told hospital staff "I am fucking going now"), Sonia's determination never wavered. Today at 20 months old, Seth exhibits none of the devastating symptoms typically associated with CF—no digestive issues, no lung problems, and remarkably, he'll be fertile, something previously impossible for males with CF.This extraordinary journey showcases the power of maternal intuition, medical advocacy, and the courage to challenge established protocols. Through sharing her experience, Sonia has helped approximately 30 other babies worldwide access life-changing treatment. Her message is clear: trust your instincts, do your research, and never stop fighting for your child's future.Cystic fibrosis, or CF, is a rare inherited disease that affects about 1 in 3,300 newborns in Switzerland - around 1,000 people nationwide and more than 105,000 worldwide.CF makes mucus, sweat and digestive fluids thick and sticky, clogging vital organs like the lungs and pancreas.Once a childhood killer, CF is now a condition where many children born today are expected to live into their 60s. New treatments may push life expectancy even further and research continues to work towards a hopeful cure.Read more about Seth's story: https://www.instagram.com/cf_mama_on_trikafta/Subscribe for more Swiss Birth Stories, Write a review, and share this podcast to help more parents in Switzerland and beyond find the show.@swissbirthstories@lilybeezurich@juliathedoula.chwww.juliathedoula.chwww.lilybee.chwww.swissbirthstories.comJoin us on PatreonorSupport the showPlease connect with us:Click here to share your story and be our next guest!Check out Julia's upcoming coursesCheck out Christine's doula servicesLilybee's store with pregnancy, birth and postpartum essentialsAll Swiss Birth Stories Episodes