Helping to improve understanding and earlier diagnosis through lived experience Families affected by Niemann-Pick often experience a long and complex journey before receiving a diagnosis. Understanding these rea-life experiences is key to improving awareness and supporting earlier diagnosis in the future. My Rare Journey is a platform created by OpalMedica to collect diagnostic stories from […]
We want to say a heartfelt thank you to Dave Smith for all of his support for Niemann-Pick UK, enjoy your well-deserved retirement. The entire Staff and Board of Niemann-Pick UK (NPUK) want to express our sincere gratitude to the wonderful Dave Smith, former Research Assistant at the Department of Pharmacology (University of Oxford), for […]
A Legacy of Love and Fundraising Every year, a group of golfers gather for a day filled with swings, smiles, and a shared purpose that goes beyond the fairways. The Annual Niemann-Pick UK (NPUK) Golf Day, organised by Craig Mathieson, is more than just a sporting event—it’s a heartfelt tribute to his niece, Lucy Mathieson, […]
Without Xenpozyme, Caitlin Monachan’s rare genetic disorder may kill her. But she must wait for the medication to be approved in the UK Early last year, 26-year-old Caitlin Monachan received a devastating diagnosis. She has Niemann-Pick disease, an ultra-rare genetic disorder caused by a missing enzyme, where toxic material builds up in the body, fatally damaging the lungs, liver […]
