Living with NKH: Isla's Fight Against a Rare Genetic Disorder скачать в хорошем качестве

Living with NKH: Isla's Fight Against a Rare Genetic Disorder

After a wonderful pregnancy, Sarah Steel gave birth to her daughter Isla in September 2018. However, things took a turn for the worse and sadly just a few weeks later Isla was diagnosed with Non-Ketotic Hyperglycinemia (NKH). This is a rare, genetic, metabolic disorder caused by a gene defect affecting the enzyme system that breaks down the amino acid glycine. Only around 500 people are living with the disorder worldwide, and due to its rarity, the NHS is unable to provide the level and amount of support that kids like Isla need. There is no cure and many children don’t make it past three months old. Against all odds, Isla is now six years old and thriving. Since her diagnosis, her devoted Mum Sarah has set up the Isla Rose Foundation - a fantastic, small charity that raises funds for Isla and the care she needs, as well as supporting other children affected by NKH. 💛 If you would like to support Sarah’s incredible work, please visit her website to find out more! https://islarosefoundation.com/ #SDG10 #ReducedInequalities