The story of Laura
In 2018 I learnt my then one year old daughter had a mutation in her CASK gene, which would cause her to need life-long care due to intellectual disability and medical complexities. The situation felt hopeless for several years and I focused on physical therapies to help her progress and fight against regression. In 2021 I was introduced to Giovi, a parent advocate in Australia who was successfully fundraising for research into the disease. Through her I realised that I shouldn’t sit back and accept our fate. I had a choice to fight back. In 2022 I created CASK Research UK and shortly after, an amazing CASK dad, Thierry, created Association Enfants CASK France. We quickly realised that working together was better than struggling alone. Through Giovi and Thierry I’ve found friendship and solidarity. Even though we’re all in different countries we have the same goal because of our children. We’ve found we can do so much more together and can relate to each other’s unpredictable homelives. We’ve also found raising awareness and funds is extremely difficult when you have populations of tens rather than hundreds in your countries. To help solve this Giovi and I joined forces to create a short film about our disease which is premiering on Rare Disease Day. We hope this not only raises awareness of CASK disorders but also the hidden lives of parent carers and the problems faced by ultra-rare diseases like ours.