Olivia

At approximately 6 months old, Olivia's parents recognized developmental concerns. Health visitors dismissed their worries as parental anxiety. By 12 months, Olivia couldn't sit independently while peers were crawling and walking. After seeking private evaluation and full genetic sequencing, she received her CASK diagnosis near age three.

The diagnosis came via phone call followed by a neurologist consultation where the doctor relied on Google searches, revealing only 56 global cases with Olivia as the sixth in the UK. He offered no answers and essentially ended the appointment, leaving her mother devastated.

Online research connected the family with another CASK family nearby, leading to the Facebook support group. Olivia now attends an outstanding special school. The family has navigated complex bureaucratic systems for help and services while managing years of severe sleep disturbance. Despite bleak scientific literature, Olivia is a "wonderful, cheery, happy, music-loving, water-splashing, giggly ray of sunshine."