Bethany

Bethany was born in February 2004, weighing 5lb 11oz — small but within normal range. At her 9-month check in November 2004, doctors identified developmental delay. Her parents underwent years of testing and uncertainty, during which they conceived a second child, George. After twelve years without a diagnosis and numerous consultations with specialists at Great Ormond Street, Bethany received her CASK gene mutation diagnosis at age twelve in March 2016.

The diagnosis explained her microcephaly and severe developmental delays. Her father describes the relief: "the weight that fell from our shoulders that day." Learning about the condition online, he found other CASK families through Facebook and built meaningful friendships within the community.

Now nearly eighteen, Bethany cannot sit unaided, walk, talk, or feed herself. However, her father emphasizes that despite missing a significant portion of her cerebellum, "what she can do" is remarkable. She communicates emotions clearly through sounds and enjoys music, lights, and people interaction. Her genuine smile "literally lights up a room."