Family Stories

Jorgi was born in October 2015, four weeks early due to IUGR, weighing 4lbs. She was born with bilateral talipes but appeared otherwise healthy. As she grew, her parents noticed vision problems and developmental delays. At 7 months, concerns about her vision and development were formally noted. After genetic testing proved inconclusive initially, she entered a study at Edinburgh University for small children and received an MRI.

At age two, Jorgi received her diagnosis of MICPCH caused by a CASK gene mutation. She progressed slowly but steadily through physiotherapy. At 2½ years old, she began crawling and sitting independently. She started nursery for children with learning disabilities at 3½ and has since begun primary school.

Though non-verbal and unable to walk independently, Jorgi communicates through sounds and gestures. Her parents note that progress happens "Jorgi's way or no way, and it is very much on Jorgi's terms." She is described as "the happiest little girl with the most infectious giggle."

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."

Sarah was born appearing healthy, but at her 6-week check, doctors found her fontanelle couldn't be felt. Initial CT scans were misinterpreted, but further testing revealed she had a small brain causing microcephaly. After MRI and genetic testing, Sarah received her PCH diagnosis from a CASK gene deletion at age one.

Sarah's mother found the Facebook support group invaluable, as medical professionals had limited knowledge about the condition and published research painted bleak pictures. She emphasizes that having a CASK daughter proved "anything other than depressing." Sarah's happiness, beauty, and wonderful laugh make it "impossible to feel sorry for yourself for any length of time."

The hardest aspects have involved seizures and sleep disturbance — Sarah experienced seizures nearly daily for nine months starting at 13 months old.

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."

Annie received her ponto cerebellar hypoplasia diagnosis at 6 months and her CASK mutation diagnosis at 16 months. During pregnancy, she was flagged as small for dates with intrauterine growth restriction. She was induced at 36+3 weeks, showed small head circumference at birth, failed her newborn hearing test, and developed seizures at 4 months old.

Annie is funny, determined, and sociable. She can sit, crawl, and is beginning to take independent steps. She communicates through smiling, laughing, vocalizing, and sometimes offering objects. The early years proved challenging as more issues emerged and family plans changed.

At diagnosis, the family received minimal information — only a newspaper article about another girl with CASK. A Facebook support group became their primary resource. Annie is now deaf-blind (multisensory impaired) and attends a specialist MSI Unit with one-to-one support. Her parents advise newly diagnosed families to accept their child for who they are and help them be all they can be, rather than mourning imagined futures.

Charlotte Edward, now 22, wasn't diagnosed until age ten. Early signs appeared at her 8-month check, though retrospectively her parents noted she didn't grasp objects at 6 months. Charlotte is happy and smiley, loves everyone, walks with support, drinks independently from a lidded beaker, sits unsupported, and is learning to feed herself and use switches for communication.

Portage and conductive education proved most beneficial. The family's greatest struggle involved obtaining respite care and appropriate education. Charlotte's younger sister, inspired by caregiving experiences, is now training to become a doctor. Her mother's advice emphasizes following every suggestion because outcomes remain unpredictable.