Annie

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.