Annie is aged eight with a CASK gene mutation. Annie was 6 months old when she was diagnosed with pontocerebellar hypoplasia and 16 months old when she was diagnosed with a CASK mutation. Whilst I was pregnant we were under foetal medicine as Annie was “small for dates” and then IUGR. She was induced early at 36+3 week gestation and in neonatal care was noted to have a small head circumference and she failed her newborn hearing test. She was diagnosed with sensori neural hearing loss and wore hearing aids from 10 weeks age. Seizures started at 4 months old.
Annie is funny, determined, courageous and very sociable. She brings so much joy to our lives. She is able to sit, crawl and is starting to take a few independent steps. She is able to communicate by smiling, laughing, wriggling, shouting, crying and sometimes offering us simple objects (the TV remote is a perennial favourite!). On a good vision day she can sometimes make simple choices.
The early years were really difficult, finding more and more things “wrong” with our little girl and realising our future was going to be very different from what we had planned. Each year the list of consultants involved in her care grows (currently 7!) and we are always sleep deprived!!
When Annie was diagnosed the only information we received was a newspaper link to a story about another girl in the UK with CASK mutation. A facebook CASK group has been a great way of sharing information with other families but actually to have a research foundation may enable new therapies and treatments in the future to improve our children’s quality of life. Having a child with CASK isn’t all bad. Being linked with other families who have children with additional needs has been good and we now have a very different perspective on life, finding joy in the small things.
Finding the right educational setting has been essential for us. Annie is deaf/blind (multisensory impaired) and attends a specialist MSI Unit where she receives one to one support at all times with skilled, caring teachers and TAs who know her completely.
My advice for parents who have recently received a diagnosis is try to learn to accept your child for who they are, and to help them be all that they can be rather than what you’d dreamed of them being. This was one of the hardest lessons for us, but once we’d reached that point we were able to help Annie enjoy life so much more. Finding the right professionals / charities to enable them to live their best life possible and give you the chance to have some time with your other children. We have received brilliant support and advice from the charity SENSE and our local children’s hospice / respite unit.