Olivia

At about 6 months old my husband and I realised that all was not entirely well with our little girl – Olivia wasn’t hitting the standard baby milestones that we had experienced with her sister, and something just wasn’t ‘right’. We took her to see the health visitor, but were basically dismissed as neurotic parents, were told that all children develop at different rates, and to come back in 6 months if we were still concerned. It took another six months of trying to be seen by various medical professionals before we were taken seriously, by which time it was absolutely evident to me from attending weekly mother & baby classes that it wasn’t just my neuroses – she was making no developmental progress and falling further and further behind all of her peers, who were sitting independently, crawling and then starting to walk when Olivia couldn’t even sit up by herself at 12 months. Having gained no traction with the NHS, we decided we had no choice but to take matters into our own hands and paid to see a paediatric neurologist and other specialists who made assessments and ran various tests. These all returned ‘normal’ results, which we found hugely comforting, but it was evident that unfortunately they just weren’t the right tests. Full genetic sequencing was going to be required to try to find a diagnosis and we were told it would be like looking for a single spelling mistake in War & Peace, and that it was possible no results would be found and she would be a SWAN (Syndrome Without A Name). After a huge amount of time, effort, blood tests, laboratories and generally chasing around a medical bureaucracy that was entirely new to myself and my husband, when Olivia was a few months shy of her third birthday, we were given the shattering CASK diagnosis over the phone by the geneticist, followed by a meeting with a different consultant neurologist who told us the bare facts of the diagnosis from his Google searches (no medical professional we have ever come across has seen CASK before), which were that there were 56 cases globally and we were number 6 in the UK, and that she would continue to fall further and further behind her peers; he didn’t have any answers to our questions, and basically invited us to leave his office. I cried from his office door all the way home in the car. What followed was an awful lot of Googling, and trying to understand complex medical papers on CASK. However, my internet searches quickly identified another CASK family within driving distance of our home, and from that hugely helpful initial conversation sat on the floor of their living room with a cup of tea, I found the Facebook CASK support group and a network of virtual friends who share a child with this extraordinarily rare condition. I have spent much of the last four years since diagnosis navigating the byzantine systems that surround the processes of obtaining help, allowances, therapies, services, and blue badges, and have filled out more forms than I ever thought possible. I had no previous knowledge or experience of the ‘special needs’ world, and it is a complex and difficult one, emotionally, financially and practically, to grapple with. It is a constant battle to find out what help exists and how I can make my daughter’s life better and easier, and support Olivia to achieve whatever her potential may be. We have come across some excellent professionals on our journey, and also some truly useless ones. We have been fortunate in that Olivia attends an outstanding Special School, with teachers, teaching assistants, therapists and leadership that truly care about the children and work hard every day to make their lives fuller and happier. We have experienced some truly tough times, some of which were down to years of appalling ‘sleep disturbance’, which seems to be a common feature of CASK, and sounds quite mild, but it is not; thankfully Olivia’s sleep has improved over time. A lot of the scientific papers on CASK make for pretty bleak reading and sometimes the fact that CASK has significantly impacted every area of my daughter’s life can feel somewhat overwhelming. But Olivia is a wonderful, cheery, happy, music-loving, water-splashing, giggly ray of sunshine, who adores her sisters and is so loved by all her family. No-one knows what the future will hold, and every CASK child is different, but this website and this community of CASK families will be a hugely valuable resource to those that need it.