Sacha's Story
Sacha was born at the Royal Sussex County Hospital in Brighton, UK at 5.40 a.m. on Tuesday 19th September 2000. We had a forceps delivery after an 8 hour labour (I'm not that good at pushing!!). Sacha weighed 7lb 4ozs and was perfect in every way. Just like every parent expects their child to be. For the first three years and three months of her life Sacha developed at the same rate as any other three year old. She could walk, sing, speak, count, jump, splash in the bath, go to mainstream nursery, hug, laugh, drink from a bottle or a cup, feed herself and was almost fully potty trained.
All of that changed after one night in December 2003 when Sacha woke up having a convulsion. Her eyes were rolling and she had a very high temperature. At the hospital we were informed that she had a Febrile Convulsion which was a common occurence in children with high temperatures. It's the body's natural defense - we were told. These seizures continued in frequency and violence over the next few months and Sacha had many trips back and forth to hospital to try and find out what was going wrong. It was during these months that we began to notice that her speech was very slowly deteriorating along with her cognition. She was not responding to simple commands like she used to. In May 2004, Sacha was admitted to hospital for two weeks after a series of violent, epileptic type seizures. She had fallen down the stairs on one occasion, collapsed like a sack of cards and smashed her head against the living room wall on another and fallen off a climbing frame on yet another!! Something was badly wrong with our girl. At this time, Sacha was diagnosed with epilepsy. At one time our doctors thought she had Lennox-Gastaut Syndrome (which is possibly the worst type of epilepsy out there).
In the months that followed Sacha's seizure types changed, her medications increased and she began to lose all of those abilities that as a baby and a young child, she had worked so hard to achieve! She went back into nappies, she started losing control of her fine and gross motor skills, she stopped understanding what was being said to her, she didn't sing anymore or count. Instead of hugging us, we were physically pushed away. She couldn't drink from a cup any more and lost the ability to hold a spoon or fork so could no longer feed herself. Our little Sacha wasn't the same any longer.
As our consultants realised that Sacha's 'epilepsy' was not really responding to comventional anti-epilepsy drugs (AED's), they began to search for other explanations. What else could it be? In January 2005, Neil (Sacha's father) and I heard the words 'BATTENS DISEASE' for the first time ever. Our doctors though this might be a possibility. We shrugged this off almost immediately as the thought of Sacha having a fatal illness was almost laughable to us. No way. After a series of inconclusive blood tests, Sacha had a skin biopsy in the summer of 2005 and on 7th July 2005 our Consultant in London informed me by telephone (she didn't want to tell me but I forced her to) that it was almost certain that Sacha had Late Infantile Batten Disease. Her results were officially diagnosed on 10th August 2006. Our worlds came crashing down!!
So many people have offered time and energy to support Sacha we have made a 'big' thank you page. Do tell us if we have missed you off the list!