Ben was born on his due date 24th november 2000. Until he was two there were no big concerns for his development. At the age of two he started a nursery.
They said he seemed clumsy and his speech wasnÃ¢â‚¬â„¢t brilliant. We took him to our doctor, but the doctor wasnÃ¢â‚¬â„¢t interested and sent us away with "he is a boy, boys are lazy". We believed the doctor. Over the next three years Ben didnÃ¢â‚¬â„¢t catch up, he stumbled on his feet, he struggled to talk correctly, but still the doctor was not interested in our worries.
Then the day he started school came, all smartly dressed we took him to school. A week or two went by, Ben was enjoying school and we felt as if he was improving in his speech a little. Then one dreaded day the teacher pulled me to one side and explained all the things Ben was struggling in, My heart sank. We were right all along.
I went back to my GP and asked for a referral to a pediatrician. There was a long wait until we could be seen. So we were also referred to a local child development centre to be seen by an occupational therapist.
Six months later we saw a lovely lady called Narelle and her colleague, both OTs in our home, she said how she would play with Ben for a while and tell us if we needed any further appointments.
About two weeks later we had a letter from the CDC explaining how Benjamin was indeed having global problems and they would like him to remain on there list. At the same time we received a letter to see a pediatrician.
We went to the appointment at the hospital, armed with some info from the Internet on dyspraxia, as this really matched BenÃ¢â‚¬â„¢s symptoms. The pediatrician wasnÃ¢â‚¬â„¢t convinced and said Ben had global developmental delay, nothing moreÃ¢â‚¬Â¦ He would catch up with additional help.
So really we muddled along between paed and CDC seeing physios and O.Ts for a while. Many blood tests were done but all negative. Ben still puzzled them all though as although improving he was still getting more wobbly on his feet, and movements were unco-ordinated.
At the age of 6 Ben still had no idea how to hold a pencil and used a fist grip. Fine motor was very poor too. Speech had got better but Ben had began to repeat himself, asking the same questions over and over.
After intensive physio sessions, and extra sessions at school things started to go backwards.. The physio then decided that she no longer could help Ben as "he wasnÃ¢â‚¬â„¢t improving" so from then Ben had no physio sessions at all.
We all thought for a long while that Ben had ATAXIA = the paed brushed this off, he sent us for an MRI but this was clear "he has severe dyspraxia nothing more".. even though letters from the physio stated ataxic movement.
We fought for a helmet as he fell over so often, and some Piedro boots to help support his ankles and feet. We were now also needing a pushchair for those longer journeys, as Ben couldnÃ¢â‚¬â„¢t manage and tired so easily. This we had to fund ourselves.
School was difficultÃ¢â‚¬Â¦ We asked for assessments for a Statement of Special Needs, but in the time it took to get the truth from the Educational psychologist, by the time they gave him a statement, Ben became incontinent, and needed a walker, he had special seating in class and 1-1 help. But this meant we could finally move him to a special school.
He started his new school all was well, we could not fault them it was perfect for Ben. Then the dreaded phone call came "Ben's had some sort of seizure" Our hearts in our mouths we raced to school. Ben was dazed and sleepy.. a trip to hospital revealed nothing. He had two more prolonged absence type seizures and was put on some medication to control them.
We went back to the paed and begged once again to see a neurologist.. He gave in and referred us.
We saw the neuro he said "I have no doubt we will find a diagnosis". With in a few months we were in Bristol Children's Hospital having a batch of tests,. At the last moment an SHO decided Bens' spleen was largeÃ¢â‚¬Â¦ We will do a skin and muscle biopsy too.
Some weeks later we had a call from Ben neuro, "I have some results, we need to meet and discuss them". Our hearts in mouths we travelled to Bristol.
He sat us down "We have the results from Ben's skin biopsy -Niemann-pick type C". I questioned him, "How sure are you?"
"99.9 percent so. Mid to late teens is the prognosis" with that we left .. Numb, shocked, a bit of denialÃ¢â‚¬Â¦
So after our long fight for an answerÃ¢â‚¬Â¦ we had one.
Ben is a loving, happy, brave boy. He has the ability to captivate a room with his smile. He loves nothing more than his sisters playing games and making him laugh. He loves music and has a passion for Tom and Jerry cartoons. Even though he has had to cope with a lot of fast changes in his condition over the last year, that have left him without speech or mobility, he still manages to smile through the day.