After many years of trying for a child, their family was now complete. Their dream was shattered just three days before Jon's 4th birthday by the devastating news that he had been diagnosed with Sanfilippo Syndrome. Sanfilippo Syndrome is an incurable metabolic disorder passed down through families. The condition, which affects about 1 in 85000 people in the UK, blocks the breakdown of complex sug
ars in the body, causing them to build up and destroy brain cells, leaving children unable to walk, talk or swallow. As the condition is terminal, Lorraine & Steve have been told by Great Ormond Street Hospital that Jon is very unlikely to reach his teenage years. Jon also has Kleinfelter Syndrome which in itself is a less serious condition, but still comes with its own set of problems to overcome. As you can imagine Lorraine & Steve are both heartbroken at the thought of losing their beautiful little boy. Jon has always been a happy and cheerful little soul with a wonderful sense of humour, but as the disease has progressed this has begun to change. During a recent GOSH assessment it was confirmed that Jon had in fact suffered a part seizure back in April this year which has left him unable to speak or sleep, and quite often he will now get anxious and look lost. Thanks to the amazing generosity of family, friends and local people from their hometown of Ringwood, Jon and his family were able to fly to France in June this year to spend 5 magical days at Disneyland Paris. Jon had a fantastic time whilst there and the staff were wonderful, which enabled Lorraine & Steve to also enjoy the much needed break. Their enduring memory of the trip will always be Jon's smile when he met Mickey, Goofy and the other Disney characters. As Jon's condition deteriorates, his mobility will diminish until it is no longer possible for him to move unaided. Constant fundraising for the additional equipment required for this eventuality is ongoing, but while he still has some mobility of his own, additional funds are being sought to send Jon and his parents for a break to the Mediterranean so Jon can have the chance to swim with dolphins, and Lorraine & Steve can make some memories with their precious little boy.
