William was born on 15th Sept 2006, he had the initial diagnosis if dysmorphic features, hypotonia, submucosal cleft palate and was N.G fed due to a poor swallow. He spent his first 3 weeks in NNU, tests and investigations into his condition began.
During the early days test identified hearing and visual impairments, severe hypotonia, Laryngomalacia, undescended testicles, epilepsy and global development delay. Endless hospital reviews and therapies were part of everyday life.
William was finally diagnosed with pallister killian syndrome (PKS) aged 2 years 3 months. PKS is a rare chromosome disorder which results in an isochromosome (extra chromosome) of 12p. It was a relief to finally have a diagnosis.
William needs care 24/7, he endures so much daily yet he always has a smile to offer. He is a very happy, content little boy with a cheeky personality, we are very lucky to have him.
Thank you so much for the time and effort that has been put into the quilts. We are very grateful.