We received Christopher’s diagnosis of Pitt-Hopkins Syndrome. in October 2007, weeks before his 16th birthday. We had known Christopher had hypoplasia of the Corpus Callosum from an MRI at 34 months old. He has a mutation of one of his 2 TCF4 genes on exon 17.
Christopher was born by elective Caesarean on November 8th 1991 as, like his brothers, Andrew and Nathan, he was breech. Every midwife in the hospital visited him to admire his beautiful silver grey hair .He weighed 3175g (7lb) and although he often fell asleep when put to the breast , regained his birthweight by a week. He was a very efficient nurser.
The first year was spent worrying about Christopher’s slow development. He did not smile till 12 weeks, did not roll, reach out, or cry when he woke up. At a year he had to be supported with both arms as he had no trunk control, nonetheless doctors, both in the UK and in Germany where we were living, told us he was a heavy, lazy baby! At 10 months we were informed by a paediatrician in the UK that we had 2 fine healthy sons and stop worrying. Two months later we were told Christopher may never walk or talk, we would have to wait and see. He had central hypotonia and psycho-motor delay.
We did intensive home therapy: Christopher learnt to roll at 16 months , to balance sit at 2 , get to sitting at 2 1⁄2 . He learnt to crawl when he was 4 years 9 months and did this for a few years until learning to bottom shuffle. He walked at 9 years. Christopher can get to standing from sitting on a chair and can pull to standing if motivated. We are working on helping getting to standing on his own from the floor when there is nothing to pull up on. He is now climbing stairs quite confidently and descending too.
Christopher is nonverbal but he has been known to say words. Once at school in the UK aged almost 10 he repeated different words that were said to him. 2 days later he answered a question but other than an odd couple of times when, we and others, have heard him say banana (his favourite food) he has remained nonverbal. He can be very vocal sometimes and it’s lovely to hear his voice. He is a very friendly young man and will seek out other people. He greets people he knows when they are near him with a broad smile and if they are very special with a nose rub.
Christopher is a very happy young man and loves to be with others of his age. He has finished school now and attends a young people’s daycare centre in the village where we live. As far as we understand it’s the first of it’s kind in the Netherlands where we live.