We received Christopher’s diagnosis of Pitt-Hopkins on Monday 28th October 2007, almost two weeks before his 16th birthday. It was a total surprise as we were not aware that he was being tested. Up to this point, all we knew was that Christopher has hypoplasia of the Corpus Callosum which we discovered by MRI when he was 34 months old.We were not able to meet with the doctors till January and meanwhile we tried to find out anything we could about PTHS. We searched a few internet sites for rare syndromes and different organisations who try to connect families but some of them had not even heard of PTHS. We were advised to try and find families ourselves. A few days after we posted on the NORD site we heard from Olivia’s mother!
Christopher was born by elective Caesarean Section on November 8th 1991 as , like his other brothers, Andrew and Nathan, he was breech. He was born at 37 weeks as the consultant did not want the pregnancy to go further than that due to bleeding at 24 and 33 weeks (also at 8weeks) he thought the bleeding was caused by a circumveliate placenta which proved to be the case. Every midwife in the hospital came to see him over the next few days to admire his beautiful silver grey hair. They said they’d never seen a baby with such a lovely colour of hair.(We often later wondered if this was an indication of something lacking in his metabolism) He weighed 3175g (7lb) and although he seemed to fall asleep as soon as he was put to the breast , he still regained his birthweight by a week. He was a very efficient nurser.
We spent the first year worrying about Christopher’s slow development. He did not smile till 12 weeks , did not roll or reach out, or cry when he woke up. He had to be supported with both arms when carried as he had no trunk control , but even so doctors, both in the UK and in Germany where we lived at the time ,told us there was nothing wrong. At 10 months I was told by a paediatrician in the UK that we had 2 fine healthy sons and what were we worried about! Two months later we were told Christopher may never walk or talk , we would just have to wait and see. We were told he had central hypotonia and psycho-motor delay.
Christopher with daily physiotherapy learnt to roll at about 16 months. At 18 months we were able to attend a centre in the UK where we were given a programme of therapy that we were to do 4 times a day for 7 days a week. At about 2 he learnt to balance sit and at 2 and ½ he was able to get into the sitting position himself. He learnt to crawl when he was 4 years 9 months just a few months before Nathan was born. It was Andrew ,then 9 ,who ran to tell us. He crawled for a few years before he learnt to bottom shuffle , which is still the way he gets about mainly. He walked at 9 years ,weeks after the physiotherapist at the school upset his teacher (and then us) by saying he’d never walk. (We think Christopher was listening and thought I’ll show her! ) Friends and family are always telling us how much better his walking gets everytime they see him. Christopher can get to standing from sitting on an upright chair but we are still working on him getting to standing from the floor. He’s gradually getting stronger so we know he’ll master this one day.
Christopher is in nappies but at school and at home we try to” toilet time” him but we are making very slow progress.
Christopher is non verbal but he has been known to say words. In September 2001, when he was at school in the UK and nearly 10 on one afternoon he repeated different words and names that were said to him. 2 days later he answered a question at school but other than an old couple of times when , we and others , have heard him say banana (his favourite food) he has not said anything. He can be very vocal sometimes and it’s lovely to hear his voice but he doesn’t say any words.
Christopher is a very happy child and loves to be with other children. He greets people he knows when they are near him with a nose rub and wrapping his arms round their neck .
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