When I was 19 weeks pregnant a routine scan showed Michael had a diaphragmatic hernia. We decided not to have any further tests done. Michael was born full term , normal delivery , at St Mary's Hospital in Manchester on the 2 Dec 1994, and was immediately put on a life support machine and paralysed so as not to fight against the ventilator. The operation to repair the hernia was done at 3 days old (terrible time for us) and initially seemed successful. The doctors told us his lung capacity would always be about 50% but he should have a fairly normal life.
He came through the op. and slowly needed less and less oxygen but came to the point where he still needed some and progressed no further. During this time his breathing would simply stop and needed swift help from the wonderful nursing staff. Michaels doctor was puzzled at this as his recovery seemed inhibited by something else not immediately apparent. During the many tests a skin biopsy was taken and the geneticists discovered Michael had this very rare and little understood condition Pallister-Killian syndrome. It seemed a little strange but we were relieved in one sense because now we understood why his recovery was slow. Michael was well enough to come home after 4 months in hospital, still on oxygen, which he needed continually until he was 2 yrs old. He now only needs it when ill.
Michael is almost 9 now and attends a special school , who are wonderful with him. We have been very lucky living in Stockport (England) everybody whose involved with Michael (that's a lot of people!) are superb. He started receiving educational help with portage from a very early age. Portage is a home based teaching system founded in America and is second to none.
The picture shows Michael having Christmas dinner 2002.
As far as the effects of the syndrome on Michael go, he cannot walk or talk, communicates in his own way, usually successfully; he is a happy pleasant boy and has an infectious giggle. His hearing is slightly impaired as is his sight and he wears glasses. Michael has epilepsy which we are still trying to get under better control, but this only bothers Michael if the fit wakes him up, once he has been reassured he just gets on with it.
We were very excited to have found this site and have already found it useful, and hope our brief introduction to Michael is of benefit to other people reading about Pallister-Killian.
Last update: 04 December 2003