The story of jayne
My son Sam was born in November 1986 with a long list of symptoms which singly weren’t that unusual but had never (as far as anyone was aware) been seen all together before.
These symptoms were – absent corpus callosum (centre part of the brain), exomphalos ( bowel and stomach on the outside of his body) , diaphragmatic hernia and associated lung and heart defects (due to some of his his bowel and stomach taking up space in the chest cavity and inhibiting development) iris coloboma, high myopia and profound deafness. As nobody had come across this before it was decided that it was a “congenital birth defect, that it was more than likely not degenerative and it was almost impossible that this would happen again….. how wrong they were!!
Sam recovered (against the odds) from initial surgery and was sent home. We were given no indication of the prognosis and in effect were left to “get on with it” – which is what we did. Sam was given glasses and hearing aids and then set about living life.
His development was delayed -which was not unexpected, but he was a very happy baby, toddler and child and loved beyond belief by his family.
A further pregnancy 3 years later and another baby (who sadly did not survive), with identical symptoms meant that this was unlikely to be a congenital defect and it was then that the research and investigations began with a vengeance.
The geneticist who saw Sam at St Mary’s hospital in Manchester in the hours, weeks, days and years following his birth was a lovely young woman called Doctor Dian Donnai. She and her colleague Margaret Barrow went on, through the work done largely with Sam to identify this “new” syndrome.
As Sam grew he had further problems with his eyes (detached retinas) which were almost certainly linked to the syndrome (flaws in the development of connective tissue). He also developed epilepsy and had significant kidney problems, which were not identified until he was in his early 20’s as he had not had any blood tests for many years.
Unfortunately Sam died in October last year – 3 weeks away from his 30th birthday due to kidney failure. He lived a life that most of us can only dream of and we are so proud that the work Professor Donnai did with our darling boy was instrumental in identifying Donnai-Barrow syndrome. Because of Sam, children who are identified as having the syndrome will receive the appropriate care and treatment.