A decade later my chapter 'A Parent's Perspective' was published in the New England Journal of Medicine. Dr Samantha Knight, who was on the research team that discovered Chrissy's chromosome disorder, was editing the journal and, as you can imagine, it was a huge honour to be invited to contribute. The book, which was published in Feb 2010, had the fabulously un-pc title 'Genetics of Mental Retardation' (a term that is still used in the US) http://www.amazon.co.uk/Genetics-Mental-Retardation-Encompassing-Intellectual/dp/3805592809 My chapter encompasses Chrissy's life up to the age of 26, and lies behind reviews on the remarkable advances in modern technologies that have resulted in newly identified syndromes and the importance of genetics in learning disability. The best way I could think of to add my chapter was in a series of images that can be opened up and read individually. The 14 pages can be clicked on and scrolled through at the bottom of the screen.
In between the two books I also wrote a piece for the Daily Mail about the groundbreaking genetic breakthrough that ended our 22 year search for answers in 2006.
I support Unique http://www.rarechromo.co.uk/html/home.asp & I'm a SWAN (syndromes without a name) blogger
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