Andrew has Angelman Syndrome: My Nanny

Sunday, November 11, 2007

My Nanny

I forgot to tell my mummy when she was writing this to say how much i miss my nanny she was the best nenny ever i love her loads and miss her loads and so does my mummy and Darren and auntie Kimbie.
Just want to say we all love you very much nanny.
xxxxx
look at my pics u will see 1 of me and my nanny when i was just a little wee baby xxxxx

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What is Angelman Syndrome

A rare genetic/neurodevelopmantal disorder named after Dr.Harry Angelman,an English Paediatrician who first described the syndrome in 1965.
More commonly the cause is a deletion in the maternal chromosome 15 (70% of cases) but Angelman Syndrome can be caused by Paternal UPD (Uniparental disomy) (2-3%), UBE3A mutation (discovered in 1997) (5%),imprinting defects (2-5%). There can also be no known cause for Angelman Syndrome (20%). In some cases Angelman Syndrome can be hereditary. Angelman Syndrome affects both boys and girls.
A person with Angelman Syndrome has a normal life expectancy.