Annie’s syndrome

Sophie and Robin’s daughter Annie has a unique chromosome deletion on Chromosome 1, the upper arm. 25 vital genes are missing, out of the 22,000 that we should all have. To this day, she is still the only person in the world with this particular chromosome profile. To find out more about the science behind this syndrome, you can download an article here.

Annie’s details are registered with the excellent UNIQUE, a rare chromosome disorder support group. UNIQUE holds a global database on all known chromosome disorders. For more information, visit their website.

Sophie Dow, the founder of Salvesen Mindroom Centre, with her daughter Annie, both sitting on top of a picnic table smiling at each other as if in conversation

The journey

From Annie’s birth in 1990, Sophie and Robin waited until 2007 before the clinicians and scientists were able to make their discovery and provide an explanation of the cause of Annie’s learning difficulties.

The code for Annie’s array CGH analysis is: 46,XX,arr cgh 1p31.1->1p31.3 (RP4-759M20- >RP11-261J10) x 1

Sophie has written a much-celebrated book about the family’s journey called ‘When life doesn’t follow the script’.

It has been described as an inspirational and personal detective drama where Sophie – with humour, passion and the unexpected support of Hollywood as well as the British Royal family – poses the rightful question ‘Why aren’t all minds valued equally’.

The book is available in Sophie’s native Swedish and is currently being translated into English and French.

Get the book

Annie’s syndrome

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Annie’s syndrome

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