Our amazing four year old, Alfie, was diagnosed with MECP2 duplication syndrome after four years of tests. He can not walk or talk, suffers from chronic chest infections, pneumonia, constipation and reflux. He has severe learning difficulties and a high pain threshold, but he is the most loving, happy little boy who amazes me everyday. He never moans and is always smiling. He loves life and fun.

We knew very early on that something was not right, but it took four years to get a diagnosis. This was when our worst fears were confirmed: Alfie had a condition that meant he would never walk or talk and would reduce his life expectancy. Alfie inherited his condition from me, as I am a carrier of MECP2 duplication, but as it is a X-linked chromosome disorder, I am symptomatic.

Having a child like Alfie has taught me to be a better person. He brings love on so many levels to our entire family, and we have embraced the child he is. Alfie has a big brother, Cameron, who is fantastic with him, and they love each other dearly. Cameron gets the biggest smiles from Alfie.

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