Sorel Sofia Kolendrianos: I was so worried......

Sorel is such an extraordinary little girl, she is the most amazing thing in our whole lives, she is what we wake up for and fall asleep thinking about. She has a smile that can melt the coldest of glaciers, eyes that can see the oldest of souls and laughter that is more beautiful in song than a Beethoven symphony. She is the sweetest of souls the love of our lives. I am so grateful for her, for her constant inspiration, for the strength in her legs that pushes her everyday, for her voice that once made words but hasn't forgotten, for the way she looks at me and all I see is a light that fills the whole room, a flood of love that pours from her heart and lifts me up.....yes SHE lifts ME up! Amazing!

I will never take for granted the smallest of joys that come from this path we walk with our daughter. We love you Sorel!

What is Rett Syndrome?

Rett Syndrome (RS) is a unique neurodevelopmental disorder which begins to show its affects in infancy or early childhood. It is seen almost exclusively in females, although it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world.

What causes Rett syndrome?

Rett syndrome is caused by a mutation in the MECP2 gene on the X chromosome. The MECP2 gene is responsible for turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally. So, RS is a genetic disorder of developmental arrest or failure of brain maturation. This is thought to occur when subsets of neurons and their connections (synapses) are disrupted during a very dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development.

Sorel Sofia Kolendrianos

Tuesday, April 12, 2011

I was so worried......

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