The Whole Point - A Description

Published: 15th September 2007

Author: Simon Siggs

Heres a photo of sian & her uncle me. Sian is 14 years old. She is a beautiful, affectionate, inquisitive, spontaneous, sunshine summer days bringing member of my family, with the natural ability to have me mesmerized for hours, sometimes leaving me with the feeling that my ribs are slowly squeezing my heart dry, not to mention an incredible high speed knack for completing jigsaw puzzles. My sister susans child. She has the full affects of fragile X Syndrome.

Sian was developing as any other baby would be until she was 20 months old, when Susan started to notice her attention span was leaving and her developed skills were disappearing. The Doctors who studied Sian, at first thought she was showing signs of autism, but then at the age of 3 and a half she was diagnosed with Fragile X Syndrome. We all thought out loudly " Fragile whattttt !?" , as does everyone i meet.

Fragile X Syndrome is an inherited cause of mental disability. Us Humans have chromosomes, 2 of which are sex chromosomes. in males these chromosomes are X and Y, in females X and X. Chromosomes are bundles of genes that are passed down through family generations. The Fragile X gene is called FMR1. Fragile X attacks the X choromsome, which over generations mutates, so the cycle of DNA in genes , grows, making the mutation unstable leading to full fragile X syndrome. Because females have X and X chromosomes and males X and Y, it has been said that if females have one "fragile" X she also has a "good" one, which can compensate for the fragile one, so probably will not suffer the full effects of fragile X . This is not the case with our Sian, she has FULL fragile X syndrome, she is seriously mentaly disabled.

For a full understanding and furthur information please click http://fragilexpedition.blogspot.com/