Saturday, 15 September 2007

THE WHOLE POINT - A DESCRIPTION

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 and clock the links i have displayed on the right.

4 comments:

FXSmom said...

Sian is gorgeous!!

Not to rain on your parade (cuz I love your parade..and cause!) but... Females actually have two X chromosomes and males have the X and the Y. What is said is that because the girls have two X's they have a good one to help support the bad one. Since the boys have an X and a Y they are just out of luck cuz they have no support.

I have a girl with it too so I know you mean about it being bologna. It can't be grouped like that because my girl isn't as bad as Sian but she is pretty close.

siggsi said...

fxsmom..... thank you for the corrective point, a bad eroro on my part..... i got tangled up in all the chemistry that i confused the main point..... i have corrected it now and in that understand a whole lot better... thanks very much for your kind words.... i hope together, and with all the other people doing something , we can make the difference needed... top blog by the way, its a real pleasure to read... simon

SB said...

another FX mom checking in here. I, too, have a daughter, whose affect is quite mild (unless you open a math book!)
I was captiated by your pictures from Alaska....We used to live there and will be moving back in a few years. Man, your pictures made me so homesick.

:)

siggsi said...

hello another fx mom........ happy that you like the pictures mate.... alaska holds a real magic to me aswell, i will always visit its vastness & incredible beauty... i alwasys get the sensation up there that im on the real edge of the world, in an unspoiled place that nature rules..... a brilliant place for kids to grow up in...... superb to see that you are moving back up there... :)