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Sunday, 7 June 2015

Rare Chromosome Disorder Awareness Week



I am here today to raise awareness concerning a very under-researched area of Human Science. Chromosomal Disorders!
  • 1 in 200 babies are born with a chromosomal disorder and each one is Unique. 
  • These disorders can be detected before birth through amniocenteses and other tests or after (often noticed in a delay in childhood development) but many go-undiagnosed. 
  • A chromosomal disorder is when someone may carry extra, missing or re-arranged chromosomes in their DNA make-up.

Now for the Science bit!
 
Chromosomes are found in the nucleus of our cells.  They are made up of protein and DNA:  the recipe of specific instructions that make each of us who we are.

The average person has 23 pairs of Chromosomes. We inherit 23 from our mother and 23 from our father. One of these pairs is the X and Y 'sex chromosomes' determining our gender.

Cells must divide to produce new cells to replace the old cells. Remember learning about Meiosis and Mitosis at school? (no, neither do I!)

Chromosomal disorders can occur through cell division processes: when pieces of chromosome may be missing 'deletion', 'duplicated', broken off and added elsewhere ('translocation') or an extra chromosome is added 'trisomy' or 'monosomy'.
Turner Syndrome Girl- deletion of X

Down Syndrome Girl
An extra Chromosome 21



















Here is a list of more Chromosome Disorders.
Often unheard of! 

So how does this all translate to the individual?

Everyone who has a chromosomal disorder is unique and the result of all these chromosomal differences will produce a different result (called Syndromes).

You may be born with it, there is no cure. It is not a disease. 
              It is merely about how you manage your life around it. 

Many Chromosomal Disorders affect childhood development with low muscle tone and bone growth. They may cause under-lying physical and/or mental health issues. Some result in physical characteristics: Wolf-Hirschhorn, Downs and Fragile X syndromes (to name a few). 



However there are many disorders that are 'invisible' with no apparent physical characteristics instead more apparent in developmental delay, height, and health. And as a result may be under-diagnosed and lacking in research:

One in particular is Trisomy X Syndrome or Triple X Syndrome. Affecting 1 in 1,000 girls this Chromosome Disorder occurs when there is an Extra X Chromosome resulting in a 47,XXX karyotype- could say they're X-rated! ;) Girls with this syndrome are often tall in stature, have low muscle tone, speech and language difficulties and developmental delay.


The lack of research means that those affected are not given the much-needed Support. 
This is a the key factor for those living with these conditions. Support is vital for these individuals to blossom at their own pace and to be given equal opportunities in life; to not be judged on appearance or capabilities. Support from family, support from friends, support from school and above all- support from medical professionals who often have no clue of these disorders is crucial!




~What can I do? ~

Donate: here to Unique: The Rare Chromosome Disorder Support Group

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