A Misprint in the Blueprint

August 16, 2012 § Leave a comment

a genetic mishap

Strange to think a slip-up in the language of my chromosomes would so harmfully influence the constellations of my fate. Fascinating to think that by taking samples of my blood, geneticists could have spotted such a mutation, unstringing my DNA to lay it out like a long poem to scan with the eyes of a meticulous proof-reader. And what did they see? A lack of rhyme. A devious line break. A mistaken letter. A faux pas. “Oops! Look what the gods overlooked!”  I wonder who the editor in the sky was so long ago in my lineage to have made such a fatal error. Maybe he was far-sighted or just too tired and overworked to see the misprint.

Today upon returning to England, I received a letter from the geneticist informing me the results of the tests I had done months ago.  As it turns out, I’m carrying a disease causing alteration in the BRCA2  protein, which is part of a tumour suppressor gene family that helps repair in chromosomal damage.  Along with BRCA1, BRCA2 plays a role in maintaining the stability of the human genome and prevents dangerous gene alterations that can lead to breast, ovarian and other types of cancer. As the letter tells me, it’s like a ‘spelling mistake’ in my DNA.

Unfortunately, while it’s a relief to know the reason behind my cancer, the news is generally distressing. Less than 10% of cancers are genetic. The presence of this alteration increases significantly my chances of developing another breast cancer, ovarian cancer as well as a string of other cancers.  It means the alteration likely runs in the family, feasibly caused my mother’s terminal illness, could potentially lie latent in the genetic code of my brother, my cousins, my uncles, all their children and may be passed onto future generations. The knowledge that I am carrying this alteration does relieve me of the sense that some lack of attention on my part caused my cancer. I did all I could to stay healthy, cancer-aware and cancer-free. And whilst I do carry this genetic faux pas, if I avoid as much as possible all the environmental and emotional influences of cancer, I can still live a long healthy life. The knowledge has increased my motivation to learn more about the disease, how it can be prevented and keep on track with my anti-cancer regime.


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