May 102011
 
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Just over five years ago my dad was diagnosed with colon cancer. It was treated successfully with only a few minor setbacks in the way of open wounds and infections. After various other tests brought about, I think, by his brother getting cancer at a similar age it turns out he has a gene defect in his third chromosome; the defect, known as MLH1, gives rise to ‘hereditary nonpolyposis colorectal cancer‘ (HNPCC). People with this gene defect have about an 80% chance of getting colorectal cancer at some point in their life – usually between the ages of 40 and 60 depending on the actual type of cancer.

As it’s autosomal-dominant there’s a 50:50 chance that each of my dad’s kids also carries this gene defect. This afternoon I’m off to see a ‘genetic counsellor’ who will talk through the process, implications and, at some point, steal some of my blood. If it turns out that I also have this gene defect then I will be able to have regular check ups every 18 months and would also be fast-tracked through the NHS for treatment if anything was found. It also means a 50:50 chance that my little boy and girl may also have the gene defect. If I don’t have it, then all I’ve lost is a bit of blood.

It brings some rather tricky questions into play. I was ‘lucky’ in that I was 30 when we found out about the gene defect. Old enough to understand what was happening and helped by years of study in this field (my degree is in Biochemistry with Biomedicine – a lot of focus on the genetics of cancers). Our kids are 5 and 4 years old at this moment in time. Far too young to really know the intricacies of what’s happening. If it turns out that I have the MLH1 gene defect then what is a ‘good’ age to explain it to them? For them to have a blood test to see if, they too, are affected? How would I feel knowing that I have passed on this 80% chance of colorectal cancer? When my dad first told me about it he apologised. I successfully told him he was stupid (by ‘successfully’ I mean I didn’t get a clip ’round the ear ‘ole!) and that there’s nothing he’s done that’s caused it. Yet, here I am thinking exactly the same things…

I regularly tell people to stop stressing about things they have no control over. I’m hoping I can take heed of my own words.