Last week I finally had the results of three years worth of genetic investigations that have been going on since I was treated for bowel cancer in 2005, a month after I turned 25.
Obviously I was unusually young to get this disease, which is usually associated with older people. I was extremely lucky it was discovered in time because I did not have the conventional symptoms including bleeding, but rather had become extremely amaemic over the course of a few years while the tumour grew silently. I only discovered I was severely amaemic when I tried to give blood and was referred to the doctors straight away (they told me my iron levels were so low that technically I shouldn’t have been able to walk around, however they think i had become amaemic slowly so had learned to adapt over time).
To cut a long story short I was put on the iron tablets and vitamin injections while they tried to work out what was wrong with me. But before they managed, I started getting pains in my side one Saturday, was taken to A&E where they suspected appendicitus. I was taken down for an emergency op that night, but when I woke up – in High Dependency after six hours in theatre – a consultant told me “We found a tumour in your bowel, it’s probably cancer, but don’t worry we think we’ve removed it all.”
I had six months of (thankfully not very severe) chemotherapy to ‘be on the safe side’. The only thing I ever worried about was becoming infertile. Six months after finishing chemo, we were given the ok to try for a baby. About eight months later, I was pregnant. The result is our little star, Lilly, born in December 07.
Anyway, that’s the background. After my operation, I was referred to the geneticist because of the unusual nature of my cancer, and the age at which I had it. Apparently, mine was a right sided tumour (which explained the lack of bleeding as a symptom) and one which is usually associated with a hereditary genetic fault of some kind.
I went to see the geneticist in July 2006 to go through all my family history to work out what the possible genetic cause could be. Unfortunately my mum and dad split up when I was six months old, and i’ve never seen him since, so the information we were able to give the doctor about his side of the family wasn’t great. However, as we started talking about my mum’s side, she remembered relatives with certain conditions that might be relevant, and the doctor said it was possible the cancer was HNPCC related, through my Nan’s side of the family. HNPCC is a genetic condition which means you have increased vulnerability to certain types of cancers, particularly bowel and womb cancer. It can be passed down in your genes and while it remained a possibility, the geneticist advised my mum, half sister and any other close blood relatives should be offered regular screening, particularly two yearly colonoscopies (investigations of the bowel to check for growths), which I already have.
Since that initial time visiting the geneticist, she has been doing all kinds of clever research into my genetic makeup. She initially looked at blood samples to see if there were any of the characteristics of HNPCC present, but couldn’t find any. Then she took samples from my tumour itself and ran tests.
Three years later and the researchers have gone as far as they can. They can’t find any evidence of HNPCC, but they’re pretty convinced my cancer was genetic in origin. They have suspicions about two of my “repair cells”, which don’t seem to be working correctly. It is their job to regulate normal cell production in my body, to find cells which have reproduced incorrectly and correct them before they go nasty and potentially turn cancerous. Unfortunately it seems I may have two corrupt genetic ‘policemen’ in my system, although the geneticist cannot be sure what exactly this means for me. He said we already know it leaves me vulnerable to tumours in my bowel, but we cannot know whether I may be at greater risk than anybody else of contracting other types of cancer, and if so, how much greater my risk might be. His advice was to be vigilant of my body and be cautious – if I think there’s any chance of something being wrong with me, act on it. In other words, be a bit more of a hypochondriac than I was when I struggled on for years with anaemia thinking i was just really unfit!
Unfortunately / fortunately this means that my mum and my half sister, who is now 2o, are recommended to have colonoscopies every two years, like me, in case they are at risk. Theoretically, Lilly will have to have it too, once she’s older, but I’m banking on the fact that things will have advanced in 20 years. We had hoped that they would be able to isolate a faulty gene so that any blood relatives could be offered a simple blood test to see if they carried it too. A colonoscopy isn’t a very nice procedure – you have to starve yourself for two days and take laxatives so they can put a camera up your bottom to look at your bowel – but it’s a lot better than having cancer!!
The whole thing has made me think. I want to try and do what I can to minimise my chances of bowel cancer returning, or worse still, of getting any other type of cancer. I think i’m going to look into diet and what I can eat or not eat to help myself stay well. Perhaps I should be eating less red meat, or less / more fibre, I’m not sure. I also know that the reality is, I may be no more or less likely than the next person to get cancer. But I want to live a long life and see my daughter grow up and enjoy a long retirement with my lovely husband. So, whatever I can do to help can’t be a bad thing, can it?
Maybe I will come back and let you know what I find out – and whether I manage to stick to it!