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Joanna Considine 
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The Gene Genie

Today's blog will not be for everyone. I am writing about my family history of cancer and my experiences of genetics counselling and screening. If you don't fancy it, please skip this one and wait for the next one. And please be advised that I am no expert, I have had no medical training and my ears are not great, so my blog today is written about my own experiences and advice that I have been given, some of which I may have misheard or misinterpreted. You have been warned! If anyone has any worries or questions, they need to speak to their doctor or visit www.macmillan.org.uk or similar websites for advice and support.

When my mum died 20 years ago of cancer, I met with a genetics counsellor who advised me of screening programs for both breast and ovarian cancers for which I was eligible. I was told that the ovarian screening was intrusive and there was a suggestion that the tests might actually result in a change in cells, as samples were gathered. Please remember that this was 20 years ago, and methods have undoubtedly changed. I chose not to sign up, although I may have decided otherwise, had it not been for the nature of the tests. I was also eligible for early mammograms and from the age of 35, I have had annual mammograms, due to being in a higher risk group.


Two years ago, after discussions with my doctor, I was referred for genetics counselling due to a family history where close relatives have been affected by breast and ovarian cancer before reaching the age of 60. I was sent a questionnaire to complete and return, about my family and their illnesses. I then received an appointment at my local hospital to meet with a genetics counsellor who told me about genetics testing for BRCA1 and BRCA2, which are faulty genes which have been identified as triggering a higher risk of developing certain types of cancer. The counsellor was emphatic that these are unlikely to be the only genes associated with developing cancer, and that new research is ongoing to try to identify other genes which may also result in higher risks. I gave permission for my blood to be tested in the future as different tests become available. The counsellor talked me through the testing process, and described possible outcomes of the test, as well as explaining options for the future. And when she was clear that I understood, and that I was aware of the implications, she asked me if I wanted to go ahead and have the test. I agreed that I would, and was sent straight away to the blood taking unit, where my blood was taken a few minutes later.

I had spent a long time deliberating over whether I wanted to know if I had a higher risk, or whether I would be happier in ignorance. I have to say that for most aspects of my life, I prefer not to know and bury my head in the sand rather than face unpleasant news. But if the results indicated that I had inherited a faulty gene, I could take pre-emptive strikes against the inevitable. And more importantly, I have two daughters, which was what sealed the deal for me. If I did not have the faulty genes, then it meant that they wouldn't have them either (although of course they also inherit genes from their father, but his family history is very different, and far less risky). So I trotted off to have a simple blood test and then buried my head in the sand until the results were in.

A few weeks later I was called back and was relieved to hear that I did not have the faulty gene, but again the counsellor stressed that this did not mean that I was risk free. She talked about the significance of a healthy diet and active lifestyle and the impact of smoking and alcohol. And offered other options which might further reduce my risk, which is still significant. I was still eligible to have annual mammograms, and could also be referred for surgery to remove my ovaries. I agreed to both. I didn't want any more children and felt that I would be largely unaffected by it. I was referred to a surgeon who advised me that I should perhaps wait until I hit the menopause as the impact would be less hard hitting. It was agreed that I would contact her when I decided I wanted to proceed, but there was no rush. However, another appointment with a different doctor a few months later made me change my mind. He asked me why would I wait. I talked to him about concerns over menopause and hormones, and his response was chilling.

Ovaries can easily be removed. But once there is cancer, that's a different matter altogether.

I listened and thought about what he was saying, and remembered when my Mum was so poorly, and I knew that I didn't want my kids to ever have to go through what we went through. I called the surgeon a few days later, and made an appointment for another consultation.

In September, I met with her and had an uncomfortable scan, during which she found it difficult to find my ovaries. She talked about fibroids and said I had a bulky uterus, which could also be removed if I wanted. I said I would rather not, unless it was necessary., because I would rather keyhole as opposed to major surgery. I asked lots of questions about how long before I would be able to run again, what supplements I should be taking and how I would be affected in terms of mood, symptoms of menopause etc. I was reassured that I would receive information post surgery and that I would need to refrain from exercise for a few weeks - maybe 6.

On 31st October, I arrived at the Unit, where I was directed to a bed and visited by a host of nurses, anaesthetists and surgeons, all checking my details and gathering information. I was measured for surgical stockings and given a size small (I have never been a size small in my whole life, so this made my day).

I was taken down for surgery, came round in the recovery room feeling completely rubbish and then swiftly returned to the ward where I was encouraged to get dressed and sit in the chair. within a few hours. I was very uncomfortable but did as instructed and was told I could go home once the surgeon had seen me. So I waited for a while until she arrived, only to be told that it had not been possible to remove the ovaries because they were hidden behind my uterus. Again, options were discussed and I was advised that my uterus should be removed, a full hysterectomy and ovaries out at the same time. Recovery from the laparoscopy was unpleasant, especially an excruciating nerve pain in my shoulder which is apparently common. And I had to take it easy, abstain from driving and allow my body to heal, whilst waiting for a date for the full hysterectomy. I waited for almost two weeks, and then called the hospital, in case they had overlooked me. I was offered a cancellation slot in two days time, and had to rush by taxi to have another MRSA swab. I will save the story of my hospital stay and my recovery for another time, although I will say that it was not easy. And as most of the followers of my blog are (I think) women of a certain age, I will also share what I have found so far about the menopause. Before I had the operations, I found it hard to find information about what was going to happen, and how I would feel. The stuff I did find was all very clinical, or scary horror stories, neither of which held any appeal. But an old friend who had a hysterectomy recently reassured me and answered as many of my questions as she could (as everyone's experiences are so different). And so I hope that in a future post, I will be able to lessen the mystery and provide reassurance or at least offer some idea of what to expect, for anyone who might be in the same boat. And whilst it isn't pleasant, it really does get better, even if it takes a few weeks, and things return to normal eventually.




You can read more about genetic testing by clicking on the following link; https://www.nhs.uk/conditions/predictive-genetic-tests-cancer/

https://www.cancerresearchuk.org/about-cancer/causes-of-cancer/inherited-cancer-genes-and-increased-cancer-risk/genetic-testing-for-cancer-risk#What%20does%20genetic%20testing%20involve?


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