Saturday 5 October 2013

D.N.A?? Well, take it awayyyyy....!

Firstly, only ancient Ab Fab fans like me will "get" the title of this post.

I received a call from the Genetics testing lady on Thursday in relation to the test we did in July following my diagnosis.

Now if she was calling me this could only mean that she had "news" because she had already said that if nothing showed up on the test then I would be sent a letter confirming a negative result and I would not need to see her again.

Despite knowing this, the bizarreness of the cancer experience meant that having had my pre chemo blood test the day before, initially I was only glad to hear that the person calling from the hospital was not someone calling to say that due to a blood problem Friday's chemo could not proceed.

So having established that in my mind I thought I had better concentrate on what this lady had to tell me. My blood tests had been submitted and tested for the BRCA 1 and 2 gene mutations - yes, just like Angelina Jolie, get me.

I have tested positive for what the newspapers like to encouragingly describe as the DEADLY BRCA 2 GENE. In fact, everyone has the gene but not everyone has the genetic mutation that stops your body from properly protecting you against tumour cells. According to statistics, the BRCA mutations are responsible for around 5% of breast cancers.

There are pros and cons to this result.

Pros:

1. All bets are off in relation to whether the health finger pointers can say that I caused my cancer by any sort of lifestyle issues such as drinking, taking the pill, etc etc. It was written since I was first born. For what it is worth I don't believe in the alleged lifestyle causes anyway to any great extent. I take the view that they are largely circumstantial "findings" put out there by research bodies in order to justify large amounts of time and money spent on research and trials which (through no fault of the researchers) come back inconclusive. It doesn't sound good to say "thanks for the million pounds in funding, we conclude that cancer is actually pretty random". I thought the same about the cot death research and warnings when I had my babies and it really doesn't help to make anybody think that what is literally a purely random and devastatingly unlucky occurrence is something that they could have avoided.

2. I know I have an inherited gene now and so my relevant relatives can be tested too, including my girls when they reach 18, if they decide to have the test. It's only a blood test but there is also a significant amount of genetic counselling that goes with it to prepare you for the possible result and to make sure you want to take the test given the decisions that might follow for you if you do receive a positive result. I would imagine this situation to be very difficult for someone who has not actually been diagnosed with cancer as yet but still faced with having to decide between yearly scans or actual preventative mastectomy surgery.

3. I had already made my surgery decisions on the basis that I would test positive for the mutation so at least I am not facing a preventative right hand side mastectomy now and I have taken the first steps towards arranging for preventative gynaecological procedures to be carried out too. I will re-visit that with my surgeon and oncologist now that I have my genetics test result.

Cons:

1. Erm, I am BRCA 2 positive which means that I have a much higher risk of breast and ovarian cancer, plus I would venture to add, other cancers generally. 

2. In the early 2000's when I first heard about these tests I saw my doctor and and asked him to refer me. He scoffed and said that the tests were still very new and he did not think my family history would qualify me for referral. Since receiving this result I have checked the NICE guidelines for GP referrals which were in place at the time and it appears that I would have qualified given the presence of breast and other cancers in two "second degree" relatives being a grandmother and aunt on the paternal line along with a guideline that where the history is suggested to be following the paternal line a referral should always be considered even if other criteria are not met. There's a lesson here - if you think you are being fobbed off, try checking the relevant NICE guidelines online and produce them to your GP if necessary. But I didn't even know such things existed at the time. I can't change the past. Them's the rubs.


Having cancer has changed my life and my outlook totally. I rushed everything, got stressed out about everything and was far far too precious about things before diagnosis. It has caused me to take a long hard look at my life and my whole perspective on everything. I don't want to sound clichéd and I know these things are so easy to say when one is still feeling relatively well physically, but I am proud of what I've become since facing this diagnosis and I am not sure that knowing about BRCA 2 earlier, although it could have produced a better outcome  for me in that I might have been able to avoid getting cancer, I don't think it would have been enough to make me change my ways as effectively!! It has surprised even me that such a devastating life event has actually improved my day to day attitude and family life. But it's true, and I'm sure there are a number of other cancer sufferers past and present who will vouch for that because once you are diagnosed then in the classic words of Andy Dufresne, you "get busy living, or get busy dying".















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