Genetics

Another significant update from me. Some of you may remember that I hassled my oncology team to refer me for a genetics test last year while I was going through chemo. A small percentage of breast cancer cases are caused by a genetic mutation, called BRCA1 or BRCA2 (which stands for 'BReast CAncer'). This mutation also causes ovarian cancer and my dad's sister, Trish, died of ovarian cancer in her late-40s which planted the seed of suspicion in my mind when I first heard about these genes. My oncologist refused to refer me, as I didn't quite meet the NICE (National Institute for Clinical Excellence) guidelines for referral. This is because my cancer was triple positive, and genetic cancers are more likely to be triple negative. Also I only had one relative who had a breast or ovarian cancer diagnosis, and NICE wants you to have 2 or more. But then I heard from a woman in one of my support groups that the Royal Marsden hospital routinely BRCA tests everyone who is diagnosed with breast cancer when they are under 40 years old. (This is because the younger you are, the more likely it is that genetics have caused your cancer diagnosis rather than 'lifestyle factors', as you haven't been alive for as long!) So I pushed more firmly when I had a registrar see me instead of my regular oncologist, and I got my referral. It took ages, but in January I had my blood test done and in May I found out that I carry the BRCA1 gene mutation.

I've been keeping it quiet for a while because it was such significant information, I wanted to process it, and decide what my next steps are. I was tested at the genetics department at the Great Ormond Street Hospital, and as part of the testing they provide you with genetic counselling, to help you make informed decisions and understand the implications of carrying the mutation. I have also read a lot of research so that I feel I have all the information to hand.

Firstly, I've decided to have an oophorectomy. This is surgery to remove the ovaries and fallopian tubes, to prevent ovarian cancer. With the gene mutation, I have a 40-60% chance of getting ovarian cancer. Ovarian cancer is very hard to detect, and there is no screening available, so the only way of reducing this risk is to have them removed. I don't want children, so there is not that consideration for me, so I've proceeded with initiating this surgery. I saw the gynae-oncologist last month, and I'm seeing her again in November, but I'm on the list to have this as soon as they find me a slot. It's elective surgery, so there's a bit of a waiting list, but it could be sometime in the new year. I will post more here once I have some more information.

Next up, I've decided to have a double mastectomy. This is surgery to remove both my breasts entirely. Because I carry the BRCA1 mutation, I have a 70-90% chance of getting a new primary diagnosis of breast cancer. This is not a recurrence of my recent cancer (my recurrence chance is quite low due to the preventative measures I took and the drugs I'm on now), but a new initial diagnosis. As a BRCA1 gene carrier, the NHS will screen me by giving me an MRI every year until I am 50, then a mammogram every year after that, but the screening only detects a cancer once it has started to grow, which means I would have to go through treatment again if this happened. The only way to reduce the chance of getting a new breast cancer to 2% is to remove my breasts. And I really do not want to go through chemo again if I can help it! I'm meeting my original breast surgeon in November to talk about my options and timings for this. I'm keen to have my oophorectomy first and then deal with my breasts. Plus I have the small matter of finishing my masters, which I started again last week, so I'd quite like to time these operations around that if possible. Again, I'll post more here when I know what's what.

It's not great news, but I'm glad that I know. Imagine if I had not had the test! Knowledge is power, so I shall use this to make the right decision. In a way I'm kind of relieved, as it has confirmed to me that the cancer was nothing I caused myself, nor was it something I could have prevented. The hardest part about all of this is that my sisters and paternal cousins now have to go and take the test. They all have a 50% chance of carrying the gene mutation. It's easy for me, a 39-year-old woman with a life partner and no desire for children, to make decisions about having ovaries and breasts removed, but it's going to be harder for them to make decisions, as younger single women, if they carry the gene.

At first I was quite upset, as I felt as though I was really turning a corner and putting this whole episode behind me, and this was another spanner in the works. But now I'm resigned to it, and dealing with the practicalities of what it entails. Cancer really is the gift that keeps on giving! And having these surgeries will really make me feel as though I've done everything in my power to stop it from coming back, and give myself the best possible chance to live a long and happy life.

In other news, my hair is growing! Here's a comparison of now (left) and this time last year (right):

I had my 4 counselling sessions at the hospital, and I'm finished with that now. I did actually find them quite useful and have been implementing some of the things we discussed. I'm still getting fitter and losing my cancer weight (although my hip pain is preventing me from exercising as much as I would like). My toenails have all grown back (one of them ingrown, ouch!). I'm pretty much able to follow my uni readings and lectures, so I think my cognitive fog has lifted, which is great news for my studies. And I attended a 'sleep clinic' on Thursday this week, to try to help me with my sleeping problems. I learned some really useful tips, but they didn't stop me from waking up at 3.30am this morning and not getting back to sleep! Oh well, small steps.

I'm taking part in a few more studies, none which will help me directly, but all of which will help contribute to the bank of medical knowledge about cancer, and hopefully help someone in the future. Some of them are questionnaires, and most also require blood samples and regular updates. One of them is to test a new possible screening technique for ovarian cancer in BRCA mutation carriers, so I'll contribute to that until I have my ovaries removed. It feels good to be able to contribute to medical science and the furthering of measures to tackle cancer. The thought of preventing people in future from having to go through what I've been through is very motivating.

My friend Ben texted me to say he things BRCA stands for BRave CArmel, and I'll take that!