BRCA Journey | How I found out I am BRCA1 positive & why have I chosen to get a preventative double mastectomy?

Hi friends! I’ve been sat on this post for a while now, not knowing where to start. Suppose the best place to start would be to tell you how I found out I am BRCA1 positive.

The big C runs in my maternal side of the family and quite heavily. My great-grandaunt, great-grandmother, grandaunt and grandmother – all had to fight this monster.

When I was younger, I was of course aware of how this monster had havocked through my family, but I did not know it was something that could be inherited. I also knew nothing about a gene that would indicate an increased lifetime risk of developing breast and ovarian cancer.

The Human Genes Research Act – Estonia

In December 2000, Estonian Parliament passed the Human Genes Research Act and with that Estonian Genome Project was established.

The Estonian gene bank of the University of Tartu has created a national biobank, which has already been joined by more than 200,000 Estonians, or nearly 20% of the adult population of Estonia. Data has been collected since 2002, with 150,000 gene donors joining in 2018 and 2019. It is a very important database for the development of both domestic and international science.

My mother was one of the earlier ones who responded to an advert that invited to become a gene donor to find out if she carries any mutated genes that may cause illnesses. So in 2007 she went and donated her blood for research.

It wasn’t until about 10 years later that she got the call that she’s BRCA1 positive and what that means. See my first post explaining a little about BRCA gene here. There is a 50/50 chance that the gene is passed on to children. So she asked me and my sister both to get tested for the gene too. And this is where my journey began.

How did I find out that I am BRCA1 positive?

After my mum got the call from gene studies, she urged me to go get tested, too. It wasn’t until the latter part of 2018 that I took it more seriously. I finally contacted my GP to find out how to get tested myself. My GP referred me to the NHS Clinical Genetics department where I attended the genetic counselling appointment. After the appointment I proceeded to give my blood for testing.

The genetic counselling prior to giving blood was really helpful. We went through the scenarios should the test show I am BRCA positive and what my options would be if the results were positive. I remember the team being very nice and sympathetic. Because the likelihood of me being a carrier was so high, it was no surprise that the test results showed that I am carrying BRCA1 gene mutation.

I’m BRCA1 positive, now what?

Following the confirmation I was called in for another appointment with the genetics counselling team to go through my options more thoroughly. I was asked how I’m feeling about the results and if there was anything else they could do for me.

Because I was now considered “a high risk” I was walked through what my options were to monitor/risk reduce.

Firstly I was placed on an annual monitoring programme. This meant that I would get an annual MRI until I’m about 50, after that it’ll be an annual MRI and mammogram.

We discussed the option for risk reducing mastectomy at the time, but as a 30 year old I wasn’t keen to go with that option straight away. I think I just needed some time to wrap my head around all this information I was given.

As there is currently no reliable monitoring for ovarian cancer, the only option to reduce the risk involves removing the ovaries and Fallopian tubes. This is something I may consider when I’m a little older, but definitely not quite yet.

Prophylactic bilateral mastectomy with immediate reconstruction? Why on Earth..??

My first MRI was scheduled for early summer in 2019. My first scan in the machine was really quite frightening. The MRI machine is incredibly loud and having to lay on your front for about 30 minutes without being able to move wasn’t very comfortable.

The results were sent to me by post a week or so later asking me to attend a follow up appointment because they had noticed something on the MRI scan. I attended a mammogram appointment and got sent straight to an ultrasound from there. I had a breast reduction surgery back in 2010 and the suspicious areas turned out to be just scar tissue, phew! But let me tell you – the way my heart sank when I received the letter to go in for further testing…

I’ve now had 4 MRIs in and every year when the time gets closer to have another one, anxiety creeps in. I’m always so nervous that instead of a letter confirming no cancer has been found, I get a letter calling me back in for further testing. And I’ve decided that is not how I want to live for the rest of my life.

Having the prophylactic mastectomy will take my lifetime risk of developing breast cancer from 73.9% to under 5%. It really is a no-brainer!

I cannot wait to have the surgery so that I can finally take a breath of relief and to be able to say that I have at least taken charge of breast cancer, before it ever had a chance to take charge of me.

Kat x





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