It’s in the Family - What exactly is BRCA2? The process of genetic testing and how to assess your own risk.

Since I started sharing my journey, I’ve had lots of questions about how exactly I found out I had a genetic mutation. I’ve previously touched on it briefly, but here it is in greater detail. I will explain exactly how I know, and how I confirmed my diagnosis. Furthermore, I have something very exciting to share to help you assess your own risk. 

Hereditary cancer can run in families, and the increased cancer risks can be passed down from either of your parents. It occurs when you inherit a mutation or a change in a gene that would usually protect your body from cancer. A mutation of one of the protective genes such as BRCA1 and BRCA2 leads to significantly higher cancer risks in both females and males. If you carry a mutated protective gene such as mine (BRCA2) you have a 50% risk of passing it on to your children, subsequently causing them to carry the same increased risks.

I’ve written before about my mum having breast cancer when I was much younger and I talk about this very openly. However, to the surprise of many, my BRCA2 mutation does not come from her. Mum's cancer was not genetic; she was simply unlucky and it was “just one of them things”. The biggest surprise to most people is that my BRCA mutation was passed on to me from my father.

The second plot twist...is that my dad doesn’t have cancer either. Thankfully, he has lived a very healthy 59 years (sorry dad!) with absolutely no idea that he was also BRCA2. Obviously, my father does not have the significant risk of ovarian cancer like I do but he does face an increased lifetime risk of breast cancer like myself and also prostate cancer (Yes - men can and DO get breast cancer!).

Our knowledge first began to develop when dad was approached by his half sister who was diagnosed with breast cancer, and from this diagnosis, found out that she was a BRCA2 carrier. Her mother is negative for the genetic mutation, so we could only assume that their father - and therefore my grandad - was the positive carrier. This is the furthest my knowledge about my family tree goes. I don’t have a relationship with my half auntie but I am very lucky that she shared the information with my dad. If she hadn’t, I would probably have had no idea until it was too late. With the knowledge that my grandad was a positive carrier, my dad was now eligible for a genetic screening.

There are a lot of people like myself who don’t have a close relationship with anybody other than their immediate family. My grandparents were separated on both sides and I know nothing about my relatives past this point. I have a very small family, with both of my parents coming from broken homes. I don’t have contact with my aunties, uncles or any of my half cousins. This does make me think a lot; for this reason should everybody be eligible for genetic testing? I’m not sure! But it certainly does make me wonder how many women and men are BRCA2 positive, and yet have no idea.

So there we were, in May 2017 sat around the dining table; me, my mum and my dad. My mum started the conversation with the classic, gut-wrenching “So we have something to talk to you about...”“Oh my god you’re getting a divorce? Has your cancer come back? Oh my god are you dying? Oh my god what’s my sister done?” (Sorry Beth haha!!) Funnily enough, the more I write my blog, the more I realise how dramatic my mind can be.

Anyway, I was devastated. I cried a lot and initially I was very angry with my parents. My first, very selfish words were “You let me do this (i.e my boob job) knowing that?” 

So many people have been interested in my boobs (perhaps my blog is becoming too honest) and asked me would I have still gone ahead with my boob job knowing what I know now. Probably not - but at least I will have a cracking pair of boobs on my wedding day, wearing the dress of my dreams.

Anger soon turned to grief, which I wrote about in detail in my previous post. I understand why my parents told me when they did and they have been incredibly supportive throughout the whole process. Not only does my dad carry the guilt of passing a mutation onto his daughter, but he too has had to come to terms with his increased health risks.

So the referral process. This was made unnecessarily difficult for me and is something that NEEDS to change. Silly me thought that I’d pop into my GP, have a blood test and happily carry on my life. Wrong. Although you do visit your GP when you find out that you may be at risk of carrying a genetic mutation, you have to wait for them to refer you to your local genetics centre, with mine being at Great Ormond Street.

I sat infront of a nurse practitioner who looked at me blankly, told me she didn’t have a clue and wrote it on a sticky note. In fact I wrote it for her because she had no idea how to even spell it. I think I wrote on the note some desperate plea along the lines of “Jessica, BRCA2 referral. Urgent. Please. You must do this today. Call me. Please please.” She then proceeded to remind me that she was very busy, and could I please leave her office and carry on being crazy at home.

I am a nurse and I can’t tell you how many sticky notes I write (at home and sometimes at work) that I forget about so this gave me zero hope. I felt utter desperation. I was desperate for this referral and had waited 3 weeks to even get through the doors of my GP. I don’t feel angry towards this professional, as we all know the current state of the NHS is indescribable. We have incredibly busy jobs and as professionals, we are never expected to know everything.

I was speaking recently to a lady from Ovarian Cancer Action and discussing providing education for healthcare professionals such as GP practices to make them aware of what to do when people like myself walk through their doors in tears, begging for genetic referrals. My appointment lacked empathy and caused me a considerable amount of distress which I really want to change for anybody else who has to go through the same.

So I persisted and became my own worst nightmare. Calling the nurse 3 times in one afternoon. Sure enough my referral came through the post a week later.

A few weeks later I met with my genetic counsellor who told me everything you could possibly need to knowabout BRCA2 (including something about life insurance - I didn’t want or need to know this at this point but thank you anyway!). All I wanted was to get my blood form and leave. At this point I did not know my genetic status so I did not want to talk about it. I found this appointment incredibly difficult and I was desperate to walk out. There was a lot of discussion about my young age and “Do you really need to know your genetic status now? Your risk is still so low, will it change your life now?”. I really feel like I had to push to be given the permission to get the blood test but again, I persisted.

The truth of the matter is yes, I did need to know now and yes, one year on it has completely changed me and my life. If you have a gut instinct about anything, I beg you to follow it and fight for it. I am the sort of person that needs to know. I couldn’t live my life knowing that I had a 50% chance of carrying this risk or 50% not. If I got cancer later down the line and found out then that it was hereditary, I wouldn’t forgive myself.

This is me though, and everyone is different. My sister has decided not to get tested at this point and she is comfortable with that decision. There really is no right or wrong and ultimately it comes down to what you want and what you feel you can cope with.

From here, I went to my local blood test centre. If you are going through this process, check with the team what days they send genetic bloods. I had to have my test repeated as we realised afterwards that genetic bloods were only sent out on a certain day - oops! (Thursday for me but this may be different in a different hospital trust!).

The 6-8 weeks waiting for my result were the hardest. I think this is really when I started to develop anxiety about the situation. Google became my new best friend/mostly my enemy. I have been thinking hard recently if there’s anything I can do or a service I can create that could make this stage easier. 6-8 weeks is an incredibly long time when you are waiting to find out whether or not you have a genetic mutation.

I chose to get my result by post however I was offered to go to the clinic to find out. I chose to receive my letter in the post as 1) I didn’t want the faff or anxiety of going into the clinic, and 2) I still had the hump from my previous appointment, and 3) I was confident that I have a good enough support network at home and didn’t feel like I needed a professional to break the news. I was however offered a follow up to discuss everything further and in more detail.

As I’m sure with any medical condition, your initial appointments can be information overload so this was a good opportunity to go back over some of the important things I had previously been unable to process. I’d recommend to anyone going through something similar to write a list to take in to your appointments. I have been to appointments where I’ve had millions of questions on the drive in but got complete mind fog as soon as I sat in the chair. I have a BRCA note on my phone that I jot down the random questions and thoughts that pop into my brain.

Despite an initial frosty appointment mostly due to anxiety, my genetic team are incredibly supportive. There’s been a few times I’ve had random questions and been able to call them. They are with me for the rest of my life. In fact at my last appointment, they told me they have set a reminder for my 40th birthday to remind me “It really is time now to remove your ovaries” (I mean I’m not sure I will forget but thanks).

I have also met with my breast surgeon and my allocated breast care nurse. You can do this at your own pace but I want to proceed with risk reducing surgery sooner rather than later. The breast care team in my trust are excellent, and I can’t thank them enough for the support they give me and how valued they make me feel as a patient.

So this is the part I am excited to share! When mum had breast cancer I did always wonder about genetic risk and I have had so many messages asking me questions about your worries, family history and risks. Ovarian Cancer Action have created a tool that you can use to assess your risk of carrying a genetic mutation such as mine. You can find the link here:

https://ovarian.org.uk/risktool/

If your risk is considered high or you are concerned about family risk then you can find various template letters to send to your GP here: 

https://ovarian.org.uk/ovarian-cancer/brca/am-i-eligible-for-testing/genetic-testing-resources/

I’ve read through these templates and they are excellent. Using one of these may certainly have helped me when I was at the beginning of my journey in the GP office.

If like me, you are unsure of your family history, it can be really daunting to start a conversation to find out more. However, my story demonstrates just how important it is to find out as much about your family’s health as possible. Ovarian Cancer Action have loads of advice and information about how to approach this on their website.

If you are here because you are going through genetic testing then good luck. It is an incredibly stressful and testing time but be assured that you are not alone.

As always thank you for reading my ramblings and I hope it helps someone, somewhere!

All my love, Jess x