The emotional impact of being diagnosed with a genetic mutation

It’s been a couple of months now since my BRCA story was first published by Ovarian Cancer Action. The response was amazing and to my surprise I had so many comments and messages asking to hear more. One of the biggest questions asked was "how do you feel?” and “how do you cope?”.

So... this is how I feel. This is the mental and emotional side of being diagnosed with a genetic mutation. 

This post has taken me 6 weeks to draft. I thought I had myself sussed however when I put pen to paper, it’s actually been very difficult to order my thoughts and my feelings in a chronological order let alone in depth. However, I must say it has been very therapeutic and I now understand more about how I felt in them first few months and perhaps why.

Since the first day I was told that I had a 50% chance of carrying a BRCA mutation I have felt every feeling under the sun. Fear, devastation, positivity, negativity but ultimately empowerment. 

My first post was very positive and everything I wrote truly came from the heart. I am exactly one year next week since my diagnosis and thankfully now in a place where I can talk openly and see all the positives. I feel empowered that I have the ability to change what has the potential to be devastating later in life. Knowledge is most definitely power and I have thrown myself into using this not only to help myself but raise awareness and support others.

However, it hasn’t always been positive vibes from day 1. When I first received my letter in the post I was devastated. I cried straight for about a week, just about pulling myself together to leave the house for work. I remember the first day running off at least 5 times at work to stop myself crying infront of people, telling everyone “I'm okay, i'm just tired”. As I previously wrote, I never read that letter in full and to this day I still don’t know where I threw it - most likely in the bin. I felt overwhelming sadness and a gut wrenching feeling that I am definitely going to get cancer and die young. 

In the 5 minutes between picking that envelope of the mat and throwing the letter back down, I planned out my whole entire life. I immediately knew I would have a mastectomy (ideally tomorrow), have children the week after that with my ovaries out the week after that. Hilarious. Unrealistic and extreme. And yes, thankfully, I am pleased to report I have now pulled myself together.

I’m not sick. I do not have cancer and I am so very lucky at this point to be healthy. Unfortunately most BRCA carriers don’t find out they have the genetic mutation until they already have cancer and it is too late, so with this in mind, I consider myself incredibly blessed and incredibly lucky that I haven’t got to this point - and keeping everything crossed, I never will. 

However, it is difficult not to feel like a ticking time bomb which is how I see myself most days. I am terrified everyday of any symptom that could potentially be a sign of the cancers I am most at risk of. If I wasnt a hypochondriac before, I probably am now! Thankfully my GP is extremely supportive and although they may at times think I am crazy, my concerns are always taken seriously. This really instilled to me, both in my personal and particularly my professional life, that a worry is never silly and shouldn’t be brushed under the carpet. It took my mother several visits to a GP before her concerns were taken seriously. She was later diagnosed with breast cancer. 

I have decided to opt for a preventative double mastectomy, not tomorrow (lol) but after my wedding. This of course is an extremely difficult decision but at the same time a very easy one to make. I am incredibly sad and anxious that at 25 years old I am making the decision to remove my breasts (it hurts even more knowing how much I paid for them in the first place). However, saving my life is much more important. I cry about this often that I am healthy yet putting myself through this surgery. I am anxious about how my body will look after, however I know that my life is more important than my looks and that this is a sensible decision to make. The truth is, I'm hoping to sweet talk my surgeon into making them bigger and better next time (joking) (a little bit). Weirdly, since my diagnosis I don’t even like my boobs. They are trying to kill me and a major part of me can’t wait to get them off! 

It is important to note that a prophylactic mastectomy is not my only option. I could take a drug called Tamoxifen, but why would I want to take a long term medication with unpleasant side effects as a healthy young woman? The other option is simply monitoring. Monitoring yearly to catch the cancer early so I’m more likely to survive. To me, monitoring my risk is just a countdown to a cancer diagnosis which I am not okay with. Don’t get me wrong, my chances of getting cancer aren’t 100% but they are high enough for me to take this very seriously and treat my risk as if it were a definite. This may seem pessimistic and perhaps dramatic, but I do not ever want to become as unwell as I remember my mother being if there's something I can do to avoid it.

I don’t think there is ever a right or wrong in how to manage this, but for me deciding the path I want to take has been incredibly easy. Having a double mastectomy will cut my chance of getting breast cancer from an up to 90% lifetime risk to less than 1%. Unquestionable really.

In the last year I have definitely thrown the odd paddy, I have cried lots and shouted lots. I found myself having angry outbursts I’ve never experienced before. 

Before you are allowed to take the blood test to determine if you are a carrier, you meet with a genetic counsellor. I left her office furious. I can’t fully understand why but it made me so cross to sit infront of someone telling me all about it when they don’t have it. If anyone else experienced this feeling I’d love to hear from you as it’s something I still find tricky. 

I think ultimately feelings of anger and sadness come down to lack of control and in the early days probably anxiety and a lack of understanding about how I was supposed to feel. For a long time I had a million thoughts flying around my head and it was very hard to ever think clearly. 

The problem with any genetic mutation is that it is permanent. My doctor can’t prescribe me anything to make me better. Genes are genes. These are the cards that have been dealt to me and it’s as simple as that.  Part of what makes me, me is that I am a BRCA2 carrier and that will never change, this is forever with a 50% chance of passing it to my future children. I think I have come to terms with this aspect very well, I’m a strong believer in that I must get on with life because what is the point in wallowing in self pity when I can’t change the situation I am in. 

I wrote before how I never doubted the diagnosis. I never thought once that the result could be wrong or a mistake had been made. Although i've spoken a lot about the negative feelings I experienced, I have never felt sorry for myself. I've never asked "Why me?" because why not me?

So how do I cope? 

1. Fortunately, I have a very understanding partner who knows me better than I know myself (how annoying). He knows how to calm me down if things do start to get heated and he knows exactly what to say and do if I’m upset or having a down day. Everyday, the first thing I hear in the morning, and the last thing I hear before I sleep is how much he loves me. I know that will never change - boobs or no boobs. Our relationship is the strongest it’s ever been and he’s been my rock from day one. This diagnosis doesn't just affect me. It has affected the people i love dearly and will affect our future family. I am so very lucky to have found somebody like Sean. I guess this is also a harsh reminder that we are not invincible so we make sure we make the most of every single day we have together.

2. Positive thoughts! If ever I feel down I remind myself I can’t change this. Every day I remind myself how lucky I am to know my genetic status so young and be able to do something about it.

3. I surround myself with good, genuine friends. A diagnosis such as this makes you realise who your true friends are. The ones who if I’ve gone a little quiet, drop me a text, offer to come with me to appointments or simply take me for a cuppa (a pornstar martini if they know me exceptionally well). I think anyone who goes through something shitty can agree, quality over quantity when it comes to friends.

4. I started writing. When I first started drafting my thoughts and feelings I never intended to share it yet it was a good way of transferring thoughts from my mind on to paper, taking away a little of that stress I was holding onto. When Ovarian Cancer offered to share my story I was hesitant, but doing so has been massively successful in raising awareness and reaching out to others going through the same or similar.

5. Don’t decline help! When I was first diagnosed I refused further support and psychotherapeutic input. I’m not afraid to admit this was simply me being stubborn. “I don’t have mental health I’m fine I’ll get through it alone” - I now realise that this was an ignorant perspective to have. We all have mental health, including myself and it’s important to look after it the same way I now look after my physical health. 

6. I take each day as it comes. I don’t stress too much at the moment about my ovarian cancer risk or passing the genetic mutation to my children. This is all extra stress and I have locked it away safely in the back of my mind until the time is right to find out more information. Like my breast cancer risk, there are options for these also, however at this point in my life, it’s all about the boobs.

7. It’s okay not to be okay. My friend Danielle said this to me and it really stuck with me. It’s okay and perfectly normal to have a ‘down day’. If ever I have a day like this I make the conscious effort to look after myself. I make sure I get out the house, get a pedicure, take myself out for lunch or go to yoga/ meditation class (both of which I find very helpful to de-stress!).

8. Reaching out to charities and support groups. The world of genetics is a very lonely place and there’s little support out there particularly in the UK. Breast Cancer Care, Ovarian Cancer Action and The Eve Appeal have all been excellent in providing me a platform to raise awareness about BRCA but also to contact others going through the same. Unfortunately there is little in the way of local support which is something I plan to change when I have had my first surgery.

If there’s one massive lesson I learnt throughout my journey so far is that you truly do not know what people are going through. After I shared my story for the first time I had so many comments “You would never have known”,  “You are always so happy, I had no idea”. They are right. In the early days I cried so so many tears but all in the privacy of my own home or the nearest toilet! You never would have known.  Be kind to everyone as you really don’t know what is going on behind closed doors.

I had so many private messages when I first went public with my story. I’m always happy to natter and answer any questions. I’ve had lots of questions about the genetic testing process and how I came to know that I am BRCA2 positive which I will write about very soon.

All my love,

Jess x