Sophie's story - BRCA2 gene mutation and her double mastectomy

Hi everyone, 

We recently shared two blogs from Sophie, who found out she had the BRCA2 gene mutation at 24 years old. Sophie's written about this experience, alongside her decision to have a double mastectomy and how this affected how she felt about her body. I hope you don't mind sharing the links to her two blogs here, in case you might like to read them:

We're always looking for guest bloggers to share their story on the Online Community, as we know how much it can help to read other members' stories. If you'd like to write about your experiences, please let us know at community@macmillan.org.uk.

Best wishes,

Eliza

  • Hi I’m Debra 57, I was diagnosed with stage 3 breast cancer in 2017 which had spread to 6 lymph nodes I underwent a mastectomy full node clearance, 6 rounds of chemo and 15 fractions of radiotherapy. I’d lost my sister to ovarian cancer in 2009 and an aunt had breast cancer in 2010.It was decided I had the test to see if I carried the brca gene: Sadly i was told I carry brca 1.I went on to have preventative surgery, my other healthy breast was removed and I’ve had a partial hysterectomy.

    Its been a complete roller coaster for me and although I’m clear of cancer and on letrazole, I try and put the cancer in the back of my mind and get on with my life.Its only now I’m able to talk about it. I do get stressed about it returning but also realise I’m very lucky, my sister was 43 when she died of ovarian cancer.

    Love to all you ladies out there be nice to hear from you 

    Debra x

  • Hi Debra 

    I don’t come online very often but noticed your blog and it resonated with me.  I just wanted to say I’m a BRACA 2 carrier. My family history is similar though I was refused BRACA testing (it’s easier to get tested now) & only found out a year after diagnosis because my Oncologist joined me on a research programme. I’d already had a L side mastectomy and a year later had R Mastectomy & reconstruction plus an oophorectomy. 
    I hope this helps because this all happened 11 years ago. Chance put me on the research programme and without that I doubt I’d be here. The point I’m making is that I AM still here 11 years on and wish the same outcome for you. Good Luck xx 

    2014 - Update

    BRACA2 diagnosed 2012 subsequent R Side Mastectomy ,bilateral LD Flap reconstruction2013 and Oophorectomy( removal of tubes & ovaries) Delay in diagnosing BRACA2 as refused testing. Felt so strongly about this I volunteered for Famililial Research Programme and discovered I was BRACA2 carrier 18months after treatment for grade 3 Breast Cancer. Felt very angry at the time.

    I wanted to have Dieppe Flap reconstruction as more natural and was opposed to implants. Unfortunately I had scarring/adhesions  from other surgery so this was not possible. I had never found a Breast Form that was comfortable as they all kept slipping over to the centre of my chest and peeping out of my bra. I was unable to wear stick on one's due to sensitive skin.

    I am now over 7 months post reconstruction and really still struggling with discomfort and ' iron bra syndrome'.  I've had physio for 'cording' that developed after surgery. I  regularly exercise, but despite this I am in constant pain. My plastic surgeon still says he is confident things will get better, but I don't share his confidence. No-one prepared me for this. I asked if I would be able to swim after surgery for LD Flap surgery and my plastic surgeon said ' yes as long as you don't want to swim competitively'  The result is that swimming is still problematic due to no back muscle and general weakness in my arms due to cording.

    I am not a defeatist and go swimming 3 times a week, but it is a real effort to do so and its no longer a pleasure - more something I feel I have to do to prevent me from seizing up altogether. At this moment in time I wish I'd never agreed to reconstructive surgery.

    I see my plastic surgeon again in Feb and will update after.

  • Hi Mags,sorry for late reply it’s been a while since I logged on.We have been through a similar experience. Unfortunately I was told I couldn’t have reconstruction and it was a blow I’ll say! My surgeon left no flap and I’m very slim so it was a no go to take flesh from my bum or somewhere else.I have slight cording and it still feels abut numb under my arm where lymph nodes were removed.

    Ive got some great knitted prosthetics for when I go swimming, a lovely lady I found online does them for free for us ladies minus our boobs.To be honest I’m now thankful I’ve not had reconstruction as my surgeon said if it did come back behind one it would be hard to detect.Im on letrazole which makes my leg joints ache but hey I’m still here and hopefully this cruel disease does not come back!

    Take care,

    Debra x

  • Hi Debra, It sounds like you have moved on. I’m sorry you haven’t had reconstruction but your consultants reasoning sounds sensible as Imoften wonder if implants would obscure secondaries. Did you ever try a swimming prosthesis? I got mine from the NHS but think that’s all been stopped now. 
    You mentioned ‘cording’ and I was referred to a ‘Specialist Physio’ at The Royal Free who worked hard and succeeded to ease my ‘cording’ I didn’t even know that’s what was contributing to my pain. It was such a relief. 
    I can’t remember how long you’ll have to take letrozole. I took a similar drug for five years and my consultant wanted me to continue beyond that, but I was fed up with the side effects. I remember the bone pain in particular. I do hope things get easier for you. 
    All the best.. keep ‘fighting the good fight’ I rarely think about cancer now.

    Mags x

    2014 - Update

    BRACA2 diagnosed 2012 subsequent R Side Mastectomy ,bilateral LD Flap reconstruction2013 and Oophorectomy( removal of tubes & ovaries) Delay in diagnosing BRACA2 as refused testing. Felt so strongly about this I volunteered for Famililial Research Programme and discovered I was BRACA2 carrier 18months after treatment for grade 3 Breast Cancer. Felt very angry at the time.

    I wanted to have Dieppe Flap reconstruction as more natural and was opposed to implants. Unfortunately I had scarring/adhesions  from other surgery so this was not possible. I had never found a Breast Form that was comfortable as they all kept slipping over to the centre of my chest and peeping out of my bra. I was unable to wear stick on one's due to sensitive skin.

    I am now over 7 months post reconstruction and really still struggling with discomfort and ' iron bra syndrome'.  I've had physio for 'cording' that developed after surgery. I  regularly exercise, but despite this I am in constant pain. My plastic surgeon still says he is confident things will get better, but I don't share his confidence. No-one prepared me for this. I asked if I would be able to swim after surgery for LD Flap surgery and my plastic surgeon said ' yes as long as you don't want to swim competitively'  The result is that swimming is still problematic due to no back muscle and general weakness in my arms due to cording.

    I am not a defeatist and go swimming 3 times a week, but it is a real effort to do so and its no longer a pleasure - more something I feel I have to do to prevent me from seizing up altogether. At this moment in time I wish I'd never agreed to reconstructive surgery.

    I see my plastic surgeon again in Feb and will update after.