THE BRCA1 CANCER GENE

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Following World Cancer Day I wanted to share this story about a side to Cancer that we tend to hear less about: discovering you have the BRCA1 gene. Laura Hyde  is in a uniquely complex situation, while on the one hand being ahead of the disease is a blessing, but how having access to genetic testing and preventative surgeries is a direct result of the fact that many of her family have not been so fortunate.

  • I have a dodgy gene….the BRCA1 gene. Made famous by Angeline Jolie no less. Sadly that’s where the similarities between me and Angelina end. 

  • Boiled down to statistics it means this. I have an up to 85% chance of developing breast cancer (compared to a 12.5% chance for the general population) and an up to 60% chance of developing ovarian cancer (compared to 1.5% – 2% for the general population).

  • I was 17 when my mum was first diagnosed with breast cancer. I was 28 when she was diagnosed with ovarian cancer. It was then then that the doctors suggested gene testing. 

  • My mum tested positive for the BRCA1 gene mutation. 

  • I was 29 years old, and 5 months pregnant with my first child at the time, but didn’t hesitate to get tested. 

  • I ploughed ahead with the genetic counselling and they drew the blood. Then I waited. 

  • I had this feeling that I was a carrier, so I didn’t fear the results. I just wanted it confirmed so I could start the early monitoring and testing offered by our wonderful NHS (grateful beyond words)

  • I had an understanding of genetic testing. My dad’s side of the family tested positive for the BRCA2 gene mutation. What are the chances?!

  • The results were in. I tested positive for the BRCA1 gene mutation. The only one to do so out of myself and my three siblings.

  • You might think I feel hard done by. I don’t. I’m grateful they don’t have to worry about this awful disease. I’m grateful they won’t pass a dodgy gene onto my nieces and nephews. 

  • There’s a 50% chance my two sons will have inherited my BRCA1 mutation. I hope and pray they’ve been lucky. 

  • I have every faith that by the time it becomes an issue for them to worry about the advances in science will deplete their risk.

  • I’ve found a wonderful community of support through Instagram. Fellow ‘previvors’ who know what I am going through. It’s been a lifeline on my down days, especially when I don’t want to burden friends and family.

  • My dodgy BRCA1 gene entitles me to careful monitoring by the NHS. I am under the care of both a breast consultant and gynaelogical consultant. 

  • I had my first breast MRI in Spring 2015, a few months after my son was born. 

  • The breast tissue in women under 40 is too dense to pick up changes through mammograms so MRIs are offered instead.

  • MRIs can be daunting, no matter how many you’ve had (and there’s been a few at this stage). Lying face down, with your forehead on one of those rests like they have on massage tables, with your boobs hanging free – it’s a comical image if you forget the fact you have to lie still inside a (very) noisy metal tube for up to 30 minutes. 

  • Oh, and don’t forget about the dye that’s injected into your arm about two thirds of the way through which makes you feel like you’ve wet yourself (I assure you, you won’t have).

  • It can feel claustrophobic. I still get ‘scanxiety’ every time I go. I learnt the hard way that taking deep breaths to calm oneself is not the answer (it made me move too much and they had to start the scan again).

  • The can results came back clear. Phew. I could breathe a sigh of relief, for a month or two anyway, before health anxiety got the better of me…again. I’ve worked hard to get a grip on this, and at the ripe old age of 35 can now manage my health anxieties, for the most part.

  • I had an eventful few years after receiving the results of my gene test.

  • I gave birth to my son

  • I had my annual MRI.

  • I moved house.

  • I had my annual MRI.

  • I suffered a missed miscarriage. And haemorrhaged. And had surgery.

  • I discovered I had a benign tumour on my kidney (angiomyolipoma).

  • I had my annual MRI.

  • I gave birth to my second son.

  • I was diagnosed with PTSD.

  • I started a new job, in fact, a new career. 

  • Then I reached spring of 2019. I went for my annual breast MRI. Only this time I was invited back, urgently. They had found a lump. 

  • It was buried deep in my breast tissue so I would never have found it myself. 

  • The doctor explained it may very well be nothing to worry about, but they needed to be sure. I immediately had a mammogram, an ultrasound and a core needle biopsy.

  • A core needed biopsy is when they use a needle to take a sample of the lump for testing – a process which was uncomfortable and painful, made all the more difficult because it was buried so deep. 

  • They also placed a clip on the lump so that in future scans they could track the growth and movement of the lump.

  • Then followed the two week wait for the results. The longest two weeks of my life. 

  • I was convinced I had cancer. Of course I had. I had the gene. This was the day I’d been waiting for.

  • It was a harmless lump – a fibroidanoma. Now my favourite word. 

  • But that was it, there was no way I was putting myself and my husband through that stress again. So I decided now was the time to move forward with my preventative surgeries.

  • I forgot to mention that, didn’t I? To reduce the risk of cancer, BRCA1 mutation carriers are offered mastectomies and removal of their ovaries to reduce the risk of developing cancer. 

  • Alongside the breast consultant I had started seeing a gynaelogical consultant. I had been having regular testing of the CA125 levels in my blood. 

  • High levels can indicate cancerous activity in the body, particularly related to ovaries. Ovarian cancer is notoriously difficult to detect on scans. By the time it can be seen it has already developed to an advanced stage. So doctors test your CA125 levels. 

  • My levels were higher than they should be.

  • The breast cancer scare, along with the rising CA125 levels prompted by decision to proceed with surgeries. Nothing like the threat of cancer looming over you to focus the mind.

  •  In July 2019 I had both of my ovaries and fallopian tubes removed (a bilateral salpingo- oophorectomy, if you want to get technical). There remains a risk that cancer can develop in the peritoneum, but this is small.  

  • At 34, with a 2 year old and 4 year old, I was in menopause. 

  • I had been referred to the menopause clinic before my surgery so I had my HRT ready to start immediately. 

  • It’s important for women of my age to have HRT to protect heart and bone health. Who knew oestrogen was such a wonder hormone? A colleague once mentioned that menopause took away women’s super powers. I’ve thought about that a lot since. 

  • My menopause symptoms have been manageable. But the hot flushes and hormonal sweats are a daily occurrence. 

  • Did you know your skin loses elasticity in menopause? I fear I will start to look older than my years before too long.

  • In Autumn and Winter 2019/20 I began the preparations for a double mastectomy and reconstruction. 

  • I met the plastic surgeon, had my photo shoot (as glamorous as you would imagine) and met with the psychiatrist. 

  • They insist you see a psychiatrist before surgery, and I can understand why. A part of my body will be removed and a foreign object put in its place. My breasts won’t be my own. They won’t look the same, they won’t feel the same. 

  • Of course I worry how it will affect my confidence. How it will affect my relationship with my husband. But my priority has to be my sons. I have to be here to see them grow. 

  • Summer 2020 I had my annual breast MRI. 30 minutes in the MRI machine, face down, this time whilst wearing a face mask at the same time. Anxiety levels high.

  • Then the envelope arrived. Bulky. Ominous. 

  • The MRI had picked up a lump. This time in my right breast, not my left. 

  • What were the chances that this lump was also harmless? Surely the odds were stacked against me?

  • Another core needle biopsy. Cell changes discovered. 

  • My ‘elective’ surgery was now essential. Sure, they could have just done a lumpectomy but given my situation the surgeon agreed the double mastectomy and reconstruction should happen now. 

  • So in August 2020 I had a double mastectomy and reconstruction. 

  • No breast tissue left. Just silicon. 

  • That lump they found? Pre-cancerous cell changes. I feel so lucky. And privileged. 

  • I could do a whole other blog post on recovering from the surgery and getting used to my new body. Maybe I will.

  • But for now I wait for the global pandemic to pass so I can catch up on all those recovery hugs I missed from my family and friends. And I run. And I play with my boys. And I enjoy the relationship I have with my husband. And I have a glass of wine. 

  • Oh, and I prepare for my 100km trek along the Cornish coast with CoppaFeel! It was supposed to be 100km across the Sahara, but you know, pandemic.

  • ***
** ‘BUT WHY… DO PEOPLE GET CANCER?’ IS ONE OF THE QUESTIONS I ANSWER IN MY DEBUT BOOK. I SOUGHT THE HELP OF EXPERTS, INCLUDE ONCOLOGY DOCTORS, CANCER PATIENTS AND CANCER RESEARCH UK TO GIVE SOME ADVICE ON WHERE TO BEGIN THAT CHAT.  ‘BUT WHY: HOW TO ANSWER TRICKY QUESTIONS FROM KIDS BY HAVING HONEST CONVERSATIONS WITH YOURSELF’?’  IS AVAILABLE TO PRE-ORDER NOW **

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