Claudia: "To all the doctors, nurses, administrative staff, volunteers and many other people who helped me, thank you all for saving my life – twice…"

After being diagnosed with two different primary breast cancers at age 52 and 59, Claudia decided to have genetic testing. After she found out she carried a faulty BRCA1 gene, she had to decide whether surgery to reduce her ovarian cancer risk was for her. She tells us her story.

"I was diagnosed with HER2-positive breast cancer in my right breast in late 2012. A radiologist saw an enlarged lymph node under my armpit during a routine mammogram. That led to a biopsy but no lumps or masses found anywhere. The diagnosis was ‘occult breast cancer.' This is where the cancer cells must have spread to the nodes but were too small to form a lump. The surgeon removed all the lymph nodes and out of 36, 6 had cancer in them. I had chemotherapy, radiation to my breast and neck, followed by a year of Herceptin, a targeted therapy used to treat HER2-positive cancer. I was very ill: I developed multiple blood clots in my lungs, I was hospitalised and had to have injections to thin my blood for months.

Roll on the end of 2019, when I was diagnosed with a second breast cancer on the opposite breast (this was picked up by a clinical exam) with a negative mammogram. I was in a terrible state and the oncologist said it was a new primary and triple negative.

At that point, my mind was a complete blur; you don’t think your cancer will return after a certain number of years but to find out, it was a new one AND in the opposite breast, was too much to deal with. I didn’t even want to have chemo again as I was so ill previously.

My treatment coincided with the first lockdown. I saw the changes the hospitals went through as I persevered with chemo and radiation. I was very poorly with chemo and was alone at home, most of the time having to change dressings & inject myself with various drugs, due to being clinically vulnerable and not able to mix with my friends & family. I could not deal with anything else other than trying not to get COVID and carry on with my treatment. I was treated at 5 different hospitals during the pandemic pre-vaccines. Miraculously I did not get COVID but my mental health suffered badly. I could not deal with the genetic testing at that point in time.

I did not really want to deal with it as I was too overwhelmed with all my treatment and anxiety during the pandemic. However, I was trying to rationalise the outcomes if I did not know (not just for me). There was no family history of cancer from my late parents and I did not know my grandparents or their history.

Personally, I would have liked a face-to-face consultation when discussing the options around genetic testing but it had to be done over the phone due to COVID. When I got the results my Genetic Counsellor explained all about the gene mutation but I still could not take it in properly. She then followed up with letter containing statistics and I agreed to be referred to a gynaecologist to discuss my next options.

Telling my family was very emotional as it had to be done by phone.

Everyone kept telling me that my ovaries were redundant but they were part of me, and any surgery has its risks. I have never had any issues with periods, bleeding or any gynae issues so I felt like losing these organs were part of my identity being taken away. Plus, my CA125 levels were low.

However, upon being sent for a pelvic scan, the radiographer discovered an abnormally thickened womb lining and a polyp – this put the fear of God in me, when she put me on a 2 week wait for a gynaecologist referral given my cancer history. The NHS were amazing, within days I got a call to see a gynaecologist and was booked in for a hysteroscopy.

I also did a lot of research with the various charities and FORCE (a US-based charity) were very good.

For anyone in a similar situation I would say: Do research, (plenty of UK charities offer support and information), speak with your family and your gynaecologist. I refused to rush into surgery but I realised by having it, that it was taking away my final risk due to the BRCA gene mutation. However, I was post-menopause so past childbearing age and didn’t have to cope with the implications of losing my ovaries and tubes pre-menopause.

It took a while to have surgery – in fact, it was cancelled 3 times before I had my bilateral salpingo-oophorectomy (BSO) surgery in June 2023. Again, my gynaecologist was amazing, I hardly had any pain (although the anaesthetic took a while to wear off) and histology was normal.

I am very fortunate; I had my child in my mid-20s so did not have to make such a hard decision, as younger women might have to make. What astounds me, is I have had this gene from the moment I was conceived, yet my first cancer was at 52 (but there is no way of knowing whether this first cancer (HER2+) was one that I might have gotten anyway OR it was because of the BRCA mutation. I have a lot of side effects from all the treatment, especially fatigue, anxiety, pain, and some lymphedema but I try and keep positive and be outside as much as I can. I also find the ocean gives me energy so on occasions, I take off down to the coast to embrace the sea!

I am currently involved in the EMBRACE trial which is following people with gene mutations like BRCA1/2 over a long period of time to learn more about the risks.

I can’t change my body, I can try and change my mindset but I also consider myself very lucky. Never give up, tell your body to keep fighting and get support/advice with the help of charities, Health Care professionals and your family.

I never caught COVID – but watching changes in the hospitals happening during the various stages of my treatments was very tough - the NHS staff that helped me through all of it did an exceptional job – and how difficult it was for them in the middle of the pandemic as I had surgery, chemo & radiation throughout 2020. To all the doctors, nurses, administrative staff, volunteers and many other people who helped me, thank you all for saving my life – twice…"

To read more about faulty genes like BRCA1/2, from genetic testing to risk-reducing surgery, head to our Hereditary Cancer Hub.

If you are worried about your risk of carrying a faulty gene, use our Hereditary Cancer Risk Tool to assess whether you might be eligible for genetic testing.