Paula story : I knew I wanted to have children, but at the same time, I knew I didn’t want to be responsible for passing on a gene fault.

Paula found out about her BRCA2 gene fault after her mum was diagnosed with both breast and ovarian cancer. Here she tells us about her journey since, including surveillance, risk-reducing surgery and fertility treatment.

I guess you could say my journey started in December 2005; I returned home to Wigan from Edinburgh, where I had moved to in the summer of that year. It was Christmas, and I had just found out that my mum had breast cancer. At that point, I think I was relieved to finally know that it was something, as the wait from the biopsy to the diagnosis was horrendous. Your mind does terrible things to you in a time of uncertainty. Mum was lucky in the sense that she had a mastectomy, and the only treatment she required was 3 weeks of radiotherapy. She still has her tattoo dot; we joke that it’s a tattoo of Earth from space; she’s the first and only one in the family to get a tattoo.

Roll forward to Feb 2010; Mum hadn’t felt right and took herself to the doctor. I think she had used Google to check her symptoms as she requested the doctor give her a CA125 blood test, which the doctor did after Mum had presented her symptoms. It was while she was undergoing an MRI that a mass was discovered in her ovary as well as an undetected blood clot in her lung.

A plan was put in place for the treatment of ovarian cancer, starting with Clexane; then, in April, she started six rounds of Chemo at The Christie in Manchester. They were long days due to the chemo; we would have to be at the hospital at 07:30 for bloodwork and then wait for a slot for chemo to start. The type of chemo Mum was on, she’d have one type that lasted an hour, then there would be another type that lasted 3 hours. We were usually there for 12 hours. I used to travel down from Edinburgh every three weeks to take her. 

I went to see my doctor, and by then, I was living in Berwick upon Tweed. I was told that Mum would need to be tested before I could be tested.

By this point, both my grandparents had died, so Mum had to do some family searches and pull together all the relatives on both her mum’s and dad’s side and relay whether they had had cancer and what type. It turns out there was a history on my granddad's side.

I went back to my doctor for a referral to the Centre for Life in Newcastle to speak to a genetic counsellor. They took me through all the details and pros and cons of being tested. I went to get the results at the end of October; my husband came with me; we’d only been married for 3 months. I was 33 years old. I don’t remember being shocked when the results were read out; in my heart, I already knew. It was good to have it on paper. My motto then and still is now that to be forewarned is to be forearmed.

My sisters and brother all got tested. I am a triplet, all girls, and only I got the mutation out of the four siblings. My mum is also one of four—two girls and two boys—but only she and one of my uncles are BRCA2 positive.

I initially opted for surveillance. At this point, I had never had an MRI before and didn’t know what to expect. I did find it comical that I had cod liver oil tablets taped to my nipples for it, then a cannular fitted for the contrast dye. The overall experience was bearable. I also went for a mammogram. For the ovarian side of things, I was offered a blood test and ultrasound, though I knew this wasn’t reliable it was the only option.

I was pretty happy having surveillance despite my mum having both breast and ovarian cancer. I wasn’t in a rush to have any surgery; I guess I wanted time to digest the information.

In 2013, we moved back to Edinburgh, and I contacted the genetic team there to ensure my surveillance could continue; I don’t recall any issues with the process. At this time, I had also started to enquire about IVF -PGD.

In the BRCA world, this is a hugely sensitive subject, and I can see both perspectives; however, this choice was right for my family and me. In June 2015, we welcomed a son into the world. At this point, I decided I was fortunate to have him and didn’t want to repeat the process. The BRCA2 gene stops with me for me and my family. I chose not to breastfeed so that I could start surveillance again.

In December 2016, I went for a routine Breast MRI, and all went fine; the following day, I had a call back to say that they had seen something and I could come back for an ultrasound and possible biopsy. It was such a shock, and I burst into tears; until then, I had been okay with surveillance. It took until January for me to get the results of the biopsy; luckily, although I was doing surveillance, I already had a surgeon lined up.

He opened his calendar there and booked me for fat grafting before the “big operation”. I ended up having two rounds of fat grafting; I had never seen bruises like the ones I had before; even where the fat was injected into my breasts, I ended up with two huge bruises. I would be lying if I said it wasn’t painful; it was, but I didn’t let the pain dictate. I had the grafting on Friday and was back to work on Monday – I am not a very good patient. So the grafting was in April, then July and my double mastectomy operation happened in September. I opted for under-the-muscle implants. The worst bit for me is the wait before being anesthetised. I remember asking the anaesthetist to make sure I didn’t die; next thing I was waking up in the recovery room. I had a drain attached for 3 days, which was then removed. I was allowed home after 4 days. The staff at the hospital was excellent, and I felt very well-groomed. My recovery was pretty much unremarkable, and I had regular checkups with my surgeon and a further round of fat grafting in 2019. It was at this point that I found out that the type of implants I have are the ones that have been linked to breast implant-associated anaplastic large cell lymphoma (BIA -ALCL). My surgeon reassured me that there was a low risk of developing this type of cancer and gave me the symptoms to look out for. I still have the same implants, and I have not experienced any issues. Overall, my mastectomy story is exceptionally favourable. I am one of the lucky ones who hasn’t had any issues post-operation.   It was around 2018 when my surgeon referred me to the gynae department for my next round of surgeries. I wasn’t quite ready to let go of my ovaries at this point; I was only 39.

I opted for surveillance again, even though I knew this wasn’t a proven detection method; each year, I would see the Gynae surgeon, and I would say, “Not this year, maybe next year”.

I had been frightened at the menopause clinic about the risks involved: blood clots, heart attacks, etc. Only when I did my research, did I find that many risks are associated with the tablet form of HRT, not the newer body identical ones. I spoke with my gynae to find out what type of HRT they would offer me, and he said it would be the Mirena coil for progesterone and a gel called Oestrogel for the oestrogen. It was 2021, and I decided now was the time to get the next hurdle over and done with; in April of that year, I was in as a day patient and had my BSO (Bilateral Salpingo-Oophorectomy, the removal of both fallopian tubes and ovaries). The pain wasn’t too bad, and my cousin bought me a care package with lots of peppermint tea, which helped. I had stipulated to my surgeon that I was to have the HRT when I came out of surgery, which he did.

I feel fortunate; I don’t tend to dwell on the fact that I have a BRCA mutation. Life is for living, and that is what I intend to do; just like my Mum, she has had many obstacles thrown her way, but she gets on with it; she’ll be 79 this year and has been in remission since 2012.