Mother knows best

In 2004, when I was 48, I was told I had breast cancer. The tumour was removed, chemotherapy and radiotherapy followed, and I got on with life as so many of us do. There was no history of breast cancer in my family, so I knew I was just unlucky; one of those statistics. At my five-year check-up in the summer of 2009 my oncologist felt a lump, this time in my other breast. It was very small (one centimetre long I later discovered) and I couldn’t feel it at all, even as I was being wheeled into the operating theatre; it hadn’t shown up on the mammogram either. It was a grade three, indicating that these cancer cells were of the fastest growing variety, just like the first, but this time it had spread to two lymph nodes. I was grateful that my oncologist, who feels around 50 pairs of boobs a week, had such super-sensitive fingers, and I dread to think what the prognosis would have been if another year had passed before my next check-up.

I have three children, Merlyn then 19, Jenny 15 and Richard 13 and three sisters, so as frightened as I was by those words “you’ve got cancer” I wanted to make sure they never had to hear them. I asked my oncologist for help; perhaps I could be tested? He told me that as there was no history of breast cancer in the family, there really was nothing to worry about; the vast majority of breast cancers are random. My cancer was random? I wasn’t convinced. About that time my first cousin, who had had ovarian cancer three years earlier, was told that she had breast cancer. It was particularly aggressive, and she died in November 2009. She was 46. So now, I guess, I had ‘history’ and I would receive more intensive screening, perhaps a blood test, yes? No. It was a ‘no’ because my two breast cancers and my cousin’s death still didn’t constitute ‘history’. ‘History’ meant that someone in your immediate family had had breast cancer; a first cousin didn’t count. It’s not often I feel desperate about things, but I felt desperate then. All my instincts told me the so-called experts had got it wrong and that I shouldn’t follow their advice and put my cancers down to bad luck. I needed to know more. I turned to my GP and asked him to help me get some form of screening and, within two weeks, he told me that Dr Ajith Kumar, who specialises in cancer genetics at Great Ormond Street Hospital, might consider me for participation in a national cancer study. Would I like him to refer me? As if he had to ask. Soon I was sitting with Emma Williams, a genetic counsellor, building a picture of my family to see whether there might be some links to cancer, however remote. Building this picture took quite some time as my dad was one of 14 children and my mum one of seven, but no one, except my cousin and me, had had breast cancer. Most of my aunts and uncles are alive and well and in their 70s and 80s. (My mum and dad died in their 50s, both of heart disease, but perhaps mum, had she lived longer, might have developed breast cancer.) She also introduced me to the BRCA1 and BRCA2 genes. These genes are associated with familial susceptibility to breast, ovarian and prostate cancer. If they function normally, they protect the body from cancer developing; if they are faulty, then that protection is lost. 80-90% of women with the BRCA1 gene mutation develop breast cancer and between 40-60% develop ovarian cancer. As one copy of each pair of genes is inherited from our mothers and one from our fathers, if one parent has a faulty copy of the BRCA1 or BRCA2 gene, then there’s a 50% chance that they will pass on their faulty copy and a 50% chance they will pass on their normal copy. If a child inherits the faulty copy, then they will not only be at increased risk of developing cancer as an adult, they will have the same 50% chance of passing it on to each of their children.

Once Emma had collated and considered all this information she said the family history wasn’t strong enough to put me forward for a breast cancer gene test, but I could participate in a national study called The Genetics of Familial Breast Cancer Study. This Study was looking for data that might show why people have a predisposition to breast cancer. It also involved a blood test to test for anything and everything. It was January 2010.

I knew it would be some time before I had any results but as the months passed, I’d finished my cancer treatment and I’d still heard nothing from Emma, I assumed no news was good news. I felt pleased with myself though; I had done everything in my power to try and identify if there was something, anything that make my family and me more susceptible to cancer, now I must be in the clear, which meant my kids would be too. Then, 12 months later, in January 2011, on my eldest daughter’s 21st birthday, I received the phone call from Emma: I had a faulty BRCA1 gene.

Well, I had wanted to find out if there was a reason for my breast cancer and, against all the odds, and contrary to all the received wisdom, there was. My immediate and natural reaction was to cry my eyes out because I knew that one, two or all of my kids could be carrying this gene defect. Telling them would be difficult, especially as the most effective method of reducing the risk of cancer is to have a bilateral mastectomy and your ovaries removed in your 30s. My eldest daughter Merlyn was in her final year at university and Jenny and Richard were at school, so I decided that, for a little while, I would play God and withhold this information until their exams were over. I did tell my sisters straight away and then started talking to our cousins as they would now need to be checked for the BRCA1 gene as we finally had ‘history’.

I began to fret about my non-disclosure. What if one of my children should develop cancer and it spreads? I talked to my doctor, my surgeon, my sisters and my closest friends about whether I should say something or keep schtum. Some agreed I was doing the right thing: why worry my kids unnecessarily when they have years before they can do anything about it? Others thought I was the personification of evil: how could I put my children at risk by keeping this information from them? I knew that the girls would have breast screening from 30, so there was time, but they needed to know. Despite my best intentions, I bottled it on at least a half a dozen occasions. I’d wait for us all to be together at Easter, on summer holiday, at Christmas, but the moment was never right. Then in June 2013, just over three years after I learned I was BRCA1, we were in the living room about to watch a film and I knew this was the time. I was so nervous it was untrue, but I told them as calmly as I could about my diagnosis and what this might mean for them. I didn’t go into too much detail, but suggested they meet Emma for a more in-depth discussion about BRCA1 and their options. Although I truly didn’t know what to expect once I’d told them, I didn’t expect the reaction I got. Merlyn was 23, Jenny 19 and Richard 17 behaved with the maturity, dignity and understanding that would put a Shaolin monk to shame. They took the news on board, seemed fine with it, but I guess I’ll never really, truly know how hard it actually hit them.

A couple of years earlier Merlyn had confided in me that she felt she’d get cancer too and just wanted to have a double mastectomy and avoid going through chemo and everything that goes with it. Although I’d worked through my treatment both times, trying to behave as normally as possible, being a bald, nail-less insomniac with chronic diarrhoea wasn’t much fun. Now she was certain she had the gene. Jenny also thought she’d have the gene as she’s so like me: we were both timid as children, not very sporty, loved reading and being indoors. She felt like she was a newer version of me, and this was history (there’s that word again) repeating itself. She wished I’d waited longer because ignorance is bliss, and felt she had a cloud hanging over her. But she understood why I had to tell her now. Richard, on the other hand, felt a little distanced; even if he had the gene he wouldn’t be screened for prostate cancer until he was 40 and 40 to a 17-year-old is a very long way off. We chatted for an hour or so about the ramifications of a positive diagnosis, then we agreed they needed to talk to their friends, if they wanted to, and my kid sister who’s like their second mum. I thought it was important they should feel entirely free to touch on any and every subject, so it would be better if I wasn’t there.

After a week or so, they said they’d like to meet Emma and find out more. I set the meetings up and, unlike me, they all went in there fully informed and probably already knowing the answers to the questions they asked. Merlyn wanted the blood test as soon as possible, but Jenny wanted to wait a while as she didn’t want the diagnosis to interfere with her studies. Richard was too young to take the test but would take it when he was 18 (he’s 23 now and still hasn’t).

Merlyn had her test and Jenny changed her mind and decided she should do the same. We’re a very close-knit family, so it didn’t surprise me at all that they then made a pact to tell each other their results at the same time. When Merlyn went to get hers from St Barts in London, I went too. It was good news; Merlyn didn’t have the faulty gene, so her risk of breast cancer was now similar to the population risk. We looked at each other and just hugged. No tears, just happiness. We were both so relieved we decided to celebrate by having lunch in Covent Garden at our favourite restaurant. Merlyn posted a picture on Instagram and innocently broke the girls’ pact. Jenny realised what this meant but said nothing.

When Jenny was home from university I asked her when she was going to take the test; she told me she already had, at the beginning of April and got the result at the end of May. She had tested positive for BRCA1. I don’t know whether I was more shocked that I was so out of the loop, saddened by the result or concerned that she did this on her own. As Merlyn didn’t have the gene, there was a strong chance Jenny would, but your mind doesn’t work that way does it? You always hope for the best, think you’ll buck the trend. She explained that as she already knew Merlyn was in the clear, she probably wouldn’t be and my presence would only make the next stage more emotional, so she took a girlfriend instead. That evening her friends, who all knew about me, the test, the result, took her to the pub, where they spent hours discussing her options; what a brilliant response, what brilliant friends.

The focus of our discussions has moved on to more ethical matters. Jenny wants children, but she doesn’t want to burden hers with this gene. The science exists to test an embryo and destroy it if it has the gene, but what if I’d done that to my wonderful daughter? She wouldn’t be here and wouldn’t have touched our lives in the wonderful way she has. But she is here, she may never develop breast cancer, she may not pass the gene on, so perhaps playing God in this case is wrong. Jenny will have the option of preimplantation genetic diagnosis (PGD). The initial steps of PGD are similar to IVF. When the embryo has grown it can be removed without causing any harm and tested for the altered BRCA1 gene. Only healthy embryos are put back into the womb, usually not more than one at a time. If more than one embryo is available for implantation, these can be frozen for use at a later date. You never really know how you’ll react until the time comes and that time hasn’t arrived yet, but at least now Jenny is equipped with the facts that will help her lead a long and healthy life. She will have a risk reducing mastectomy and, eventually, have her ovaries removed, which will also reduce her risk of developing breast and ovarian cancer. She will be screened every year from 30 until she’s 70. She now has control of a potentially life-threatening situation. If I’d listened to the ‘experts’ both my daughter, as well as other members of my family who have since tested positive, wouldn’t have the benefit of knowledge and the control that comes with it.

When I set out to protect my children, I wasn’t even thinking about gene mutations, I just knew that there’s usually a reason for everything and you’ll find it if you look for it. I found BRCA1 and as much as I wish I hadn’t, my extended family and I are the safer for it. The moral of this story? Never take “no” for an answer or as I prefer to say, ”mother knows best”.

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