After tests show they have a high chance of developing cancer, more and more women are choosing drastic surgery in the hope of saving their lives

When Rose Hales mother was dying of ovarian cancer in the summer of 2016, Hale saw not only her mother, pale and thin in a hospital bed, but herself. Six months earlier, Hale, who is 33, married and has three sons, aged 10 to 15, discovered she carried the BRCA mutation, a gene that dramatically increased her risk of getting ovarian or breast cancer. Hales mother carried the same gene, but despite her own mother having died of breast cancer in her 70s she found out only after her own cancer diagnosis in 2015.

The oldest of four sisters, Hale was especially close to her mother, Christine. They lived a 30-minute drive apart in Derbyshire and were very alike: stubborn; fun-loving. Hale has a photograph of her mother laughing with a gin and tonic in her hospital bed. Hale admired her determination; Christine had meningitis as a baby, which left her profoundly deaf. Sign language was a part of their lives.

While she was in hospital, she almost always had an interpreter, Hale says except on the day the doctor came in with the results from her last round of chemotherapy. Obviously the doctor didnt want to say anything, but she was asking me, Tell him to tell me. I know somethings up. She kept on and on. The doctor told me she had three to six months to live. I had to tell her and to see the pain and hurt in her eyes. To tell your own mum she is going to die. This is the woman that created me, raised me.

Her mothers death was gut-wrenching. It also gave Hale a glimpse into what could await her: bald from chemotherapy; plugged into feeding tubes; her children red-eyed and anxious around her hospital bed as she drifted in and out of consciousness. My view was whatever I could do, I was going to do it, Hale says. Eighteen months later, she had her ovaries removed.

In the decade since testing for inherited cancers became available, men and women have been able to take drastic preventive action to save their lives. The BRCA gene mutation, first reported in 1990, puts women at high risk of developing breast cancer (up to 80%) or ovarian cancer (up to 60%); before its discovery, successive generations were wiped out and no one knew why.

More and more young women are getting tested and having mastectomies as a consequence, says Daniel Reisel, a research fellow in womens health and coordinator of the BRCA research clinic at University College London. The NHS does not have figures on the total number of preventive mastectomies carried out each year, but it does have information on the number of care episodes time spent under the care of a consultant. The data shows that, in England, the number of care episodes for patients aged 20-29 who had preventive mastectomies almost tripled between 2010/11 and 2015/16, from 22 to 58; for patients aged 30-39 it increased from 91 to 136. Women who test positive are offered surveillance an annual MRI scan for women aged 30-49, an annual mammogram for those aged 50-69 but the most effective precautionary measure is to remove the organs at risk breasts or ovaries at a young age. Having a double mastectomy can reduce the risk to less than 5%.

We are the ones who got lucky, says Charlotte Fischer, 31, who had a double mastectomy last October. We are the generation of women who get to save our lives. All of us are linked to women who did not get that chance.

Fischer is one of many young women I speak to whose families have been marked by tragedy. Lauren Bolus and Parm Nagras mothers died from breast cancer at 36, Nagras grandmother even younger; Charley Woods mother and grandmother died of ovarian cancer, at 51 and 62.

But Boluss mother unknowingly saved her daughters life from her deathbed. Mum told my dad and all her friends, Make sure Lauren goes and gets a test, says Bolus, now 24. My mum strongly believed something wasnt right, that cancer was in the genes. This was in 1996, when there was no test in the UK. But years later, in 2014, when Bolus was 20 and a history student at Sheffield Hallam University, she acted on her mothers advice and had the test. Two years later she had a double mastectomy. The nurses on the ward hadnt ever looked after someone so young, she says, adding, Shes still my mother even when shes not here. Shes managed to protect me.

***

To qualify for the BRCA test on the NHS, you need to have either a strong family history of cancer or a relative identified as a carrier. A blood sample is analysed in-house or sent off to a regional processing centre, and the results can take up to six weeks.

There was a surge in testing after the actor Angelina Jolie, a carrier of the faulty gene, wrote about her preventive double mastectomy in an article in the New York Times in 2013. Daily testing rose by 64% in the 15 working days following Jolies article, according to a study in the British Medical Journal. After six months, average monthly testing rates were still 37% higher than in the four months before the articles publication.

The test is a powerful instrument, with the potential to alter a persons genetic destiny. We are clever at testing, Reisel says, but are we as clever with what happens after? This is a new era of medicine, but the tools to deal with it remain rudimentary. In other words, invasive surgery. Having your breasts removed can be challenging to your self-image, he says, as can having your ovaries taken out before you have completed your family.

Carriers of the BRCA mutation can also feel they fall between two stools, Reisel says. They are not ill at least not yet. They have a statistical estimate that is both very theoretical and very real. You cant fight your genes. Its just part of who you are. They dont fit in the cancer community because they dont have cancer, they have an altered gene, Reisel says. But they also need help. None of us would board a plane that had a 50% chance of falling out of the sky and that is what women who receive this diagnosis feel they are facing. Little work has gone into understanding the impact of that diagnosis.

Reports on a recent study by Southampton University seemed to question the effectiveness of risk-reducing surgery as treatment for cancer in young women with the BRCA mutation. The study, published in the Lancet Oncology, found survival chances were the same for women with or without the mutation, whatever treatment they had. But the reports were misleading: the study did not look at preventive mastectomies. It doesnt relate to the effectiveness of risk-reducing double mastectomies in healthy women, Reisel says.

***

I had a really beautiful pair of breasts. I was not willing to die for them, says Charlotte Fischer, senior community organiser for the charity Citizens UK, who lives in London with her boyfriend, Daniel, who works for the same charity.

Fischer had the test in 2016 after a member of her family tested positive. Before the test, the genetic counsellor [who oversees it in the NHS] said, Do you know what you want to do if its positive? And I said, Yes, 100%. I want surgery.

Two weeks later, she was about to go into a meeting when her phone rang. A voice on the other end said, Are you sitting down? Then, Im so sorry. It was a moment of reckoning and sadness.

Fischer says she shouldnt have been surprised, because she is descended from Ashkenazi Jews, among whom the risk of carrying the mutation is 1:40 (a very high number in population genetics). The faulty gene can be traced back to founder mutations that have remained in communities because of the tendency to marry within the fold. Any community that has lived on an island, genetically speaking, can be at heightened risk, Reisel explains. For example, black women from Bermuda. The truth is we havent studied every community.

Head
Charlotte Fischer. Photograph: David Yeo for the Guardian

Women who test positive often bounce between GPs, hospitals, oncologists, surgeons, gynaecologists and counsellors. By chance, Fischers nearest hospital, Guys in London, has a pioneering monthly clinic with breast and plastic surgeons, counsellors, nurses and physiotherapists. It is very unusual and so helpful, Fischer says. The breast care team have a 24-hour phone line, which we must have called a hundred times post-surgery.

Fischer postponed surgery a double mastectomy with reconstruction for a year: I wanted time to come to terms with it. Making decisions, picking what sort of surgery, just preparing emotionally. She decided to create a ceremony to mark her transition to a life without breasts, inspired by her mother, Sylvia Rothschild, a British Reform rabbi who has created a large number of new rituals and prayers for events in womens lives. Fischer drew up a list of what you would do with your breasts if you thought you might not have them any more. The result was a three-week breast farewell tour of the topless beaches of Europe with her partner; a photoshoot posing as topless women from famous paintings, such as Delacroixs Liberty Leading The People; and a bye-bye breast party with nine close girlfriends.

Her mother helped write the liturgy and she read out a eulogy to her breasts. I wrote about everything wed gone through together first bra, lovers and things Id hoped to do with them that I wouldnt, like breastfeeding children.

Her partner took her out the night before surgery: But I couldnt eat. Id done the medium- and long-term planning. I hadnt done the short-term thinking of, gosh, Im going to be cut open tomorrow. But everyone was so generous. The anaesthetist asked what music I wanted playing. I said Beyonc, obviously.

Six months on, Fischers approach is all about perspective. I thought about the women I knew and loved who had dealt with breast or ovarian cancer. Some had died, some had not. But I had this unbelievably lucky opportunity, which is, at 29, before I got sick, I am hopefully not going to have to call my mum, partner or kids and say, guys, I am really sorry I dont want to be Pollyannaish, she adds. There are things I am really sad about I dont have as much sensation in my breasts; I will probably need more surgery in future; and I was only 29! But I have found real support, wisdom and sisterhood.

***

The thing is, you dont only own your genes, they are shared, Reisel says. Your risk of carrying the mutation jumps from 1:800 to 1: 2 if your sister, mother or daughter tests positive. In many cases, women with the mutation will tell you that members of their family dont want to get tested. Or dont want to test their children, or tell their children. So this can bring people together and tear people apart.

Anna (not her real name), who is BRCA-mutation positive, has sisters who have decided against being tested. They didnt want to know and live a life of worry, she says. I understand their decision: it is terrifying. But I disagree with it.

Her sisters think Anna is being overly dramatic having body parts removed; Anna thinks they are being selfish. The fallout is serious they no longer speak. Mums passing ripped the family apart, she says.

Experts want to know why the mutation causes cancer only in some women after all, the risk is not 100% and why specifically breast and ovarian cancer. The BRCA gene is present in every cell type in your body but the mutation doesnt cause, for example, bone or lung cancer.

Women
Whatever I could do, I was going to do it: Rose Hale (on left) and Charley Wood. Photograph: Fabio De Paola for the Guardian

BRCA genes are chromosome custodians, checking for copy errors in dividing cells. If you have a mutation in the gene, your safety mechanism isnt working. The BRCA gene mutation doesnt cause cancer itself, but it allows mistakes to creep in, Reisel says. The metaphor often used is of a spellchecker on a computer: if you dont have it, you might have a spelling error in your document. The limitation of that metaphor is, nobody dies. Reisel prefers to think of it like a Formula One pit stop where a crew change tyres and replace damaged parts before the car accelerates off again. If one of those screws is put on wrongly, when the car starts zooming around the track, it can career out of control and kill the driver. BRCA is like the pit stop in the cell cycle. When it works, it puts all the screws back on correctly.

For many women, having an altered BRCA gene means having to contend with a sword of Damocles, constantly worrying about whether they will develop breast or ovarian cancer, says Professor Martin Widschwendter, principal investigator of BRCA Unite, a recently launched study supported by gynaecological cancer charity the Eve Appeal. The aim is to understand key triggers what saves some women with the mutation and why and to develop non-surgical methods to prevent these cancers.

Testing for the BRCA mutation costs around 350 on the NHS, and a double mastectomy costs 3,800; with reconstruction, this rises to as much as 13,000, depending on the type of procedure. The total average cost of treating someone with breast cancer is 39,360.

Ranjit Manchanda, consultant gynaecological oncologist and clinical senior lecturer at Barts Cancer Institute at Queen Mary University of London, argues that both lives and costs could be saved by testing all British women over 30. This could result in up to 17,000 fewer ovarian cancers and 64,000 fewer breast cancers over a lifetime, according to a study led by Manchanda and researchers from Barts Cancer Institute and Barts Health NHS Trust, supported by the London School of Hygiene & Tropical Medicine. The current system works on the basis of clinical criteria of family history, he says. By that definition we are missing around half the people at risk. Its dependent on your knowledge of family history and communication with your relatives. How many of us know their cancers and the ages they occurred? How many doctors have that information? There is limited awareness on these issues.***

***

I sat there and said, Yes, Ill have a double mastectomy, thats absolutely fine, recalls Lauren Bolus, 24, a restaurant manager from Nottingham, on the moment she agreed to radical surgery. It wasnt until four months later, I remember sitting down with my grandma, going, I dont want to do this. Its a big operation.

Bolus had friends whod undergone cosmetic surgery, so talk of breast implants wasnt so strange. But while women facing a mastectomy often hear things like, At least youll have a free boob job, a double mastectomy and reconstruction is not the same. In augmentation, the breast is sliced open and an implant added to existing tissue; in a double mastectomy, all breast tissue is removed. The breast is then reconstructed with an implant to look as natural as possible. One of the women likened it to an eggshell with all the insides taken out; you have to put something back in. The procedure can take more than seven hours. Recovery time is three months. There can be rippling wrinkles in the implant that show through the skin because there is no breast tissue left to hide it. There may need to be more procedures, such as fat grafting to restore volume.

Lauren
Lauren Bolus. Photograph: David Yeo/The Guardian. All hair and makeup: Chloe Dixon

I absolutely loved my boobs, Bolus says. Her new ones have been problematic. At first they felt like two rocks. Now they feel normal, but there is still no sensation. Someone could be touching them and I would honestly have no idea.

The surgeon told her it could take a year for her body to settle. Its two years now and my mind is still coming to terms with it. When I first came round, I thought, Ive done it, its over. And then I saw how they looked. Shes had two subsequent surgeries to get the look right, she says. I had a very frank discussion with my dad recently. He said, Look, youve had the major surgery to save your life. Now please, stop.

Her dad was the first person she saw after surgery. I remember the look of relief on his face. When times are hard now and I feel a bit down, I just remember that look and think, that is why I did it. Getting tested was the best decision Ive made. Ive potentially saved my life.

Surgery can also be disruptive, particularly as many of these young women are self-employed or have unstable jobs. Hale, a shop assistant, could afford to take only just over a week off after having her ovaries and fallopian tubes removed. Her husband, a head housekeeper in a hotel, was unemployed at the time. Money was so tight, they had to go to a food bank. People probably think, Well, its only a week; how can you struggle that much in that time? But when youre on one wage for the five of us, you budget accordingly. You put money aside for food, rent, school dinners. And when that is taken away, even if its only for a week, it causes problems.

Charley Wood, 29, a self-employed podiatrist from Cheshire, had only a month off after her double mastectomy. I had to go back to work basically to survive and keep all my patients happy. She compares her situation with Jolies: She would have had everyone running around after her and no money or job worries. But when youre a normal person, its a bit more difficult.

I wasnt able to do anything. I was in bed, not being able to be a mum, and that really upset me, says Rebecca Nutley, 28, a merchandising coordinator, who lives in Bushey, Hertfordshire, with her seven-year-old daughter and her partner Jay, 31, an events manager. Nutley had a double mastectomy last August. Normally very physically active, she still cant run, because of the pain, and now mainly wears sports bras and baggy tops. Nothing feels quite right, she says. About three weeks after the operation I felt incredibly sorry for myself. I didnt want to see anyone. Then Jay said, You can use this to help people and all of a sudden it clicked. If I am like this and have all this support around me, and I am comfortable with myself, or I was, what are women going through who have no idea what is coming or how to deal with it, and dont have support? Nutley now posts about her surgery on Instagram (rebecca_nutley), where she answers questions on private message from women going through similar things. There is so much people dont understand, she says. She has raised 2,000 for the Eve Appeal and is planning a BRCA girls calendar.

Nutleys grandmother died of ovarian cancer at 57. Her mother was diagnosed with breast cancer at 36, ovarian cancer at 46 and cancer in the other breast at 49; shes had chemotherapy, a lumpectomy, hysterectomy and double mastectomy. Shes fine at the moment, Nutley says. Shes being monitored very closely.

Yet her mother didnt find out she carried the BRCA mutation until 2013. It was around the time Angelina Jolie spoke out and the surgeon decided to test her, says Nutley, who requested a test herself soon after. They refused because I was going through my divorce and they didnt think I was mentally strong enough. She went back last January, this time with Jay. The hospital called with the results four weeks later: positive. I thought, oh my God, what am I going to do? I dont ever want my daughter to see me go through what I saw my mum and grandma go through. Ever. I was absolutely horrified.

Of her double mastectomy, she says: The risk is slightly more if you keep nipples because they are breast tissue, so I had everything off. My daughter has already said to me, Can I have my nipples off? My mum did the same thing, so in a sad way its quite normal for her. But it was incredibly difficult trying to explain to her what Im doing and why. Nutley and Jay hope to have a child. Then I need to make a decision: do I want another one very quickly, or just go ahead and have the hysterectomy?

She has no regrets. I would do it again. I take the time to think about the positive things, the silver linings: I can wear a dress in the cold; I dont have to wear a bra.

Charley Wood, who found out she had the faulty gene when she was 25, also raises awareness through the charity Breast Cancer Now and provides advice and support through her blog They Are Not Twins They Are Sisters. When my dressings were taken off, I cried because my breasts looked strange, and the nurse said, Remember theyre not twins, theyre sisters. It is abnormal having your boobs removed at 26. All your friends are going out and having a great time, and I was sat in hospital with no boobs. You want to get dressed up and look good, and I didnt for a while and it did knock my confidence. But not any more.

Her mother died of ovarian cancer when Wood was 17. Twelve years on, it still hits her hard. Exams, university, getting your first house, things like that. You really need your mum. But because I lost my mum, I felt there was no choice.

In 2015, when she was 26, she had a double mastectomy. I wasnt really attached to my breasts, she says. They actually look better now. She plans to start a family with her boyfriend, Tom, a project manager, in her early 30s. She will have IVF and screen out the faulty gene through pre-implantation genetic diagnosis.

If there had been a drug to stop people having to do what Ive done, Id still rather have surgery, she says. I just feel a lot safer having the surgery and drawing a line under it.

***

Joanna Franks, consultant breast and oncoplastic surgeon at University College London Hospitals, feels healthy young BRCA mutation carriers can be subjected to enormous stress. Women come and they are told they have got this genetic mutation, and then they are told they have an overall lifetime risk of something like 80% of developing breast cancer. And sometimes that makes people so fearful, they think, Well, what Ive got to do is just have my breasts removed straight away and actually what they need to do is take a breath and think about their options. Alternatives, she says, are to do nothing Ive got the information; Im just going to park it or have regular monitoring. (The uptake rate of a risk-reducing mastectomy is 47%.) I always tell patients that on the day of the operation, they need to be able to look me in the eye and say, I understand what surgery Im having and why; this is the right operation for me, at the right time. Its hard, even when they are certain they want it. Its hard at any age, but if youre in a secure relationship and youve had your children, you are in a very different place.

***

Parm Nagra, 40, a marketing manager who lives in Sutton Coldfield with her husband, Billy, who works for a car manufacturer, was 34 and seven months pregnant when she discovered a lump in her breast. She went straight to her GP. He said, It is very common. It is an abscess. Ill put you on antibiotics. She returned six times before she gave birth. Each time he sent her away. By the time her daughter was born, you could see the lump through her clothes.

Parm
Parm Nagra. Photograph: David Yeo for the Guardian

At first her worries were eclipsed by her baby. But it became too painful to breastfeed and my midwife would not sign me off until it was sorted. The GP prescribed another course of antibiotics. The midwife said, Right, were going to A&E. So I went to A&E and they just took one look at me Nagra swallows hard. The cancer in her breast had grown to 10cm.

Her surgeon complained to the GP. He called me. I was very angry. I said, I came to you. He said, I wasnt to know. You are young. You were pregnant. I said, But I told you about my family history.

Nagra had six rounds of chemotherapy, a lumpectomy and four weeks of almost daily radiation. She wasnt expecting to last the year. My father was completely distraught. My mum was 34 when she was diagnosed. I was exactly the same age. She died two years later.

She believes she could have avoided all this if shed been tested earlier for the BRCA mutation. When she was finally tested and found to be positive, it was while having cancer treatment. I think I knew deep down that I had the gene, but I was hoping I didnt. When they told me, I completely broke down. I remember just screaming in frustration. I felt I had been through so much. But then I got up the next day and thought, this is what I have to do, so I made an appointment with my breast surgeon.

Nagra had a double mastectomy in December 2013. I had to wait a year because Id had the lumpectomy and the radiotherapy, and had burned my skin really badly, so they wanted to see if they could repair it. In the end, she was told her skin was too damaged to have implants, so she had a back flap breast reconstruction where an oval flap of skin, fat and muscle from the upper back is used to construct the breast. I was always very heavy-chested, like an F cup, so its a complete change and I absolutely dont care because its probably saving my life.

The cancer treatment was successful and the outlook is good. The chances are small, but I am still terrified it will come back and I dont think that feeling will ever go, Nagra says. She delayed having her ovaries removed because she wanted another baby, but unfortunately that hasnt happened. Her daughter is nearly six. If it was up to me, Id get her tested now, but it has to be her decision, of course. I want her to see there are options. Its not the end of the world. You can have the BRCA mutation and still live your life. I can have my breasts and my ovaries removed, and it wont change me as a person.

Commenting on this piece? If you would like your comment to be considered for inclusion on Weekend magazines letters page in print, please email weekend@theguardian.com, including your name and address (not for publication).

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