Maybe, someday: Living with a disease you may never get

Learning that you have a genetic predisposition to cancer can save your life. But the knowledge may be a double-edged sword, as it turns you into a lifetime patient of a disease you may never get.

Photo by Pavel Vanka / Flickr Creative Commons

Rachel Topping and her sister Julie were on holiday in Morocco when they discovered they were more alike than they thought: unbeknownst to the other, they’d each got the same tattoo in memory of their mum. “My sister had hers done in Latin and I had mine in Arabic, but it was the same wording: Live, laugh, love.” Topping grins, showing me the neat script on her back. “That’s like our family motto. Everybody says to live life to the max, that life is short. But unless you’ve got something hanging over you, it’s just a saying.”

The thing “hanging over” Topping (54), and two of her three siblings, is Lynch Syndrome, a genetic condition that (depending on the type) gives you a 20-80% chance of colon cancer, a 15-60% chance of endometrial cancer, plus a heightened risk of a number of other cancers. There is no physical manifestation of Lynch and carriers are completely healthy—it just means that the genes that suppress cancer for most other people are sleeping on the job.

Cancer is brutally common—half of us will be diagnosed in our lifetimes. Still, many people will look at a harsh statistic like this and shrug: there’s not much you can do, so what’s the use in worrying? But when cancer comes in family clusters, it’s different. If you’ve inherited the family tradition, this knowledge means you can get regular screenings and catch any cancer early, improving your chances of a good outcome. But emotionally it can be a major shock. You may well get cancer soon—what now?

For Topping, the awareness that the family genes have given the siblings more than their blond hair and bright eyes has given her a nudge to go and do the things she always wanted to do. “You never know if the next colonoscopy is going to reveal something. So if an opportunity arises, I do it,” she says. A personal learning assistant from West Sussex, Topping comes across as open and energetic, telling stories full of what-the-hell attitude. She’s seen Bon Jovi in concert 12 times, and she’s writing not just a book but a whole series. More than once, she uses the same phrase: “What have you got to lose!” Like when she took that trip to Morocco: “It was as far south as you’re allowed to go. We found a market where nobody spoke English. Julie and I had a smattering of Arabic from growing up in the Middle East. They were so confused by these two blonde women ordering vegetables in Arabic,” she laughs—sure, they had restaurant recommendations, but where’s the fun in that? 

Even before they were diagnosed about ten years ago, Topping and her siblings were close. “We’re there for each other when we need to be,” she says. “This knowledge has probably made us a bit more empathetic.” Photos from all over the world show the siblings’ similar faces grinning behind reflective sunglasses—the tallest in the bunch is her brother, Perry Leathers. Unlike his sister, he prefers not to think about Lynch: “I’m going to talk to you more than I’ve talked to anybody about this now,” he tells me over the phone from Nottinghamshire, where he works in printing. Leathers (57) comes across just as cheery as Topping, and you can’t argue with his logic: “What can you do, right? There’s nothing you can do about a genetic disorder. I’ve completely put it to the back of my mind.” Still, he’s not in any kind of denial: “It’s probably going to come at some point,” he says, shrugging. “But I don’t want to spend my whole life thinking about cancer. One day I expect they’ll find something, and I’ll bitch and moan about it then.”

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Medical testing for cancer-triggering genes is relatively new—it’s only been possible to get this kind of advance warning for the past 20 years. The conversation around it is mostly about cancer, but that’s not the whole story. A significant number of people will live with these conditions for years, or even their whole lives, never actually getting sick. 

When I was diagnosed with Lynch four years ago, the emotional impact had me reeling for years—I’ve always been healthy and never for a moment did I think that something like this could happen to me. When I got my diagnosis, my doctor told me to “eat well, exercise, avoid red meat, and take a daily aspirin”, before loading me up with leaflets for the endless invasive procedures that would be my life now. Afterwards I sat down outside the hospital, the sun glaring in my eyes, and asked a stranger to bum a cigarette. I didn’t even smoke, but all agency over my body had just been taken away from me so I lit one up anyway. Right then it was one small thing that I could still control. 

Everyone I spoke to in this article is in the same boat as me: we’ve been diagnosed with a genetic condition that may or may not give us cancer someday. If you’ve had cancer you might say we’re lucky, and in a sense, we are. But learning about my genetic condition was a watershed moment in my life. In a split second, everything changed. 

Sally Flitcroft keeps calling for her dog as we’re talking—Bella the springer spaniel loves to run, ideally in water and mud. But who can be mad at those big chocolate eyes? “She’s super bright and learns new tricks all the time, even though she’s almost eight years old,” Flitcroft (47) tells me as Bella is tearing through the woodland near her home in Stockport. “I’d always wanted a dog, but I thought I was too busy. But now I’ve got a dog!” 

Flitcroft adopted Bella from a shelter after she was diagnosed with Lynch—but really, who rescued who? “Bella has changed my life,” says Flitcroft, happily. The brown and white pup with boundless energy was only one of the many changes Flitcroft made after her diagnosis: “When I went back to work after my test results, I just felt so different, almost like I’d been given a second chance. I thought, ‘I’ve got to be happy in my life’. So I changed my job, sold my house, and didn’t look back,” she says, her voice full of conviction. Flitcroft, who was a nurse for 25 years, says her diagnosis gave her the push she needed to retrain as a clinical educator: “I would have just stuck with what I knew because it was safe. But I felt like life wasn’t safe anymore.”

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Lynch, like the breast cancer gene BRCA, is an autosomal dominant genetic condition: if one of your parents have it, you’re 50% likely to inherit it. They are more common than people realise: about 1 in 300 have Lynch (about the same as celiac disease), but most people don’t know they have it. But as opposed to tests for conditions like Alzheimer’s or Huntington’s, where there’s nothing you can do, knowing about your cancer risk gives you the chance to improve your odds. 

This fact can be a comfort after a positive test result, says Dr Anju Kulkarni, consultant clinical geneticist for HCA UK in London. “But I have definitely seen women and men who have struggled with the knowledge that they carry a mutation, and even though they have screening in place, that anxiety is overwhelming for them.” This is more likely to happen if the news came at a bad time, or if it was unexpected. This is why Kulkarni is sceptical of consumer tests like 23andMe, which aren’t just a fun game: if you’ve taken a genetic test on a lark to find out if you’re part Scottish, learning you might get Alzheimer’s can send you into a tailspin. This is why proper context and counselling is so important for genetic testing, says Kulkarni: “As human beings, we need to feel that we relate to somebody else when we’re going through something like this. If you’ve seen it in your family, it makes you feel less alone.”

Hugh Tallini (48) is one year younger than his dad was when he died. “I think about that a lot,” says Tallini, who was nine when he lost his dad. This set the tone for the rest of his life: “My dad was the third of three siblings to have died of cancer in their forties. I didn’t get my Lynch diagnosis until about ten years ago, but I’ve been living with the idea that this could be genetic since I was a teenager.” Tallini’s social media is full of photos of him flying small planes, doing loops and stunts: “I’ve done a fair amount of things that may seem dangerous,” he laughs. Tallini comes across as very thoughtful—he’s had a long time to think about all this and what it means, more than anyone else I spoke to. But while everyone says you learn to live with it, speaking to Tallini makes me realise that there may never come a day when I’ll truly know what to do with this information. We both laugh when we realise we’ve both been obsessed with risk and percentages, only to conclude that statistics don’t mean much to the individual: either cancer happens, or it doesn’t. 

A diagnosis of a “maybe, someday” disease is an impetus to act, but how? Tallini, who works in finance and lives in London, says it’s led him to be more conservative in his career, worrying about how a new employer might react to a cancer diagnosis. It’s impacted his relationships too. “I’ve wondered if I would go out with someone who’s got this condition? If someone is looking for a partner to dream of living together until their ripe old age, maybe I’m not the right person for that,” says Tallini, his tone devoid of self-pity—it is what it is. “Everybody just assumes you’re going to live to eighty but I’ve never had that assumption.” 

Tallini isn’t consumed with thoughts of mortality, but the knowledge does impact practical decisions. Should he be careful or take more chances? “When my cousin died in his early 40s, I went out and bought a very fast motorbike,” says Tallini, laughing. And should he save his money, or spend it all while he’s still healthy? “I might survive this, in which case I’ll want to have a pension!” 

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Even without illness, the worry that accompanies a genetic condition, and all the invasive and painful screenings and procedures, is its own trauma. Several of the people I spoke to said they were glad they were spared the burden of knowing about their condition when they were young. Then, in the next breath, they’d remember family members who died young, who might have survived had they had the chance to be “burdened” in this way.

Alice Ingle (21) from Cambridgeshire looks like any other student, with long brown hair framing a sweet face that looks far too young to be thinking about all this. But she was only 18 when she learned she’d inherited Lynch: “At the meeting they were like, oh you know, if you’re with someone and you can settle down, then maybe get going [with kids] so we can do the hysterectomy around 30,” says Ingle. “That really freaked me out. My boyfriend actually broke up with me, saying it was too much pressure.” Ingle sounds level-headed, but it’s clear she’s still processing what it means for her future. It’s difficult to bring it up with people at school, because most people have never heard of Lynch. “It’s a weird thing to talk about. People always say it’s better that I know. It’s like I have to look at it in a positive light. But it’s not a positive thing!” Ingle has decided to give herself some more time on the issue of kids and surgery. She has a new boyfriend who’s supportive, and she knows it’s possible to have a normal life, because her dad did—he didn’t learn about the condition until his 40s: “It’s made me more fearful for the future,” says Ingle. “But it’s not made me change my ideas of what I want.” 

Almost everyone I spoke to had a story about a jarring encounter with a medical professional. In her autobiography about being diagnosed with Lynch at 33, after losing her father to cancer caused by the condition, Jean Hannah Edelstein describes the doctors “who kept telling me to remove my organs”, not considering her a complete person and how disassociating it felt. “In that period of my life [when I was first diagnosed], I was nihilistic,” Edelstein (38) tells me when I call her. “I felt suicidal. I didn’t know what my life was worth now, it was just counting down until I got cancer.” 

Edelstein lives in New York, where I met her shortly after my diagnosis on a bench outside a coffee shop in Cobble Hill. At the time I was desperate to talk to someone about the emotional factors of a condition where everyone seemed to only want to talk about screening schedules. I felt alienated by the expectation to look on the bright side, because in that moment, it simply sucked. As we sat on the bench that day with her dog Martha between us, Edelstein told me that when she felt at her lowest following her diagnosis, she used to cheer herself up by looking at people in the street, wondering how many of those people would die of cancer before she did. “I was kind of being a dick, but it is the truth!” Edelstein laughed—in that moment, it was just the kind of dark humour I needed.

One of the biggest changes to Edelstein’s life came after those single-minded doctors suggested she consider in vitro fertilisation (IVF) with embryo genetic testing. “IVF had a huge physical and emotional impact on me, and it certainly impacted my relationship with my husband. But I now have a baby who doesn’t have Lynch. I’m very grateful that I was able to do this,” Edelstein tells me on the phone, happily—her son is named for her father. But she thinks there’s a clear lack of pastoral care around the condition. “For example, various people have told me that I need to get a hysterectomy, but no one ever talked to me about what surgical menopause might mean for me,” says Edelstein. “There was absolutely no acknowledgement that this could be something that I might wish to take into account.”

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If you thought you might have a genetic condition, would you get tested? A positive result could save your life, but also, it turns you into a patient long before you technically need to be. “It’s a difficult balance to strike, between turning someone from a healthy, happy individual into the worried person whose life is being negatively impacted,” says Dr Anju Kulkarni. But almost everyone participates in cancer screening eventually, whether it is smear tests, mammograms, prostate checks, or colonoscopies once past a certain age. And we’re all predisposed to something, whether we know about it or not: “Every individual will carry two or three mutations in their genes. It just depends what those genes are, and whether they actually lead to a high risk of disease or not,” says Kulkarni. As science develops, more people will be facing the dilemma of whether or not it’s better to know.

Just under a year ago, I was at a supermarket self checkout when I got a text message telling me that a friend had died of colon cancer. It was so advanced by the time doctors found it that there was nothing they could do—she didn’t have Lynch, and she was too young for standard screenings. I put my phone back in my pocket and finished scanning the cheese and crackers in my basket, thinking that statistically, it should be me and not her. When I first got my diagnosis, people told me it would get easier to live with it over time but I didn’t quite believe them—I felt so betrayed by my body. But something shifted for me that day, with that text message. For the first time I understood, not just in my head, but also in my heart, that there’s nothing certain in life for anyone. That’s not just for worse, but also for better.

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The reporting for this story took place between November 2019 and January 2020.

If you’re worried about cancer clusters in your family, talk to your doctor about a referral to a genetics consultant. There are a number of active support groups on Facebook such as Lynch Syndrome UK, and the BRCA1/BRCA2 High Risk Support UK or BRCA1 BRCA2 Genetic Ovarian & Breast Cancer Gene groups. In the US, AliveAndKickn is a proactive Lynch charity whose advocacy work includes peer to peer support.  

If you’re an editor who’s interested in publishing this story for a wider audience, get in touch.

Published by Jessica Furseth

Journalist; Londoner.