Recognizing You Might Be at Risk
This part of the website focuses on what people we interviewed said about their genetic risk for cancer and how they reacted. Discovering hereditary risk can happen suddenly, for example, from a genetic test during the course of cancer treatment. For some people, it can come gradually for some people, as they learn about their family members’ past cancers.
A Family History of Cancer
Many people talked about their family’s history with cancer and how they related to their own discovery of genetic risk. In instances where someone has long known that they come from a family with a lot of cancer, their genetic profile may not come as a shock. Even a cancer diagnosis may be experienced as “the other shoe having dropped.” In such cases, learning about one’s own positive genetic test sometimes occurs within a context of having in some way expected it or (in hindsight) having avoided thinking about it. Gina describes knowing about cancer experiences of family members and says that her family routinely had discussions about this. Similarly, Mary says that she and her mom “pretty much knew” about their genetic risk even before being tested.
Asante’s mother’s early death from breast cancer had a big impact on how her own diagnosis felt.
Asante’s mother’s early death from breast cancer had a big impact on how her own diagnosis felt.
And when, you know, when I found out that I was diagnosed, there was a piece of me saying “oh, my goodness. I'm going to die.” And then in the back of my mind, I said “oh, no. You're not going to die. You're going to survive for your mom. I'm going to do it for her, and I'm going to be healthy, and I'm going to stay healthy for her.”
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I tried to map out a plan for her the best that I could. And ultimately, it just didn't work. And she didn't want to continue her treatment because she said if it didn't work the first time, why am I going to do it again? And I, we all respected that. And it was hard watching that. You know? And my brother was little. And so I thought history is repeating itself. Like, I have this beautiful baby that I waited for so long, and I'm now going to die? And so I said, “no. No, I'm not going to die. I'm going to live each life to the fullest. And I'm going to get my affairs in order.” And I feel like as much as people think that they have their affairs in order, until you think you're going to die, you have no idea what it really means to get your affairs in order.
Mary’s mother had uterine cancer in her 40’s, so Mary has always been concerned about cancer.
Mary’s mother had uterine cancer in her 40’s, so Mary has always been concerned about cancer.
Well my story probably starts with my mother who in the '70s was diagnosed with uterine cancer at [INSTITUTION]. She was 48. And at that time, they did radiation first. And then she had a hysterectomy, which at that time, she knew her grandmother had died of uterine cancer. And she also knew her great aunt had had uterine cancer. And she knew her mother was always worried about getting it. So it was knowledge in the family. Of course, at that time, we didn't know the genetic component. But we certainly suspected it. It just seemed unusual to have so many women with it.
Briana’s childhood experiences with her mother’s cancer made her fatalistic about her own future.
Briana’s childhood experiences with her mother’s cancer made her fatalistic about her own future.
I guess she got sick when I was eight. It was, it was a while that she was sick. And then, so I feel like my formative years were shaped by her being very sick, and having a very traumatic experience with cancer. So probably up until I was an older teenager, I just figured, oh, well, I'm just going to get it and die from it. There was no real understanding of like the physiology of the disease, and how it affects humans, or the genetics behind it. So I'd say it was, yeah, a really intense childhood view of cancer that led to a lot of fear. So then getting tested, and understanding the genetics and the risk I carry, and what I can do to minimize those risks, I guess, helps lower that fear.
Did you talk to-- I mean, was this cancer talked about in your family? Do you have other female relatives, or I guess male relatives, who might be affected by, by breast cancer?
Yeah. So we did talk about it. It was never something that was hush-hush, you don't talk about it, especially because-- I know some families, it's like ovarian cancer, and that's like, the woman parts, and you don’t talk about it.
Not everybody with a family history of cancer, however, anticipates their own diagnosis. Steve K. dismissed his family’s extensive care history because most if was in his grandparents’ generation, or affected people with whom he wasn’t in close contact.
Maria H. had several family members with cancer, but didn’t think the disease would impact her directly.
Maria H. had several family members with cancer, but didn’t think the disease would impact her directly.
I come from a family with 8 women and one man. We are nine in total in the family. My oldest sister, she had breast cancer. It was 10 years ago that she had breast cancer. Another of my sisters had like-- we didn’t really know if it was a cancer like enclosed, in situ is what they called it. But it seems that there was something in that. And I every year had a mammogram always as something preventive, knowing that I had a high risk to maybe to have cancer, although I always thought that I wouldn’t, not me, not that. Because the cancer of my oldest sister was for hormonal problems. So, I never took hormones. I didn’t use them and because of that I was absolutely sure that I wouldn’t get it. And well, that is what ended up happening to me.
Yo vengo de una familia de ocho mujeres y un hombre. Somos nueve en total en la familia. Y mi hermana la mayor, ella tuvo cáncer de seno. Y hace ya 10 años que tuvo cáncer de seno. Otra de mis hermanas tuvo como-- no supimos realmente si fue algún cáncer como encerrado, in situ que le llaman. Pero parece ser que había también algo de eso. Y yo cada año me revisaba mis monogramas muy-- siempre como algo preventivo, sabiendo que tenía un riesgo alto tal vez de tener cáncer, aún cuando siempre consideré que yo no, a mí no, eso no. Porque el cáncer de mi hermana la mayor fue por cuestiones hormonales. Entonces, yo nunca tomé hormonas. No los usé y yo por eso estaba plenamente segura que, que eso no me iba a pasar a mí. Y bueno, así fue hasta que me pasó.
Some people who we spoke with described family dynamics that resulted in information about cancer or cancer risk not being shared. In PSM’s family, to protect children from the painful loss of people from cancer, the motto was, “…don't talk about it, because it just upsets everybody, and so you don't ask questions.” Ronnie’s father was not close to his family and thus she doesn’t know if her cousins who had breast cancer relatively early in life were ever tested. Chelsea didn’t know about the amount of cancer in her family until after her own mutation was identified and she created a family tree.
Lisa J. talks about how even though her mother died from breast cancer when she was a child, it wasn’t until she had a benign cyst removed in her 20’s that “it became much more real,” and she started thinking about her own risks, and how she would handle a cancer diagnosis.
Learning from Family, Learning about Yourself
A number of people we interviewed described how the experience of learning about a family member’s positive genetic test or cancer led to their own realization that testing might be a good idea. As Jack summarizes it, “Why would I ever have known there was Lynch Syndrome unless my niece, who's a medical professional, had a father who was dying of colon cancer? My brother, I don't think had any reason to do it.”
Joan describes that she and all of her cousins got tested after a relative in their generation was diagnosed with cancer. Cynthia’s generation was tested in order to inform future generations upon the recommendation of a family member’s physician who took note of her family history.
Heather wasn’t initially sure what to do about testing after learning about her mother’s Lynch syndrome diagnosis.
Heather wasn’t initially sure what to do about testing after learning about her mother’s Lynch syndrome diagnosis.
My parents called us and said, we need to have a family meeting. And this would have been in 2011, so the fall of 2011. And so we showed up to this family meeting, and that is when my mom kind of explained all this to us, and that she had gotten tested and had just gotten her results, and she tested positive for Lynch syndrome. And it was this huge shock. She was very distraught about it, understandably. You know, but I think my brother and I approached this family meeting thinking someone was dying, because we'd never had a family meeting, and I must have been you know, 26 years old or something at this point. So it was very alarming. And so to us, it was a lot more like, “OK. So are you OK?” And her answer was like, “Well, yes, but I carry this thing, and there's this 50/50 chance-- because it is a genetically-inherited condition—that, that you guys might have it.” And we were kind of like, “OK, no big deal. So you're fine.” She was like, “Yeah, I'm OK.” OK. So at that time, we had a lot of conversations about whether we were going to opt to get tested. And it was a complicated situation because we didn't really know much about Lynch. We didn't really know what it meant. And at that time, all of the literature on it kind of said that you have these increased odds of developing hereditary cancers at an early onset age, which was kind of identified as like 40-ish for colon cancer, predominantly, which is what most of the literature was at that time. And here I'm sitting here at 26 …... And we were kind of like, well, gee, we don't really need to worry about this for 10-plus years. Maybe we just kind of sit on it and see what happens.
The cancer experiences and deaths of family members were often an important part of how people came to discover their own elevated risk of cancer. Paul’s mother told him and his siblings to get tested after her own cancer diagnosis, “The actual beginning of the story is my mother being diagnosed and [uh] telling all of us kids that it's [uh] it’s a familial issue and that we should all get checked out.”
Family is not only relevant in terms of looking back. Children and future family are also often an important context for genetic testing, and interpreting results, particularly during childbearing years. Learn more about this in the section Thinking about the Future.
Changing Medical Knowledge
Changing medical knowledge or treatment guidelines were sometimes relevant for people discovering their own genetic risk. New medical understanding encouraged testing among some people who thought that there might be a genetic contribution to their own cancer or to that of family members.
Irina had been advocating for testing for years, but wasn’t tested until NIH guidelines changed.
Irina had been advocating for testing for years, but wasn’t tested until NIH guidelines changed.
So, I was again, looking, and I saw that. But BRCA1, BRCA2 genes are linked to breast cancer, and later they were linked to ovarian cancer, but not fallopian tube cancer. So I was talking to my doctors, and that's like almost 10 years ago now, and they all were saying, “Well, no it's not related, it's not related. We can't really test you for that,” because I was asking to be tested. And then again, with just the time and research that was published, and things that were, that became more accepted by the medical community. The new guidelines from NIH came out, I want to say 2015 or maybe 2014, where, first of all, they kind of grouped ovarian cancer and fallopian tube cancer together. Because a lot of times, doctors can't really-- they don't really know what it is exactly. It's somewhere in the area, especially if it's spread. They call it and they treat it the same, and the prognosis is very similar. So they combined them. And they also found enough links for the Ashkenazi Jewish population, that they're more likely to have that mutation. So, and I am an Ashkenazi Jew. So and that was enough, after those guidelines came out, that my doctors, “Well, OK, we're going to test you.” Well, they sent me to the genetic counselor first. And I went to the genetic counselor, and I was with a different insurance company at the time. I just feel like I’m an atypical patient, a little more knowledgeable in the area. So the genetic counselor, I don't think, was quite prepared for me. But anyway, I got tested, and I am BRCA2 positive.
Joan surmises that experience would be different for people with elevated risk today than it was for her. While she was tested for Lynch because of a family member’s colon cancer several years ago, she thinks the information that people routinely fill in at the OBGYN now would be likely to identify a risk for Lynch syndrome.
The Long Process of Discovery
Many people said that the discovery of their own genetic risk was not necessarily an immediate or easy process. Some, like Mary, said their doctors dismissed a family member’s cancer as irrelevant until they themselves were diagnosed with the same cancer. Some people described extensive health issues or concerns that they had been struggling to understand (and to cope with). Often people were having to advocate strongly for themselves during this time – to press for answers, and challenge perspectives that did not align with experiences.
Steve Z. had experienced severe symptoms for at least a year before his colonoscopy revealed extensive polyps.
Steve Z. had experienced severe symptoms for at least a year before his colonoscopy revealed extensive polyps.
Can you talk a little bit more about getting the results of the colonoscopy, and what that news was like for you to receive?
It wasn’t bad. I mean, I knew something was wrong.
Based on your symptoms?
Yeah. I mean, I felt terrible. I couldn't get through my day at school, because I was going to the bathroom-- at that point-- 25 times a day. And I wasn't even eating. So it was good to finally get a you know, this is what it is. And then my local doctor said, “all right, you should go down to [LOCATION].” And at the same time, sharing with my friend. He's like, well, you need to see my doctors.
Yeah.
So even when I got the diagnosis, I think it was almost a sense of relief. All right. I know what it is.
Yeah.
And manageable. You know, it's not like, you got all these polyps. You're going to die.
Right.
You have these polyps. You're going to get your colon out first. And then we'll go from there. And then each thing will go from there. So-- I don't know.
Right.
Yeah.
So it wasn't a shock?
If I did, it was a shock that I actually went to the doctor's-- you know, that I even went and checked. Because I'd gone a year feeling this way. I didn't think anything of it. I could have easily gone another year. I was getting used to going to the bathroom. You know, it certainly wasn't a good situation. But I mean, how often do-- I would never. I'd get a card in the mail, and my wife would say, hey, you gotta call, or, yeah, I'll call. Or, hey you gotta call. And he never called. It's just a little card.
Yeah.
So, I mean, the fact that I did it was a big deal. I would just-- I always lived with it for a while. And then I would have probably not lived very long with it. So that's what they said. They said if I'd gone another year, it would have been past the point of being able to help you. So, it was good. It was a good call on my part to call that phone number.
Were you seeing a PCP-- a primary care provider--
Yeah. I was-- yeah.
And talking about the symptoms, and the--
We had, but we were talking about diabetes.
Got it.
So it never even entered my mind that something else was wrong. Hey, how you doing? Ah my stomach hurts. You know, and- and when you read the list of side effects for metformin-- for my diabetes-- you know, that's part of it. Everything that was going on was a side effect of the medicines I was taking. So I didn't think anything of it.
Mea was frustrated by the extensive testing required to identify her syndrome.
Mea was frustrated by the extensive testing required to identify her syndrome.
OK, it was like they kept testing me for regular things, like simple things that everybody else gets, and they it kept coming back, you know, ‘nothing's wrong, nothing's wrong’. So at one point, the doctor said, “we're just going to send you to [LOCATION], and this is in [LOCATION], and they can do more testings and, offer more things to you.” And so, you know, I went back and forth, and they did testings and colonoscopies when they take biopsies and pieces out. And I did that for a few months. And then, one time I went up there, and they were like, “we're just going to test you for rare genetic things.” And then, I would say about two or three days later, they called me, and they were like, “you tested positive for FAP.” But it was a lot of testing going on, a lot of, you know, biopsies, colonoscopies, blood work. It was frustrating to me, because I wanted to know what was wrong. And, they didn't want to do the surgery, until they figured out what was wrong. They didn't want to go in there and start messing around with things. And so [LOCATION] ended up finding out exactly what it was after extensive blood work, and testing, and all that good stuff.”
Family members also often played an advocacy role during times of uncertainty – before full discovery. In Sue’s case, her big brother first started to think that there was a genetic issue for their family, “At, around that time, my brother who was very smart, of course the older brothers are always very smart, [um] started to talking to the doctors and apparently there were genetic markers in the 3 different tumors that he had had that all kind of lead back to perhaps this being a genetic condition.”
Reactions to Test Results
When talking about their discovery of elevated genetic risk, or a genetic syndrome, people we interviewed often reported their emotional state or reaction to the news. Sometimes this was tied to a cancer diagnosis, and the fact of the cancer itself, more than the genetic risk, seemed to most impact emotions. This was not, however, always the case. In relation to discovery of genetic information specifically, people expressed a range of emotions, from “a big shock” to fear to expressions of relief or empowerment.
JanLynn was shocked to discover her genetic risk, and hypervigilant afterward.
JanLynn was shocked to discover her genetic risk, and hypervigilant afterward.
I had requested a copy of lab reports and things like that. When I got back to my hotel room, because interestingly enough, my daughter had surgery scheduled the next day, I was reading through the paperwork and read that I had Lynch syndrome, but I had not been told. And I had no idea what that was. So I looked it up, which was always a bad thing, but it was evening. So we-- my husband and I looked at information about Lynch syndrome and then called the next day to say, “you know what is this?” And I was not told that I was being tested. That apparently, it's some routine tests that's done. Only genetic testing is not routine to me.
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And it's being constantly-- trying to be constantly aware of what is going on with your body, which is not something that I did before so. And you worry about everything. Every little ache, every little pain, every little spot, if you've gained weight, if you've lost weight, if you've, you know, don't feel well, if you get sick. You know, it could mean a host of things that you don't want it to mean. So you're hypersensitive and hyper-vigilant, which I don't want to be, but it's hard not to be.
Ronnie describes feeling sick, even when she wasn’t.
Ronnie describes feeling sick, even when she wasn’t.
So yeah, it’s like you have to manage another set of cancer risks even though you don’t have it. So like, there were all these days when I was actually healthy but the fear of that and that news, it makes you feel very sick even though I wasn’t.
Ginny reports that people in her family have been fairly reassured to hear that having a gene mutation shared by family members does not mean that cancer is inevitable; they also know that finding out about genetic risk makes aggressive surveillance possible. Matthew states that “knowledge equals power.” In a similar way, Becky describes her testing results in very positive terms, stating that she was “happy to be empowered with knowing to be on the lookout.” Bobbie describes her decision to have genetic testing in order to reduce uncertainty, feeling that it was “the best thing for me to know rather than wondering.” Charlene talks about how for her the genetic testing was like solving a puzzle – no more reasons to wonder about the causes for various health issues.
Not Getting All The Information You Need
Several people talked about how they were not given all of the important information that they needed at the time of genetic testing. Another issue raised was that people were not necessarily able to absorb information that they were given due to their emotional state about the results of the genetic testing. Heather describes her clinician as giving her a lot of information in the initial visit where she learned her results, spending an hour going over in detail her genetic profile and the cancers for which she is now at elevated risk.
After her BRCA testing, Lisa S. didn’t have the information she needed to make decisions.
After her BRCA testing, Lisa S. didn’t have the information she needed to make decisions.
And I knew that there was a chance of some gene that can be dispose me to having cancer called BRCA. So I spoke with my doctor about that and I said, you know, “Should I get tested?” This is about three, no this is five years ago. And I said, “Should I get tested?” And she said, ‘Well, why would you want to do that?” Well, gosh darn, that was pretty unusual because I worked in a clinic and I was surprised by her response. But I thought, “Well OK if I don’t really have to do it. Then I guess I won’t.” And so I didn’t and I waited. And then there was an article in the New York Times and it was probably the Angelina Jolie.
Oh yeah.
I think it was that. Or maybe before. There was also one about Ashkenazi Jews and it was talking about how it’s 1 in 40 for BRCA, to be positive for the gene. So I decided to ask her again if she would put me in for genetics and I decided to go test, thinking, of course, I was invulnerable. I'm healthy. I'm not going to have any problems. This is nothing. My mother didn't know if she was positive or negative because there was no test. So I'm just going to do it because, you know, just get it out of the way. I'm going to be negative anyway, you know. So I went, and I took the test. And lo and behold, I found out at work, because you can look in your own chart. And I was on shift, and I found out, and it says “Positive.” And I started to cry, not really understanding enough more than I knew that I would have to deal with stuff. Ugh, it was a bad day. So I spoke with a geneticist. And she gave me information. And I can tell you later on how I felt about that information, which I didn't think it was enough information. I didn't really understand what I received. I didn't know what I needed to do.
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But the geneticist didn't really explain to me what I should do about here, which left me with a whole lot of, “Oh, well, I guess if, I should-- I'll just do nothing because, you know, I’ll, that's fine. I just took my ovaries out I should be safe.” I didn't know. I didn't know. Gosh, I didn't know. Or maybe, I don't know. I felt like I should do nothing, which is what I did. I monitored, which is fine. I monitored until the day that I went for a mammogram last April, and I was told I had DCIS, which is non-invasive at that time. But they never know until they go in there, and they do the surgery. 50% of the time, it could be invasive. And at that point, it was like, “Oh, I guess I have choices to make.” And I'll tell you about that but. And so I did a double mastectomy.
Thomas spoke up in the hospital when he felt that doctors were not telling him what was going on.
Thomas spoke up in the hospital when he felt that doctors were not telling him what was going on.
Four doctors came and talked to me. And they pretty much came in, you know, said they name. I told them I'm [NAME], shook my hand, and they walked out. Four teams of doctor. The fourth doctor that came in was the head of the three of the doctors that came in. I guess he, he ran the whole hospital. OK. So he came into talk to me, shook my hand, and said, “I'll be right back.” I never let his hand go. I held his hand and I said to him, I said, “Doctor, you're the fourth team that came in here to talk to me. Shook my hand, looked at me, and you walk away.” I said, I know you have more important patients in here than me. He turned around and looked at me, and he put his other hand on top of my hand, and he said, “[NAME].” I said, “Yes, Doc?” He said, “How old are you?” I said, “I'm 41.” He said, “OK, the reason we had the four doctors come in here is because your chart and what we see in you right now does not add up.” Your age, who you are, and then you look younger than what you're telling me. So here's the situation.” He said, “You're 41. You have 51 polyps in your colon. One of them is already stage three cancerous.” I think stage two or stage three, going into stage three. And he said, “And you're only 41. This type of situation I've only seen from 68 to 90-year-olds. So you are my important patient.” And he walked away. I stood there. I couldn't think, I couldn't, it was like everything was just moving in slow motion. It was like, when he walked away, it was like the whole world panned away from me, and I was just left there with this information. And I couldn't think, I couldn't move. I was just blank. And the person that was with me, she couldn't say anything either. You know, so I was just left there in this world on my own for this moment, trying to figure out what happened. How? Why? So while I was in that mode, he comes back into there and they start asking me about my health. And while he was asking me that, I'm just looking at my world crashing. That's all I thought, was everything that I worked so hard to get to at this moment, driving the Coach bus, doing what I love to do is about to be ripped away from me. Somehow I got to get ahead of this.
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So not only that I'm going to the cancer center place to get CAT scanned, to get blood drawn, to get scanned again to see if everything is OK, I also have to go and get scoped so they can remove the polyps. This is what makes mine rare. I develop the polyps that turns to cancer. This is not something that, “Oh, it's only going to happen once in a while.” This is for the rest of my life. That's the hereditary.