Evolving Genetic Science

The science of using genes to diagnose health conditions and plan medical treatments is growing rapidly. This means that medical knowledge about genes and cancer is changing all the time. The new science is exciting to many people, but because so much remains unknown, people still experience uncertainty about their risk or their condition even after receiving test results. For example, those who are diagnosed with a genetic disorder that is rare may find that little information is available about their condition. Some people may find that even with genetic testing there is no clear pathway to treatment for their condition. And still others may learn that they have a change in a gene, but science is not currently far enough along to tell them what this genetic change means.  In these situations, there may be as many questions as answers about the information people receive from genetic tests. This part of the website explores the uncertainty people we interviewed have experienced as they have gotten tested, gotten diagnoses diagnosed, and learning learned about treatment options.  

 

Dr. Xavier Llor, Yale University, explains how the science of genetic testing is continually changing.

Dr. Xavier Llor, Yale University, explains how the science of genetic testing is continually changing.

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The evolution has been extraordinary and just so, over the past 10, 15 years. So, we started from the inexpensive test where we were guessing what the gene could be, what the defective gene could be, according to what the patient and the families were showing. And then if that test was negative, we were considering of going to a different test to check for another gene who could be-that could be responsible for that process. So that was expensive and often time consuming because we were not finding mutations in the initial trial. So, this has evolved to you having more genes that are responsible for diseases as we will learn from and those genes packaged within tests are now encompass a number of genes that are being tested at the same time. What we call multi-gene-panel test. These are now the ones that are-we are commonly using. They allow us to really test for differing genes that can be responsible for similar cancer susceptibility and therefore they really let us to be much more efficient in terms of diagnostics. So, that has really revolutionized how we do genetic testing. And it has allowed us to really be much more efficient when it comes to genetic testing. So, changes are happening, they are happening fast, and the capacity of these panels to incorporate new genetic defects that we are learning every day, that are responsible for cancer susceptibility are easily incorporated. And that also led us re-check patients who are tested several years ago and some of those genes who were not discovered by that time yet, so we can go back to those individuals who tested negative at that time and double-check, see if those new mutations that have been discovered are actually the ones that are causing their cancer predisposition

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And so again I think that whatever that information two years ago, it’s already different nowadays, and probably in two years it’s still going to be different. Therefore, it’s an active field that we really need to make sure that our patients do understand that our knowledge keeps evolving and we need to really keep in touch with our patients so they can actually benefit from the new knowledge.
 

 

Dr. Jennifer Weiss, University of Wisconsin-Madison, explains genetic variants of “unknown significance.”

Dr. Jennifer Weiss, University of Wisconsin-Madison, explains genetic variants of “unknown significance.”

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In genetic testing, there’s three possible results: you can have a positive result, a negative result, and a variant of uncertain significance. A positive test result, which is counterintuitive to what everyone would usually think-- people think positive is good, but it actually means that we found a mutation that we were looking for. It means that we found a harmful mutation in the genes that we were testing. A negative test result, which is usually associated with bad, actually is a good thing for us. It means that, we searched all through your genes, and we found nothing. The results were negative --we did not find a mutation, or a harmful mutation, to explain your family history or your cancer risks. So I just want you to keep that in mind as I go on to kind of describe what genetic testing is and what variants of uncertain significance are.

And what is variance of uncertain significance?

So, genetic testing can be thought of as like a spell check for DNA, and the genes can be thought of as book chapters. So, when we’re reading our genes, when our body is reading our genes, they’re the instructions to tell our body how to make certain proteins. And the book chapters are the words that are telling our body what to do. Spelling mistakes can occur in these words and in these chapters. So, that’s what genetic testing is doing-- it’s looking for spelling mistakes within these book chapters. The spelling mistakes can be big, or typically harmful, which could be deletions, duplications of whole entire paragraphs within that chapter, that then cause a problem with the body’s understanding of the instructions. And the end result is just something that doesn’t work. You could also have very small changes, or very small mistakes within these book chapters. And some of these can actually be benign, or non-harmful, and just go into making us the unique individuals that we are. So, for example, in America, the way we spell the word “color”-- we spell it as “c-o-l-o-r.” In the United Kingdom, they spell the word “color” “c-o-l-o-u-r.” Neither of these is technically wrong, they’re just different. So that’s an example of a benign, or non-harmful, change-- you still know what that word means, you can still interpret that word within the context of that book chapter, and get the same end result. Another type of change, or spelling mistake, would be these variants of uncertain significance. And, this is where I think it’s a little bit confusing for people to understand, but just think of it as if it’s a word that you’ve never seen before, and so you don’t know if the spelling is correct or incorrect. We don’t know, if you read that word, if you’re still going to be reading it correctly, or if it’s a mistake that’s in a very small, unimportant part of the chapter. Or, if it’s a mistake that’s in a really big part of the chapter where the intended meaning of those instructions are completely changed, based on this small change. So, what happens with these variants of uncertain significance is that genetic testing companies over time will continue to gather more and more information about this change, or this spelling mistake in a gene. And their goal is to eventually reclassify this variant as either a variant of “known significance,” meaning that it’s potentially harmful, or a variant of “no known significance,” meaning it turns into a benign situation where this change actually doesn’t impact how the gene is interpreted, or the instructions are read. Over time, the vast majority of these variants get classified as benign, or non-harmful, but it does take time for all of this information to come together. So, as clinicians, when we have a patient with a variant of uncertain significance, we need to think of them within the context of their personal and family history, and not whether that variant is present or not present. So, for example, if I had a patient who came to clinic, and they had a father and a sibling with colorectal cancer below age 50, and no known hereditary cancer syndrome has been identified in the family-- we do the genetic testing, and I find a variant of uncertain significance. I would still tell that patient that they need to have earlier screening than the general population for colorectal cancer, and more frequent screening than the general population, regardless of whether that variant of uncertain significance was in that gene.

Having a Rare Condition

A number of people we interviewed talked about what it is like to have a rare condition.  “There’s not really much about [polyposis syndromes] that people know about,” said Heidi; in fact, relatives of hers have been among the first with the syndrome to be seen by clinicians where they live. Lainey says there are no good statistics about her specific cancer because there are so few people affected. Ginny notes that  relatively few people with breast cancer have an identified genetic link, and of those with such a link even fewer have the particular mutation she has.  Eve says her mutation is “not as well studied as other stuff” and “pretty new as far as medical discoveries go.”

 

Paul says when it comes to having a rare condition, being special is not always great.

Paul says when it comes to having a rare condition, being special is not always great.

Age at interview: 46
Cancer-Related Experience: Cancer
Type of Inherited Risk: A polyposis syndrome
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My condition is considered rare, in that less than 7,000 people in the US are affected by it, which is a pretty small number. I mean, there are plenty of people who need to have their stomachs removed for various other reasons. Most of the people I see online are complications from bariatric surgery or the, is it CDH1?

Right.

So that’s mostly what I see.

Yep.

So even within the subset of people who have to have gastrectomies, I still don't see myself reflected very much in that.  So yeah there’s this idea that being special is not always great. There are some times when it's nice to be special, and there are sometimes when you'd like to be less special. So, and that's also another reason for having to be your own advocate, is that there's not a lot of information available for my condition. Because few enough people are affected by it, but then even fewer people also develop stomach issues. So there's much less information about that. So yeah, and I think you and I talked about earlier-- even speaking to medical professionals, when I explain to them what I have and what I've had done, they're usually kind of taken aback.

 

Eve says she is rare, maybe because other people have not yet been tested.

Eve says she is rare, maybe because other people have not yet been tested.

Age at interview: 40
Cancer-Related Experience: Cancer
Type of Inherited Risk: A polyposis syndrome
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It's something that is, you know, that only one in 250,000 people has or something like that. Yeah, that would be a zebra.
But that one, or that…
Right, it's me. Yeah.
…that zebra can be. When you when you first heard that word, did you-- how did you feel to say, ‘oh, I'm a zebra?’ Do you identify with that kind of sense of something rare?
Being rare? No, I don't, because I've tried to not to let it overtake my whole life.
Correct. Yes.
But I mean, now that I'm thinking about it, yeah, I am. I am rare...You know, it may, once genetic testing becomes a big thing in the American public, it may only be one in 25,000 instead. And I guess I feel like, when I'm when I’m up on myself, that I am rare in good ways, so that I could be rare in, you know, kind of detrimental ways, too. Again, well, it's not it’s not totally detrimental, but it, you know, it has been, sometimes.

Watching New Science from the Front Row

Many people we interviewed talked about how new things being learned by doctors and researchers which had a direct impact on them, and also about things that are still not understood.  PSM, who has Lynch syndrome, said “They know a lot more about that now, as opposed to what they did” years ago, but they’re still “learning too [and]… the process never stops.”  Other people spoke specifically about things that remain a mystery, or are “a work in progress,” about their cancer or cancer risk.  

 

Ginny tested positive for a genetic mutation often connected to higher cancer risk, but her clinicians didn’t think her particular version of the mutation was relevant for future screening and treatment choices.

Ginny tested positive for a genetic mutation often connected to higher cancer risk, but her clinicians didn’t think her particular version of the mutation was relevant for future screening and treatment choices.

Age at interview: 61
Cancer-Related Experience: Cancer
Type of Inherited Risk: Identified breast cancer mutation
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You know, I'm trying to remember. I think it was after I was diagnosed that they put us in touch with the genetic counseling center. And they said, “we think you're odd enough as a family that we should do some testing.” [NAME], I think, paid for the BRCA1, BRCA2 type test. And then, when my mother and I came along, all of a sudden it was kind of a family cluster. They said, we want you to have this testing. They did find a gene in common that they referred to as PALB2. And they described it as, it pals around with BRCA2. And it's kind of interesting, interesting, because at the time they said, “this is a finding of unknown significance.” And then they came back a year later and said, “this is a finding of no known significance.” So they change sort of their mind, there. They're basically saying, “it means you're related. We don't think it has any bearing on the fact that the three of you have breast cancer.” And they made that determination because I have three other sisters. And so their question was, “do we be tested? Do we get treated differently?” And all three of them are on a more cautious regimen. They get twice yearly, alternating mammo and MRI. Two of the three, I think, are on an anti-estrogen. So they basically came back and said, there's no real reason to get the test, because no matter what it tells you, we don't know what it means to begin with. And secondly, it wouldn't change how they treat them. They're already on the preventive level of treatment that they would get anyway.
Because of the higher family risk?
Yes. Right.
Just the evidence that there's more risk?
Just the evidence. And so they can't really say it's that gene. So even if any one of them had tested positive, they would come back and say, “well, we don't know what to tell you about that gene, because we just don't know enough.”

And how did that feel to you, to get that sense of unknown significance or no known significance? Like, that kind of grey area?
I'm kind of a scientist, so I understand. I would not want them to extrapolate and tell me that it means something if they don't know that it does. I appreciated the follow up letter the following year that said, we've changed it from unknown to no known, because that means something to me. It confused the heck out of my mother. She didn’t understand what any of it meant.

 

Irina says eventually science caught up with her questions about hereditary cancer.

Irina says eventually science caught up with her questions about hereditary cancer.

Age at interview: 45
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: Identified breast cancer mutation
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Yeah, I mean, I wasn't really, but I was curious if there is any research. And at the time, there was not. Because I talked to my mom's doctors back home, and I talked to my doctors here, and they all said, “No, there is nothing that is known that connects breast, ovarian, fallopian tube cancer, well any of that.” And if it was a breast cancer, and if it was like generation to generation, even without knowing the mutation, doctors knew that they couldn't put their finger on it, but they knew there must be something that is hereditary here. So that wasn't my case, so they were, like “No, no,” but eventually the science caught up.

Some participants talked about how “really intense childhood views” of cancer, based on limits of medical care that have since changed, made getting a diagnosis harder.  Others described believing or hoping that the next generation will be helped as “research develops and they find out what is associated with… other markers” or genes. A number of our interviewees remained worried that the science is not good enough yet to make them confident about protecting their own kids or even knowing what their children “ought to be worried about.”  

People we interviewed also described how guidelines for testing and treatment are still developing as knowledge grows.  Joan noted that she goes to specialists regularly to “see if there’s anything new on the forefront, new discoveries.” A number of people described having additional tests as new genes are discovered, hoping that more information will either help prevent new health problems for themselves, be useful for other family members, or both.

 

Steve Z.’s clinicians keep offering new tests and he keeps saying yes.

Steve Z.’s clinicians keep offering new tests and he keeps saying yes.

Age at interview: 50
Cancer-Related Experience: Elevated Risk
Type of Inherited Risk: A polyposis syndrome
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So they went into the genetic testing piece. They still couldn't be sure of why. They ruled out FAP. I don't even know-- polyposis is the last one. I can't--
Right. Polyposis syndrome?
Yeah. So they didn’t have enough information to say that you have the gene for that, or that you don't have the gene for that. So they treat me like I do. They don't really have an answer of why my colon had all those polyps, because gene-wise, it doesn't look like I have that genetic makeup. So that's where-- they find new genes all the time, so they’ll call me up and say, “hey, do you want to get-- do you want us to run your stuff again just to rule this out?” I always say yes. It doesn't really impact-- you know it's good to know. You know, obviously, the kids went through it, so.

 

Joan has been tested for numerous genes related to her multiple cancers and cancer risks.

Joan has been tested for numerous genes related to her multiple cancers and cancer risks.

Age at interview: 63
Cancer-Related Experience: Cancer
Type of Inherited Risk: Lynch syndrome
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Well, I guess I would look at the breast cancer, first of all, and say, OK, in the beginning I was tested for one particular gene. Then, over the years, I was tested for more genes. And then, just recently, I was tested for another whole set. So they keep-- the more they study, the more they have people like us to put the pieces together. And now, they're talk-- so there's some chatter about breast cancer possibly being connected to Lynch. Now, that's new. That wasn't something that was at all talked about when I was first diagnosed in either of those. And it’ll be fascinating to see what, if any genes, they do have that are somehow related to breast cancer.

Several people pointed out that doctors can disagree when it comes to evolving knowledge, or that some doctors and hospitals have more up-to-date knowledge and capacity than others.  

 

Susan wishes she had realized earlier that care for rare conditions is better some places than others.

Susan wishes she had realized earlier that care for rare conditions is better some places than others.

Age at interview: 71
Cancer-Related Experience: Cancer
Type of Inherited Risk: Lynch syndrome
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Absolutely, I wish I had known earlier that medical care varies so much in terms of the knowledge, capacity, capability, and of- knowledge of available resources, as it does…I also think that the public health networks are good at developing data. But I think it's very hard to move the data, and for instance, the awareness that medical treatment will vary, depending on whether you go to a regional hospital or you go to an academic medical center. They’re very [um] - They have some difficulty in communicating that to the public. And I don't think they want to communicate that to the public. So I don't think the general public really knows about what information is out there.

Limits and Promise of Science

People we interviewed described, in various ways, coming up against the current limits of science.  As Steve K. put it, “we don’t know everything about genes;” and Susan said people “really need to know” more.  Gina described her doctors finding a “strange mutation… but we don’t know what that means.” Kim said she sometimes worries that there is so much focus on unanswered research questions about causes that not enough is left for finding cures.  Several people noted that their doctors, or they themselves, are “a little frustrated” that there are not more answers to important questions.  Others talked about having “a lot of hope” about what science is learning or trusting science as a process of “peeling back God’s creation” that may lead to gene repair cures in future.  

 

Paul says his syndrome is so rare, treatments are not available like they are for common diseases.

Paul says his syndrome is so rare, treatments are not available like they are for common diseases.

Age at interview: 46
Cancer-Related Experience: Cancer
Type of Inherited Risk: A polyposis syndrome
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I guess maybe I would try to get more a little bit more specifics on what to expect-- like, what realistically, what further complications, what areas should I focus more on being worried about, you know, as far as I would worry about anything that hasn't made itself known to be worried about. But what areas-- because I know that there are some other areas that the that the syndrome can affect. But, you know, should I have my thyroid scanned once a year? Yeah, I mean, it's considered to be a rare complication. But again, to me, what does that mean? The whole condition is rare. So the word tends to lose its meaning. It's like a semiotic association-- if you say it enough, it loses its meaning. So what does what does ‘”are” mean to me? You know. So I guess, in that aspect, I would-- that would be interesting to talk about. Because even these doctors, they're doing their best with the information they have, but with so few cases to work with, it's difficult to know. You have somebody who's diabetic-- well, OK. You're type 1 or type 2. This is what happens, these are the treatments that are available. There's many treatments available, many different things you can do. You know. There are insulin pumps, blood sugar monitors, lots of different types of insulin. There's many different things you can do. With this condition, unfortunately, there's just not enough-- not enough people affected by it. And also, the conditions that don't affect a lot of people also don't get the money for research that other things might get. Which is understandable. You’re going to research the things that affect the most people.
Right.
So I mean, that’s under-- I don't begrudge that. I don't feel like I'm being slighted in any way. But, you know, it's a fact that, so yeah.

 

Susan is frustrated that improved protocols for treatment aren’t used everywhere.

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Susan is frustrated that improved protocols for treatment aren’t used everywhere.

Age at interview: 71
Cancer-Related Experience: Cancer
Type of Inherited Risk: Lynch syndrome
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I have learned throughout all of this that just because some researchers in one university have decided that there's a better protocol for treating a condition, that information may take years to get to the family physician. And in my father's case, he probably would-- he could still be alive today. Let's see, could he still be alive today? Well, he probably could have been alive until maybe 10 years ago. He would have been in his 90s then. But he could have lived into his 90s rather than die in his 60s, I think, if he had simply had a physician who knew that given the location of his colon tumor, his colon cancer tumor, he would have needed chemotherapy as well as surgery. But medical information is not disseminated as quickly as changes in the law.

A number of people are particularly eager for science to help protect their children and grandchildren.  Some are also frustrated that it isn’t solving problems related to their mutations even faster.

 

Thomas is frustrated with the pace of research.

Thomas is frustrated with the pace of research.

Age at interview: 47
Cancer-Related Experience: Cancer
Type of Inherited Risk: A polyposis syndrome
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We done surpassed telecommunications, we done surpassed space travel, we done surpassed all of this stuff, computer technology. You got cars that can drive themselves, brake by themselves, even park themselves. And you mean to tell me we're still dying from cancer because you all only put in 2% of what you're getting into the research? That's what makes me mad. And the politicians think that cancer patients are dumb because we didn't go to college. Man, I'm going to tell you something. When you get cancer, that's the motivation to make you do research.We done surpassed telecommunications, we done surpassed space travel, we done surpassed all of this stuff, computer technology. You got cars that can drive themselves, brake by themselves, even park themselves. And you mean to tell me we're still dying from cancer because you all only put in 2% of what you're getting into the research? That's what makes me mad. And the politicians think that cancer patients are dumb because we didn't go to college. Man, I'm going to tell you something. When you get cancer, that's the motivation to make you do research.

 

Janet S. is angry that the ATM gene might affect future generations in her family, and research is slow.

Janet S. is angry that the ATM gene might affect future generations in her family, and research is slow.

Age at interview: 55
Cancer-Related Experience: Cancer
Type of Inherited Risk: Identified breast cancer mutation
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I'm a self-professed control freak. So to think that something that far-reaching into the future is that far out of my control just makes me, it just angers me. I just don't think-- I hate to sound like a little toddler and say, that's not fair, but that just does not seem fair. That just does not seem fair. And because it is less common, there is very little known about it, because there's very little research done on it, because the numbers drive the research.

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So if the greatest expert on your kind of cancer, or even the ATM, walked through your door, what would you ask her or him?
The first thing that pops into my head when you say that is, how can it affect grandchildren I don't even have? That just, for something so small to have such a potentially far-reaching impact, it just, it doesn't even seem real. I mean, for me to go through this is one thing. The potential of my daughter going through this is something I can't even really let myself think about. But when I take a further step, and I put it into people that haven't even been born yet, it just boggles my mind. And it makes me angry. And I don't know what I'm angry at. You know, I want to-- there's a part of me that says, if science has done so much, then why can't it do that? And I know the naivete of that statement. I understand that perfectly. And the rational side of me realizes that that's a naive question, but the human and the mother side of me says that that is a very legitimate question. So that’s the first thing that comes to mind.

Even when genetic tests are negative, people with a strong family history of cancer are considered to be at higher risk.  A number of people we interviewed described coping with this reality. As Gina put it, talking about the elevated cancer risk her clinicians have identified in her, “I had everything but the true gene.”  Lori also noted that she’s “at a higher risk than normal” and still has “to be careful,” despite not having an identified genetic link.

 

For Sarah, a negative genetic test doesn’t mean anything; her family history for breast cancer is so strong, she knows the risk for herself and other family members is real.

For Sarah, a negative genetic test doesn’t mean anything; her family history for breast cancer is so strong, she knows the risk for herself and other family members is real.

Age at interview: 51
Cancer-Related Experience: Cancer
Type of Inherited Risk: Family history of cancer
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And just before the cancer diagnosis, I had had genetic testing. I think they tested for 15 markers. They were all negative. And I almost didn't, I almost-- so they tested for 15 markers and it was negative. And it's almost like it didn't mean anything because that didn't take away the fact that my mother died of cancer. My grandmother died with cancer. My aunt died with cancer. I have a cousin who had-- it doesn't take away the family history.
No.
It just said-- to me, it said, I don't know.
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So the genetic testing, almost like it didn't mean anything.

 

Sue is often the only person, in a group of cancer survivors with a lot of cancer family history, who has had a positive genetic test.

Sue is often the only person, in a group of cancer survivors with a lot of cancer family history, who has had a positive genetic test.

Age at interview: 61
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: Lynch syndrome
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Something that's very fascinating, and this is a whole different perspective-- when I joined the [organization] research advocate team, there were about a little over 20 people involved in it. And you know you go around the room, and you introduce yourselves, and you tell your stories, and I would say that the great majority-- in fact, I may be the only one right now that knows I have a hereditary risk for cancer. And the majority of them are cancer survivors. So they've had cancer and they don't know why. And some of their stories, that cancer runs so much in their families, and they've gone through genetic testing, and they haven't yet found a genetic mutation that causes all of the cancer in their families.

Learning Together with Medical Professionals

A number of people we interviewed talked about coping with uncertainty by experimenting with approaches to screening and to treatment.  Some interviewees do their own research and ask for additional tests. Irina says she only wants, and seeks, information that’s actually useful for her health.  Paul  “walks doctors and nurses through” his medical needs regularly. Joan says “you don’t exactly know who to believe” when the science is new and clinicians disagree about what it means.  Others note that patients and doctors around the country are “all learning together.”

 

One way Mea manages her polyposis syndrome is by trying various things, including what doctors think could help, and then telling her providers what works and what doesn’t.

One way Mea manages her polyposis syndrome is by trying various things, including what doctors think could help, and then telling her providers what works and what doesn’t.

Age at interview: 39
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: A polyposis syndrome
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They treat me pretty good. They're pretty good. They're pretty patient. You know. They see how hard it is on me. And they try to do their best in what they do know. So that's a good thing. I mean, I'm sitting here. Sometimes it seems like we're all learning together.
Mhm. What's that like? What do you mean by learning together?
Because it's kind of rare, doctors may have little studies in it, but I don't think they have a lot of patients that come to them with FAP. So they're like, we'll try this, or we'll do this, or we don't know why your magnesium levels are low. And you’ve got other doctors that know why, and then so it's like we're kind of just like guiding ourselves through it. You know, it kind of makes me feel better. And they kind of give the medicine and treatment on how they think they should. So…
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They're patient, you know, or they'll try things, and I'll say, well I don't want to. I've tried it. It's not working, or it's doing this to me. Sometimes I try to do what works for me, and then I'll tell them. And then they'll go, OK, well good. If that's working for you, then you keep on doing that if that's good for you. You know what I mean? So, yeah. It's a mess.

 

Kerry says she deals with her anxiety about uncertainty by learning about other patients’ experiences, and also trusting that her doctors “know what they know” and will do their best to help.

Kerry says she deals with her anxiety about uncertainty by learning about other patients’ experiences, and also trusting that her doctors “know what they know” and will do their best to help.

Age at interview: 36
Cancer-Related Experience: Cancer
Type of Inherited Risk: Identified breast cancer mutation
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Sure. I think that's a part of the being anxious, is the uncertainty. And dealing with it is, that's a good, that’s a good other question. Because it does come up. I think keeping yourself busy and informed. So I did do a lot of my own research, which is, they say not to do. Because then you're finding things which steer you down the wrong way. And so I think at one point, one of the doctors did say, here's a list of great research places to look at that actually have very well documented information. Because I was going on, I was going on websites where women were actually talking about their experiences just like on blogs. To me, that's where I found my information. Because it was a first hand, this is what I went through. You're not hearing somebody’s second opinion, or this is what the studies say, or whatever. This is somebody's firsthand word at what they're going through and what's happening. Which to me, when you're going through it, you have all these questions and all these concerns and everything running through your mind. And all those uncertainties that you're, I don't know. But you, I did want to find somebody with my exact situation. And it, that’s just, it just isn't out there. You know what I mean? So it's hard. Because you’re, you do have those uncertainties and these things that you question. Because, and you look for the answer, but you're probably not going to find the answer, because no one has been in your position. So, I think the best idea is just to stay as informed as you can about your situation, and also have that trust in the doctors, that they do know what they know, and they went to school, and they, you know, they have experiences where they can help you. But also staying busy, keeping your mind occupied with other things.

Uncertainty about Treatment and Its Impact

Participants in our interviews also talked about trying to make sense of complicated information, how to manage the need for frequent screening, and the impact of living with elevated risk on their identity and emotions.