Search for tag: "colonoscopies"

Interviewer: Were you aware that lack of knowledge about colorectal cancer causes a significant percentage of adult deaths from colon cancer every single year? So that means just by listening to this podcast today you are going to reduce your risk of colorectal cancer.

Dr. Priyanka Kanth is from Huntsman Cancer Institute and here are the bullet points that we're going to talk about today to help inform you so you are less likely to get colorectal cancer.

So, first of all, it's one of the most common cancers, and it causes a significant percentage of adult cancer deaths. Colorectal cancer impacts men and women equally. You need to have screening even if you don't have a family history and by the time you have symptoms it can often be too late, that's why screening is so important. So let's start with the first one Dr. Kanth, colorectal cancer I didn't realize this, one of the most common cancers and causes a lot of deaths.

Dr. Kanth: That's correct. So colon cancer is the third most common cancer in the U.S. And so number one being lungs and number two being breast and prostate in the respective gender. And then third is colon cancer, and that's pretty high. And it is also the second most common cancer to cause death in the U.S. So the first is lung cancer, leading the highest deaths from a cancer, and the second is colon cancer. So it is surely that the burden of disease is very high.

Interviewer: Yeah. I think that surprises a lot of people. A lot of people don't realize that and, as a result, maybe don't take screening as seriously. Another misperception is that men . . . It's a man's disease, but it actually impacts men and women equally. Tell me more about that.

Dr. Kanth: Absolutely. So there is no separate recommendation for men and women. Both genders can get this cancer, and both genders should start at the same age. So there is no difference in recommendation. It is a disease for anyone. So anyone should get screened and now at age 45, yes.

Interviewer: And another perception is, well, my family, nobody in my family had colorectal cancer. So I'm probably going to be okay. Maybe I don't need to get screened at 45, which is the new recommendation. Maybe I can wait till I'm 60. But that's false too.

Dr. Kanth: Absolutely, you're very correct about it. A lot of time we don't think that it is a problem for us because we don't have anyone in our family, but that's not correct. It can happen to anyone. In fact, 70% of all colorectal cancer patients don't have a family history. So that's a big number. And that's why it's so important to have this screened because screening is the best prevention.

Interviewer: I also understand that there's a misperception that colorectal cancer just happens to older people, like in their 60s, 70s, and 80s, so I can put off my screening.

Dr. Kanth: Again, a very, very good point. It can happen to anyone. So age is a number. It surely can happen more in older age, but even young people can get it. And we have seen a rise in incidents in less than age 50. So it is not a disease of only old age. It is a disease for anyone to be worried about.

Interviewer: And then the other misperception that I've heard is, oh, I'll go in and get my screening when I start to show symptoms. But that's very dangerous and inaccurate.

Dr. Kanth: It is. It is very dangerous because colon cancer, especially early stages will not have any symptoms. Even sometimes late stages you'll have symptoms, very minimal symptoms. This is a disease where you don't produce symptoms, you don't think about it and it is inside you. So you have to be very, very aware of this. That don't wait for symptoms. Go ahead and get your screening.

Interviewer: And how difficult is it for treatment if a patient comes to you is at the point where they have symptoms?

Dr. Kanth: Absolutely. So if the symptoms are already there, we are worried it is a late-stage disease. And treating a late-stage disease when it has spread beyond colon is much more difficult compared to treating a stage one or two disease, when it is just in the colon. If it's just in the colon, we take your colon out. We all can live without our colon believe it or not. We can have some change in quality of life, but we can have same life expectancy. So treating an early-stage colon cancer is way easier compared to treating a stage four, late-stage colorectal cancer, yes.

Interviewer: And the two options you've got the stool test, or you've got a colonoscopy. Tell me the advantages and disadvantages of each one of those, because, you know, we know that 45 is the number we should be screened at, but some of us don't necessarily want to take, you know, the day off before and after to get a colonoscopy, so talk me through that.

Dr. Kanth: That's correct. So colonoscopy is gold standard. The reason we call it gold standard is this is the only preventive tool where we can go in, we can see a precancerous lesion, which is a polyp, and we can take it out.

Interviewer: And so it's a diagnostic tool.

Dr. Kanth: It's a diagnostic.

Interviewer: In addition too, if there's a problem at the same time, you can take care of it.

Dr. Kanth: You've taken care of it. It will never turn into cancer. Stool test are very, very, very good tests to detect colon cancer. They may not detect polyps, but they will detect colon cancer at a very high sensitivity. So it is a very good option for patients who are worried about colonoscopy. Now, colonoscopies are not without risk. It's an invasive procedure. We give you sedation. You have to go through a prep as well. You have to take time off, like you mentioned, and yes, some risks associated with the procedure itself, like bleeding or perforation. Those risks are very small, very, very small, but can happen. Stool tests on the other hand, are very safe, can detect colon cancer readily, may not be polyps, but it's a very good tool, once we find that you have blood in stool. Now remember this, if your stool test is positive, you have to get a colonoscopy. That is the next step. So just to keep in mind, any screening test result like we said, best screening test is the one that gets done. So we should consider screening whatever option works for you.

Interviewer: And the advantage of a colonoscopy too, is once you have that done, if no polyps are discovered, you're good for another 10 years.

Dr. Kanth: Absolutely. If your prep was good, if you did a good exam and no polyps were found, you have no family history, you don't have to repeat it for 10 years. So even with small polyps now we don't have to repeat it for 7 to 10 years. So the recent recommendation has changed and become more relaxed for even if you had one or two small polyps, you're okay.

Interviewer: And the stool test is yearly.

Dr. Kanth: So stool test, there're a couple of stool tests. One stool test, where you have to do pretty much yearly is called fecal immunochemical testing. The other stool test is called FIT-DNA, which is commercially called Cologuard which you may consider doing it every three years. But it is surely more frequent to do it than getting a colonoscopy done.

Interviewer: And let's talk briefly about barriers that keep people from getting either one of the two screenings. So maybe we can help talk them through and encourage them, you know, if they have average risk to get screened at 45, because that is really the best way of preventing death from colorectal cancer. So what are some of the barriers and how can people overcome those?

Dr. Kanth: Absolutely. So the biggest barrier, I think, is the knowledge. They should know that they have to get screened. So there is a provider and patient education involved either away. So if no one told them, or if they did not hear it on the radio, say they don't know. So that's the biggest barrier. So education is very important from both aspects. The other barriers are, I would say another very big barrier is, of course, insurance coverage, if you don't have insurance. But there are other tools, there are other ways, like I said, stool tests, they are very cheap. So things can still be done even if you don't have insurance. Apart from that, other barriers are just being worried about getting a procedure. A lot of people think colonoscopy is painful. I have to go through this. It's not true. Colonoscopy is a very smooth, painless procedure, honestly. So those kinds of things that this is going to hurt me, that's not correct. So those are the main things. I would say if I have to pick any, I would say education. If you're aware you're going to do it, you will do it.

Interviewer: And sometimes it's just getting it on the calendar, right?

Dr. Kanth: Absolutely.

Interviewer: Whether it's the colonoscopy or whether it's the stool test, just talk to your primary care provider. Have that discussion find out where it works out for you.

Dr. Kanth: Absolutely. Yes. And that's for average risk screening, you can choose anything, colonoscopy or stool test. There are other tests, other modalities too, but these two are the most common. If you've family history, we recommend colonoscopy, that's the usual tool is recommended. So the best way is to contact your primary care provider, talk to them what's best for you.

Interviewer: You may have heard of the news stories about the dramatic rise in colorectal cancer in younger adults. Some perspective and what you need to know next on The Scope.

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Interviewer: Colon cancer used to be something that most people didn't really start worrying about until after they turned 50 or maybe 40 if they had a family history. But doctors are seeing more and more younger people developing the disease earlier in their lives. Dr. Andrew Gawron is a gastroenterologist at University of Utah Health and some perspective on this. First of all, the headlines that I'm seeing about "Dramatic Rise in Colorectal Cancer in Younger Adults," is that accurate?

Dr. Gawron: It is accurate. The data that was published recently this year does show that, especially in younger patients, there has been an increase in the incidence, which is the new cases, of colorectal cancer in young adults. I think it's important to remember that colon cancer is still very rare in this population, and so, therefore, it's hard to know how many new cases we're going to see in the future. But we did see an increase of about 1% to 3% in those younger patients with this new study.

Interviewer: I feel like maybe there are two things going on in this study, and help clarify this for me. I feel like one issue is that Gen-X and millennials are going to be more likely to develop colon cancer than other generations after they turn 50. And then I think the second part felt to me like there are more people under the age of 50 than normal developing signs of colorectal cancer as well.

Dr. Gawron: I think that's accurate, based on the reading of the study, that we are going to see more. I think that the important thing to take home from this study is that colorectal cancer is a preventable, but serious disease. Right now, even though there's this what we call "dramatic increase," even though that dramatic increase is basically an increase from, like 1% to 3%, which translates into about 10,000 cases per year.

So on a population level, meaning that if you look at the entire population of young people, it's not a very common cancer. Now, again, if you're that one person, though, that develops colon cancer, you don't care about statistics.

Interviewer: Right. The statistics don't do you much good. So for those that are going to be more likely to develop it after 50 or you expect to see more people after 50 develop it, they would have a colonoscopy probably, some sort of screening that would protect them. But what about these cases before the screening happens at 50, you know, people that are developing in their 20s or 30s? What can they do?

Dr. Gawron: So right now, I think there are a number of things that we can do as both patients and doctors. First is just to be more acutely aware of symptoms of colorectal cancer.

One, dramatic change in your bowel habits, bleeding from your bowels, unexplained weight loss, loss of appetite as well as any type of change in your bowel habits that is not related to bleeding, such as prolonged constipation or diarrhea. These are all symptoms that may kind of be brushed off as an infection or essentially food intolerance, but if they occur for a period of time, even, you know many, many weeks, it'd be good to see a doctor or get yourself checked out.

Interviewer: And even if you see a doctor, I've read a couple . . . there was a "Times" article, for example. They talked about a 24-year-old woman. She had blood in her stool, and she went in. And the doc couldn't see any hemorrhoids, but that's what he diagnosed her with. And is it true that doctors . . . it's unexpected, so they're not really looking for it, so you might have to get a second or third opinion if you're that concerned.

Dr. Gawron: I think it's very important to be your own advocate, and younger people with symptoms often have delays in diagnosis because cancer is rare and not usually the first thing we look for or treat for. But if you're concerned and worried, be your own advocate. Don't feel afraid to get a second opinion. Don't feel afraid to go to your primary care doctor and say, "I really want to get referred to a specialist to have this evaluated." As a patient, as a young adult, you want to make sure that the most serious diagnoses are not missed if you are really concerned about your symptoms.

Interviewer: Got it. And if you have a family history of it, you should probably be more acutely aware. Screening guidelines say you should start at 40 in that case. But I've read a statistic somewhere, and tell me if this is true, 70% of colorectal cancers aren't related to family history.

Dr. Gawron: That's true. So we don't quite know all of the genetic factors that are playing a role in these cancers that are developing in young people. In fact, it appears that most of the cancers may be what we call "sporadic," meaning that they just are onset. But I think that's because we don't yet understand the genetic risk factors, and that's something that, hopefully, in the future will allow us to personalize screening.

I do want to say one thing, that family history is important, and I think it's important to, along with those warning signs and symptoms, to understand your actual family history. Many patients that I see do not know if somebody had polyps or somebody had cancer in their family, so having an understanding of what people actually had. For example, your parents when they had a colonoscopy, just ask them what was found, and so that you know to tell your doctor. And that will then allow us to have a better risk assessment when you come to see us in the office.

Interviewer: Got it. So I feel like the two takeaways are, one, that you should be aware of the warning signs, and even if you're a younger adult, pay attention to those warning signs in a way that you might not have normally done so because the research is showing people are developing it younger and younger. And then lifestyle choices make a huge different.

Dr. Gawron: Right. Again, the main point is to remember is I don't think you need to be walking around being scared you're going to develop colorectal cancer. It's still very rare in patients that are young, and you should go about your life as you normally would.

But be aware of these very serious symptoms that might need to be evaluated, and healthy lifestyle choices are important, not smoking, avoiding processed meats, having a healthy diet, exercise, maintaining a healthy weight, and again, understanding your family history and asking your older relatives about their colonoscopies and what was found.

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Interviewer: Colonoscopy has reduced deaths from colorectal cancer up to 70% but yet some people still don't have them done. Can they help you overcome some of the common barriers that people face to getting a colonoscopy next on The Scope.

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Interviewer: Dr. Kathleen Boynton is a gastroenterologist at University of Utah Health and colonoscopy is one of these instances where it's a really good tool for prevention but a lot of people still choose not to use it. What are the reasons and how can we overcome some of those barriers? Dr. Boynton, I guess there's five of them so let's just start with number one.

Dr. Boynton: I think it's probably fair to say that perhaps what we need to be doing as a medical establishment is doing a better job of informing patients about why we emphasize colonoscopy screening. We know that colonoscopy, as you mentioned, is effective at cancer prevention in up to 70%. In other words, your reduction and the likelihood of getting colon cancer is decreased by 70%.

Interviewer: Yeah, it's one of the most deadly cancers but yet, one of the most preventable but only if you get the colonoscopy.

Dr. Boynton: Right, right. And it's a tricky thing because most people assume that cancer causes symptoms but not necessarily and that's why we do screening. We recognize that for both breast and colon cancer for instance, you don't have symptoms. When you get symptoms is generally when the disease is advanced and your window for cure is gone. So when studies are done to look at how is colon cancer affected by getting a colonoscopy, we see that the decrease and likelihood is substantial.

Interviewer: So sometimes it can be a little overwhelming. As a patient, it feels like there's all these screenings and tests we have to take which is not necessarily always the case. However, colonoscopy is one of those that really we know is really effective at preventing a disease. So that's the first thing is a lot of people don't realize the importance. Number two, this is a common one I hear, the preparation is tough. You have to drink all sorts of stuff and it takes a day of preparation. Explain that a little bit.

Dr. Boynton: Yeah, well, I do not mean to sound as though I'm making the experience a trite one. I think it is a very difficult prep but in my mind, it's worth the investment. As difficult as it is, I think it's worth it to go through that experience for that reduction and risk. And keep in mind, the risk reduction, let's say it's 70% risk reduction, if I tell you you don't have to come back for 10 years, I'm telling you you have a 70% decline in your likelihood of colon cancer for the next 10 years. That's pretty profound.

Interviewer: Yeah, for a 12-hour, 24-hour investment of your time. Who wouldn't do that, right? The return on investment on that is really good. So the preparation can be tough for some people but the return on investment is really, really high and it's probably not as bad as a lot of people . . .

Dr. Boynton: Yeah, we get the gamut of experiences but I think it's fair to say we generally have a couple of patients everyday who say it's not nearly as bad as I thought it was going to be.

Interviewer: All right, number three, one of the barriers to people choosing to get a colonoscopy is just the fear of the unknown, like there's a lot of scary things involved with this, least of which is, "If I have cancer, I don't know that I want to know that I have it." So what about pain? I would imagine a lot of people fear that they don't know if it's painful or not.

Dr. Boynton: Yes, yes. My answer if patients ask me about the likelihood of pain, I generally say, "The possibility that's going to happen is very low that you're going to experience any discomfort at all." In very unusual circumstances if somebody has a complication related to the pain medication, we may back off, but that's decidedly an exception to the rule. Generally, it's painless to go through this.

Interviewer: And back to the main point. One of the biggest fears is, you know, that diagnosis can be kind of scary. Maybe I'd rather not know. Do you run in to that a lot?

Dr. Boynton: Yeah, and I can sympathize with that. I don't want to go to the dentist because I'm afraid I'm going to have something wrong.

Interviewer: Yeah, like a cavity which . . .

Dr. Boynton: Yes.

Interviewer: This is something quite a bit, a lot worse, right?

Dr. Boynton: Much. Very much so. But in this case, again, I get back to the idea of why we do this exam. Generally, when I find it on a scope, it's a curable lesion and many times, we can remove it at that time.

Interviewer: Don't even have to come back.

Dr. Boynton: Right. Even if it's an early cancer, we can take it out.

Interviewer: Reason number four, it can be a bit of an invasive experience and some people are afraid of that.

Dr. Boynton: Yes, yes.

Interviewer: What do you say to that?

Dr. Boynton: I think that is also in a sense related to that whole fear of the unknown. We've taken in breast cancer and colon cancer, we're kind of screening in very personal areas of the body and I think for a lot of patients, just this idea, this concept in their mind of what we're about to do, much less with people you've never met before, is pretty daunting. At the same time, I can say with great assurance that, at least here, we are very aware of how complicated this is and very sympathetic with how invasive this seems. We're investigating a very private area of the body, how is this going to happen in a way that's not awkward or embarrassing? So the link that we've provided on our website is actually a reenactment of going through the prep and the colonoscopy, and hopefully it serves to reassure people that we are very aware of the hesitations people have about this.

Interviewer: And then finally, the cost. There can be some confusion sometimes as to what the insurance might cover, what it might not cover for those without insurance, how they pay for it so . . .

Dr. Boynton: Right. So the university will investigate this issue on their own as well as you can call your insurance company and find out what your limitations are. We are very happy to work with people that have certain limitations provided by their insurance. Generally, screening is covered on insurance.

Interviewer: And they're getting . . . even if you might have to pay a little bit more, as far as all the tests that are out there in the world, this is really one that could make a difference in the quality of your life, not only just the longevity but the quality of it.

Dr. Boynton: Yes. The co-pay for a colonoscopy is much less than the co-pay for colon cancer.

Interviewer: Right, right. So we covered, I think, a lot of barriers and of course, if people have any other personal barriers, what should they do at that point?

Dr. Boynton: When we call to schedule patients, we have a dedicated call team that schedules only these. They can leave a message with the call center that's scheduling individuals and let them know what their concerns are and we do get that message and we're very happy to work with anyone if it makes their experience easier.

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Interviewer: Carri is a marathon runner, a long-distance cyclist, a wife, a mother, an author of "Along Came Hope," it's a book about the death of her baby, clashing twice with cancer, and adopting her daughter. Carri, today we want you to share your story as a way of learning more about colorectal cancer and to give somebody that's in a similar situation a better idea of the journey ahead, from diagnosis to treatment and how you got through it. First of all, my first question is you're under 50. You're pretty young.

Carri: Yes, I'm only 41.

Interviewer: When people start getting their first colonoscopy, they're 50.

Carri: Yes.

Interviewer: So how did you even find out? Take me to that moment when you found out that you had a colorectal cancer diagnosis.

Carri: In 2009, I was diagnosed with endometrial cancer, cancer of the uterus. And through genetic testing and genetic counselors where I was treated, they said, "With your cancer right now, endometrial cancer, there are similarities between that and someone that might be diagnosed with colon cancer. From here on out, we want you to be tested, have a colonoscopy yearly because we just want to be cautious." I was like, "That's not going to happen to me. I'm 34, but whatever, I'll do the colonoscopies.

So I recovered from my endometrial cancer and then, a year later, they said, "Just to be careful, we're going to do mammograms as well." So I'm 34. A year later, I'm going to do the mammogram, I'm going to do the colonoscopy. There were a lot of things that were going on our lives. So by the time the third one was going to come up, I was like, "No. I'm not doing it." And so I just kept putting it off and putting it off.

So I put it off 2 1/2 years later. So in that 2 1/2 year mark, that's when I went in and I was like, "I better get it done. Fine. Okay." So I go in and I do it and, Okay. We found a polyp." Okay. That's fine. And I've had the same line of doctors and they knew my previous history and so I was at home with my two-year-old and she had the constant cough and we were getting ready to go the doctor. And she's running around and I'm like, "Let's go see [Dr. I]. Let's go see. He wants to hear your cough. Blah, blah, let's go." My phone rings and it's my doctor. My doctor and it's the surgeon. And surgeons never call you.

Interviewer: Yeah, I've heard when the nurse calls, probably okay. When the doctor calls, there's probably a problem.

Carri: Right. And then you answer the phone and he's like, "Hi, this is Dr. so and so." And I'm like, "Ugh." So in the meantime, I'm trying to get my two-year-old dressed, who's like wrestling an alligator and trying to get out the door to go see her doctor for a cough. And he's like, "The test results came from the polyp we removed and there are cancer cells, blah, blah, blah."

I say, "Blah, blah, blah," like I don't want to talk about it, but what really happens is when you hear those words, "These cancer cells turned into cancer. It's positive," it's like tunnel vision. Everything just kind of goes silent. But when you have a two-year-old, you don't have time to kind of let it sink in. I'm like, "We've got to go."

Interviewer: Yeah. It was just such a clash of two different things.

Carri: Yeah. And our daughter was very new to us as well. She was adopted and she had not even been home with us for a year. It was just a lot of different things going on within that moment. And I'm at her doctor's and I'm just sitting there like, "Ugh, I've got to through this again." It was stage one, which is very good. That means it didn't spread but they test lymph nodes and that is very common with all cancers and the lymph nodes were like glands. And I'm not a doctor at all so I'm like, "What are lymph nodes again? What did they do?"

Interviewer: That health class in grade school is a long time ago. Remind me.

Carri: So I'm giggling. I'm like, "What do lymph nodes do again?" Basically, that if the cancer cells or the cancer goes into those lymph nodes, that's bad. We don't want that to go in there, but they can't test the lymph nodes until they do surgery, until they remove the cancer in the area that it surrounds. And that's very typical of cancers. Basically, I wasn't like, "Well, let's just do another biopsy." It was kind of like, "Let's be preventative and let's talk about your options."

So the options are, "Let's remove your whole colon, let's look at your quality of life, or let's remove the part of the colon that we found the cancer so your quality of life can somewhat remain the same. But we won't know until we do the surgery and then when we do the surgery, we'll test the lymph nodes and that's we'll find out if it's spread."

Interviewer: So the decision of just trying to get the part where they believe the cancer is, the risk of that is that they might not get all cancer, is that right?

Carri: Right. So that's the . . .

Interviewer: That's the downside, but the upside is if they do get all the cancer, much better quality of life. They remove the whole colon, then you like to do a lot of endurance stuff, cycling, running, long hikes you wouldn't be able to do that because you have to go to the bathroom a lot.

Carri: Exactly and so . . .

Interviewer: Or the bag?

Carri: Sometimes what they do is when you go in for that surgery to remove the whole colon, they'll go ahead and they'll remove it and then they attach it to . . . this is very wrong, probably, but they kind of attach it to the rectum area. But they can't do it in one surgery so they do the surgery where they remove all of it and they gave you a bag and then they like you heal and then, once everything is good and it looks like it's going to repair, then they're going to go ahead and do another surgery where they're going to basically tie up where that colon was left off to basically your rectum and put it together.

So I would have a bag, but only temporarily. Some people, there could be an issue with the surgery and sometimes people end up with a bag for life because the surgery didn't go well. And it's really hard to determine what's going to happen.

Interviewer: How did you make that decision? How did you decide, "Let's just do part of it"?

Carri: Because I'm young and my quality of life my husband and I are very active and it's like, "What do you want to do?" But it's funny because right now, here today, I had my colonoscopy done last week and they found another polyp.

Interviewer: They did?

Carri: So basically, that's what they said what's going to happen. It's common for you to get polyps. And I'm still waiting for that polyp result to come back. Is it cancer, is it not? And I don't know.

Interviewer: How do you get through it?

Carri: I wrote a book. The book is called, "Along Came Hope," and in that dedication I put, "All it takes is just getting up and putting one foot in front of the other." And you can mean the smallest sense or you can put that in the largest sense. And sometimes, putting one foot in front of the other is just getting out of bed and putting your foot down on the floor and just saying, "Game on. Let's start the day." Your day could be like, "It's so hard and all I need to do is go to work today," and that could be your game on. I mean, sometimes, yeah, you want to go to sleep. When we lost our baby halfway into our pregnancy, it was either . . . I wanted to hibernate. I understood suicide. I really understood it, but that was my thing. Go to work.

Interviewer: That was your "do something" at least.

Carri: Yeah. Do something or just show up and game on because the opposite of that is go to sleep. And either go to sleep forever or go to sleep for three weeks or whatever. And I just couldn't do that. I had a husband and I couldn't let my family down. I couldn't let my mom down, my siblings down and my dad down. I couldn't do it and that just kind of kept me going.

Interviewer: In terms of support, you have done a lot of this on your own, but you've also had some great support. What did you need in terms of support and did you have to ask for that or were people pretty intuitive to give that to you?

Carri: Well, because I've been through my own challenges through various things, obviously, but losing the baby and then endometrial cancer and then having colon cancer, so my support system has always been my family, my husband, my dear friends, everyone has. But at first, when I was first diagnosed with this in 2009, I was like, "Facebook." I'm just reaching out because I can't hold things in. I know a lot of people just want to isolate themselves and not do that, but that's not me

But now, here I am today, waiting for a possible third cancer diagnosis. I just don't want to . . . here I am on the radio and I'm saying I don't want to to tell anybody about it, but I just want to keep it in and I think that people have to understand what it is, how they need help and own it. And just say, "I'm owning it and I need to isolate myself and I'll be fine. If you give me that, I'll show up in a week." Or, "I need to remove myself from social media," and just saying, "I'm not checking social media. I just need to be by myself." Or just saying, "I do need to talk about this and let me talk. I don't want to hear you talk. I'm going to talk about this."

Interviewer: So that would be a big piece for somebody else that's struggling, "Oh, what do I say?? Maybe just don't say, "How are you?"

Carri: Just ask them in a curious way. Not like in a judgmental way, but in a curious way. So how does that feel? What are your next steps? So tell me about lymph nodes. I don't even know what they are." So people that are listening and have a friend, a family member that are going through it, ask them in a curious sense and let them talk about it and just say, "How are you dealing with it? Are you okay with it? What can I do?" Meaning that in a very honest, genuine sense and acknowledging their grief, whatever it is.

Interviewer: Did you find any tools or resources that were useful that you would recommend to somebody else who's going through the same journey?

Carri: Like I said before when I said to stay off of social media and the Internet and don't self-diagnose yourself, that was me. For me, what was helpful was feeling it emotionally. Some people are logical and they want that information.

Interviewer: I think I would want to learn as much as I could about it.

Carri: They want to do that. And so if you're a technical person, you're a logical person and you want that, go online. Read all about it, but read scientific things. Don't read the, "This is what happened to me," because it may not happen to you. You might come through with flying colors and someone's story might be so dramatic that . . . for me now, being on this cancer journey for the past number of years, I can't read anymore because I feel like I heard so many stories, read so many different things that it drains me. And I can't allow myself to be drained because I know how negative I'll feel and I just can't afford that because that means I'll just fall into a cave.

Interviewer: How has this experience changed the way you view things, life?

Carri: It's allowed me to challenge my limits. It's allowed me to say, "I'm going to do this," and it allows me to when I say something and I'm going to tell someone, I'm going to do something, that means I'm going to do it because I don't want to not follow through with something. And that's challenged my belief system. It's challenged me to understand that I'm not in control of my life. I don't know what is in control of my life. It's challenged me to look inward and develop my own faith. And when I say, "my own faith," I don't mean religion, but it means for me to find my own God.

Interviewer: Any final thoughts?

Carri: Don't get colon cancer.

Interviewer: If there's anything you can do to prevent it. And get that colonoscopy right? You put it off for two and a half years.

Carri: I know.

Interviewer: And it's probably fortunate that it didn't get any longer than that.

Carri: So get the colonoscopy because I know the prep sucks and it's awful, but get the colonoscopy because no one wants that. Believe me, no one wants it.

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Interviewer: Genetic discovery is allowing a family to outlive their family history. Up next on The Scope.

Announcer: Examining the latest research and telling you about the latest breakthroughs. The Science and Research Show is on The Scope.

Interviewer: I'm talking with Deb Neklason. She's Program Director of the Utah Genome Project. Dr. Neklason, tell me about this family. What sets them apart from others?

Dr. Neklason: This family is a family that had a lot of colon cancer going on and a lot of people dying at young ages, in their 40s and 30s and 50s, and the family was very impacted by this. So the family was engaged in research to be able to try to piece together the genetics and the history and try to determine what was causing colon cancer in the family.

Interviewer: How did scientists go about discovering what was causing that disease?

Dr. Neklason: The clinicians and the researchers, geneticists at University of Utah worked very closely together on identifying individuals that seemed to have a clinical . . . they had a relative who had had colon cancer or they themselves had had multiple polyps. And they engaged these individuals in research, obtained a blood sample that they were able to look at the DNA, and tried to piece together some part of their genome that they are inheriting that is shared by all the people who are affected by either multiple polyps or have had colon cancer or a parent with colon cancer, and try to piece that together and rebuild that puzzle.

Very early on they identified a gene that's involved in a similar condition called familial adenomatous polyposis. These individuals have hundreds and thousands of precancerous polyps. And so they were able to associate it with this gene and then eventually over time to be able to sequence through and actually find the specific genetic change. And in fact, everybody who had had colon cancer or had multiple polyps did have this genetic variation.

Interviewer: Right. So as part of your journey in helping this family, you went back to patient zero. You did kind of investigative work to figure out where this variation came from. Why was that important?

Dr. Neklason: Well, that's really important because it demonstrates the breadth of the impact of this genetic variation. It's not just a little two or three generation family. We actually traced this back 14 generations to a Pilgrim couple that came to America in the 1640s, and it tells us there's a lot of families and a lot of individuals in this country that potentially have this genetic variation, and we're trying to still continue to piece together these families.

Interviewer: How many of those descendants do you know of have this genetic variation?

Dr. Neklason: We went through and very rigorously investigated three branches of the family that looked like they had more colon cancer than usual. Two of those three branches have the genetic variation, the mutation that leads to high colon cancer risk. And in those two branches we have identified, let me think, 186 individuals with the mutation, and 819 individuals who do not have that mutation, and we've been able to go back and provide that information along with genetic counseling and education to these individuals. A hundred and forty or so of them chose to pursue genetic testing and education and so they know the mutation. The remaining individuals, some of them are deceased.

Interviewer: That's the important part here is that there actually are preventative screening and preventative measures that these people can undergo to slow or stop the disease, right?

Dr. Neklason: There are, and that's definitely the amazing thing about it. We've been able to look at the family and the cancer rates in the family over the years and see what sort of impact did genetic testing have on this family. What sort of impact did it have on cancer prevention? And so we are able to look at cancer rates using the Utah population database that has the genealogies, and overlay the Utah cancer registry, cancer records on top of that. So all cancers diagnosed in the state are reported. When we went and looked at the numbers of cancers in the two affected branches, we found that when we initially engaged them in research, which was about from the mid-80s to the mid-90s, we saw that cancer rates dropped in half in the family.

Interviewer: Wow.

Dr. Neklason: Their incidence was about five times higher than the general population, and they dropped down to about two times higher than the general population by just knowing. That is in the absence of genetic testing, but knowing that they have something going on in their family. So that's the impact of communication and knowledge and education on these individuals. And then we see again after we started to do genetic testing and return results to the family, we see another drop, about 30%, in this family for cancer rates.

Interviewer: How are they made aware of this inherited condition and what the risk is to them?

Dr. Neklason: All of these individuals that I had mentioned we've done genetic testing on, about 180 of them that were mutation positive, we've enrolled them in research and their successive generations. So whenever the children turn 18 we give them the opportunity to enroll in research, and through that we're able to extend this knowledge and the information.

We also encourage the families to communicate with their family members and work with the parents to say, "Okay. You need to talk to your children about that. When they're at the age where they can make their own decisions, you need to look at pursuing genetic testing." And then if they don't carry the mutation then they don't need to undergo colonoscopy like past generations did until they're age 50, the average population risk. If they do carry the mutation then they need to start having colonoscopies in their early 20s and prevent and remove these precancerous polyps before they can become cancer.

Interviewer: So you have this long-term relationship with this family. What do you hope to do going forward?

Dr. Neklason: We would really like to try to piece together some of these other families that are across the country and figure out how they relate to each other, and a lot of that's just engagement of the existing research participants. Do you know your family history? Do you know the names of your great, great grandparents, and then all of a sudden you can start to piece together these families. And that's important because some of these other 15 families, odds are you can expand that family, just like we did the Utah family, to include hundreds of individuals who are at risk and don't know that they're at risk. It flies under the radar and sometimes it's very hard to pick out in the general population that colon cancer is not just bad luck in your family, you actually do have this genetic mutation that's leading to your risk.

Announcer: Interesting, informative, and all in the name of better health. This is The Scope Health Sciences Radio.