Amy
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Cancer-Related Experience: Elevated risk
Type of Inherited Risk: Identified breast cancer mutation
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About two years ago Amy got a text message from a close relative who had tested positive for a PALB2 gene mutation. Amy, recalling that breast cancer ran in her family, decided to get tested. But at the age of 26, she had to jump through a lot of hoops to get her insurance company to pay for genetic testing. As Amy puts it, “you have to be your own biggest fan, and do a lot of research on your own.” With help from her parents and ancestry.com, she mapped cancer in her family tree and sent it to her insurance company, which finally agreed to cover her genetic testing. Amy, who was very “healthy” and “in tune” with her body, had assumed if something was wrong, “she would have known.” So, expecting her negative test results, she was shocked to learn she was positive for a PALB2 mutation. She had always felt she was in control, so it took a while to accept that, “You have no control over what fate has in store for you, especially when it comes to your genetic makeup.” She is glad to know about her increased cancer risk, without which she would “never have known.” Now she has a specific plan to reduce her risk.
Every six months she goes to a local clinic breast specialty clinic where she gets her annual breast MRI and a mammogram. She also had a 3D ultrasound there, which she describes as “intense.” Amy’s PALB2 mutation also increases her risk for pancreatic cancer—and her grandfather died from it. Because pancreatic cancer is so hard to detect, she gets bi-annual abdominal scans. Amy, now age 30, has one child and hopes to have one more. She plans to have a double mastectomy before age 35 to eliminate much of her breast cancer risk—and the constant worry of “what if there's a small spot that's going to … go from Stage I to Stage IV.” Her husband, and childhood sweetheart, has seen cancer in his own family and is “100% supportive” about this decision. Amy says that, unlike BRCA, “they have not directly tied PALB2 and ovarian cancer.” But acknowledging the lack of research, the “very sneaky” ovarian cancer is also on her radar screen.
Amy thinks of breast cancer as “a plague.” She knows plenty of women, younger than 30, who have been diagnosed with advanced breast cancer, before they ever had a mammogram. With irony, she notes young members of her own family with breast cancer who tested negative for genetic mutations, and vice versa. She says, breast cancer is “just going to choose whoever it wants to choose,” and it “should be on everybody's radar.” She notes how fortunate she is to know her risk and to be so closely monitored. She found her involvement with a national cancer information and advocacy group to be very helpful and has talked to several young women who tested positive for PALB2 mutations. Knowing her now-toddler daughter has a 50% chance of being positive for a PALB2 genetic mutation, Amy plans to provide information and excellent medical care, so she can make decisions for herself. She is committed to raise awareness about genetic cancer risk.
Her PALB2 mutation has changed Amy’s outlook on life. She tries to enjoy every moment from her job in a financial firm to her non-work like. And she is committed to the motto of “enjoy what the world has to offer while you're here.” And the list includes, restaurants, family-and pet-friendly microbreweries, travel, concerts, exercise, hiking. She and her husband love to cook and entertain close friends and family. Amy was raised in a very religious household, and notes that learning she has a mutation on her PALB2 gene was like a “wake up call.” She finds much comfort that her “personal relationship with God has grown a lot,” allowing her to give over her worries “to the good Lord.”
Amy worked hard to get her insurance to pay for genetic testing.
Amy worked hard to get her insurance to pay for genetic testing.
I don't know much about insurance companies, really, but it kind of seems like they just didn't take the time to-- you have to dig in on the information yourself, and provide them with a case, and they can decide whether or not they want to approve it or not, and they weren’t going to do the work.
We had to go through, send the history that I came up with off to the insurance company.
I had to wait months, and I finally got the-- I actually had to call because I never got an answer. So I called, stayed on top of them. They gave me the answer, and like three weeks later, I received a letter in the mail that said I had been accepted, and they approved it for me to, for insurance to cover the blood test.
Amy appreciates her health care team keeping in good communication and telling her promptly when she needs further exams or tests.
Amy appreciates her health care team keeping in good communication and telling her promptly when she needs further exams or tests.
It sounds like you’ve talked about your health care team. Do you want to talk a bit more about the, the, the health care team that you had and what worked, what worked about it
Yeah, I mean, they're very, they're on top of everything. And they definitely keep in communication. If I tell them anything I'm concerned about, they will set up an appointment. There’s, it's kind of crazy. I get swollen lymph nodes under my arm if I switch any sort of deodorant or anything like that. I'm just very sensitive to it. And right when all this stuff is happening, I did not know this, I had like seven swollen lymph nodes under my arms, which was a very early sign of, you know, breast cancer. And they were hurting, they were terrible. I mean, they were, I was in pain. And I went into the doctor, this was at, it was just time for my routine exam with my health care person that I go to see for my breasts. And they said, “OK, well, you got to go right now even to get a scan because that's [INAUDIBLE].” I said, “I really think it's because of my deodorant I switched, but I don't know,” because this was just when I figured out I was allergic to switching or something like that. I don't know what it was that was causing it. And so they sent me directly over to the next building, and I got an ultrasound, a MRI, and everything done. And they just, they're very on top of it, they don't take any chances.
Amy says her family tends to avoid talking about cancer risk and cancer.
Amy says her family tends to avoid talking about cancer risk and cancer.
So cancer, the C word, is not one that we like to bring up in the house very much. We really don't talk about it much.
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And my mom worries about everything, so I know she just, you know, is beside herself when she found out I tested positive. But she also was one of the first ones that mentioned to me, you know, “You know.” You're one step ahead of the rest of us. You know, you're aware of this. This is huge. And I was like, “You're right.” After that, I really just try not to stress about it, but we don't-- it doesn't ever really come up in family, family functions and stuff like that. Unfortunately, I don't get to see the side of my family that it has, you know, directly affected. Like my aunts as much, they don't live around here and my cousins. But it is, it really doesn't come up that often. It's just something you don't really want to have to talk about, but, yeah. They've been very supportive.
Amy describes being contacted by a relative who had just discovered her own BRCA1 mutation.
Amy describes being contacted by a relative who had just discovered her own BRCA1 mutation.
She reached out to me, because they told her, let all your relatives know, you know, especially female, even though it can affect, you know, male or female. And so she did, and I just decided to do it. She said, you know, ”this is not something I'm telling you have to do,” she didn't pressure me at all. But I'm kind of a hypochondriac myself, so I was like, well, I want to know, you know, I need to know. In my head thinking the whole time it would come back negative, because I was thinking in my head, I would know if there's something wrong with me. But you have no control over that so. Yes.
Amy says her life has been affected by genetic risk in several ways, and her feelings about it have changed over time.
Amy says her life has been affected by genetic risk in several ways, and her feelings about it have changed over time.
So I actually, at the beginning, I was devastated. I wouldn't say devastated-- I it took a while for me to process. But now, you know, two, two and 1/2 years out of knowing, it's honestly kind of a sense of relief, because I do take the necessary steps to stay on top of it.
I've kind of accepted it now. I mean, it doesn't bother me as much. Like I said, I have kind of a peace of mind knowing that there is a plan in place to help prevent it and, you know, that kind of thing, detect it early. You can't prevent it but detect it early. You know, it's just, it's crazy because I would have been the last person. I have always had a great immune system. You know, I lived a pretty healthy lifestyle. I'm very active, no history of any sort of health problems at all. I never had a bad check in my life, I don't think...
And you also look at life differently. I try not to take things too seriously, like, you know, things I used to stress out about aren't as important anymore.
Amy says knowing your risk factors can be helpful but cautions not to let them define you.
Amy says knowing your risk factors can be helpful but cautions not to let them define you.
…What might you say to somebody who said, God, I just learned I have PALB2. What would you say to them?
I would say congrats because you're one step away, you know, in the genetic predisposition world, I guess. I don't know if that's even the right way you say it. But you're one step ahead because you're aware. You know, don't let it hold you back. I would say, you know, take the necessary actions to, first of all, get your screenings now to make sure you're OK now. And then stay on a schedule every year, and hopefully, join me in trying to raise some funds and awareness for the gene. Don't let it, don't let it define who you are. You know, just take it as another thing. OK, this is another hurdle I have to go through. And, yeah, it sucks, but it could be way worse. You could, you know, have cancer, or you know, move on, I guess. Don't let it hold you back. With time, as time passes, it gets easier to process and to accept. It's easier for me to say that now. Two and a half years ago, I would have probably been in a different-- I know I was in a different place. So, it does get better. It gets a lot better, and I'm a hypochondriac, and if I think it gets better, than that say something.
Amy is concerned that too little is known, so far, about PALB2.
Amy is concerned that too little is known, so far, about PALB2.
I’m PALB2 positive. What, what does that mean? Nobody knows what that means. And like I said, you google it, and you really don’t find much on it. it worries me just how, little research, and results, and whatever it takes to find out exactly what it can cause, because I am worried its ovaries as well, and I just don’t know about it.
Amy found a new doctor who believed her.
Amy found a new doctor who believed her.
And it was a young guy. He was super nice. And he said to me, he goes, “What are your symptoms?” And at this point, I'm like, “Are you going to listen to me if I tell you what my symptoms are?” He stopped. He turned around. He sat-- you know, just put his hands in his lap, and he looked at me and goes, “Of course I'll listen to you.” And I thought, oh my god, somebody is going to listen to me.
Amy felt sense of loss related to the uncertainty about the future.
Amy felt sense of loss related to the uncertainty about the future.
And I wasn't just going to take the news and lay down. So, it was sort of a mixed bag. We did a lot of crying. And I did a lot of late-night Googling. We did cry about it, because it's a loss. Because much like COVID-- I'll equate it to COVID. Could I do that? It's a loss because you don't know what tomorrow is going to be like. You don't know if you're going to be sicker. Like COVID, you don't know if you're going to walk out and pass the wrong freaking person on the street. I mean, because we don't know enough about COVID. Nobody knows enough about autoimmune diseases that you kind of wonder, am I going to be the lucky one or the not so lucky one? So, my whole-- you know, I call it my arsenal, my tool belt of food, mind, health, movement, all of that is because I don't know what tomorrow is going to bring. And so, I think that was the scariest part. Even though I was like 50 pounds heavier, obviously out of shape, I couldn't necessarily run with my kid then. But it's the whole that it might be taken away from me that you kind of go, wait a minute. You know? What can I do to-- you go through loss. You go through that whole grieving process where you're sad. You're angry. And then I think you kind of get to this acceptance where, OK, this is it. Now what can I do?
Amy’s foot is impacted by nerve damage on the left side of her body
Amy’s foot is impacted by nerve damage on the left side of her body
And then the feeling in my foot-- I almost feel like there's a Band-Aid on my foot. It's a kind of an interesting feeling. It always feels like my foot's kind of wrapped. And when I say foot, it's my left foot, because it's my left side. So, I always feel like I've got-- and I equate it to, like, remember when pixels came out with cameras? That, like, ooh, this was an 8-pixel camera, so you had more pixels. So, I feel like my right foot has, like, a million pixels, and my left foot has 20. So, I feel like the sensitivity of it is either less or more, depending on what happens. A sheet across my left foot doesn't feel good at all, where it doesn't bother my right foot. So sometimes it's a matter of sensitivity feeling a little out of whack, that the two feet are never the same. And then of course, if I trip, it's always on the left foot-- just always.
Amy talks about changing her diet to live a long, healthy life.
Amy talks about changing her diet to live a long, healthy life.
And so, I think the best part of it is that I know what my little subtleties are and that they remind me to behave. Really, really do. And right now, after this whole weekend with my daughter going to college, I'm like, I can't think. I feel like I can't think. And I know it's food. That's why I'm doing juice today and not over-caffeinating. Over-caffeinating, very bad. Love coffee. And so that's a rough one. And yet people ask me how I can eat like this. And I'm like, what are you talking about? You know, it's like, oh, how can you eat healthy foods? Isn't that kind of a funny statement? I mean, how can you eat healthy foods? I mean, when people say how can you eat like that, it's like I can't afford not to. If I want to live a long life and be with my family and maybe run with my daughter and do the things that I wanted to do-- because she was young when I was diagnosed.
Amy discusses teaching fitness classes after her MS diagnosis.
Amy discusses teaching fitness classes after her MS diagnosis.
And really for me, my history before was a teacher. So, teaching comes naturally. I'll be like, I can do that. And so, I have been teaching fitness classes. And I took a TRX class, and then I went to one of their certification modules. You know, they have a whole bunch of different ones. And then I started teaching TRX with my community. And I love working with people, watching them get healthy. People will come to me and talk to me about their stories. And I love talking to them and just sharing with people. And so, for me, actually, in the community I live in, I taught two hula hoop classes, one TRX class a week. I taught with the local libraries, but I was an event teacher. So, I would go in usually during spring break and summertime, which is great, because it's so hot here. It's great to be inside playing with kids. And then I do other things that are inside and outside. But I'm pretty busy.
Amy finds talking about MS to be beneficial.
Amy finds talking about MS to be beneficial.
But I mean, that's the thing. If you tell people what you're doing or what you're struggling with, I think sometimes when you open up a door, people walk in with good stuff. And I think that's the one thing that-- don't be afraid to tell people, because you might find out something else.
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So, I think talking to people and not being afraid of being the victim and positioning yourself to not be the victim. Well, I have MS, and I'm kind of trying to figure out what to do with it. I mean, there's two ways to deal with it. And I think you can be here. But it's really important to take a breath and pick your head up and be here, because maybe out here somebody has got something for you. And I think that is-- that goes back to the mind game struggle. But I would just say be open to listening to people. Be open to talking to people. And then, you know, take it all in. You don't have to do this or that, but maybe this or that might be good. And you won't know unless you talk.