Today I met with a genetic counselor. To be honest, I went in not knowing a single thing: what we were going to talk about, or where it was all going. I had millions of questions prepared in my mind, but the doctor answered all of them before I could even get to them. It was extremely informative, but now my mind is all abuzz, as to be expected following something like this.
But first, let's talk about my appointment with my plastic surgeon, since that also happened today.
(The first part of this post will be all the descriptive information from today in a nutshell. The second part will be my emotional take on everything. If I can get there.)
So first I had my pre-op appointment and consultation with my plastic surgeon. I signed the consent form and he ordered my implants, and we are a GO for my Oct. 27 surgery! He said recovery time is about 2-3 weeks total. About 1-2 weeks until I'm back to work (but most likely less), and about a month until I can resume more strenuous activities, such as heavy lifting or exercise. All in all it seems like a relatively easy surgery. No drains (yay!) and it will be done outpatient.
Then I met with a genetic counselor, which was recommend by my breast surgeon, given my strong personal cancer history and family cancer history. Thus far I've tested negative for BRCA1 and BRCA2, as well as the BART genes, all of which significantly increase the risk of getting breast cancer. So the genetic doctor recommended another test that looks for Li-Fraumeni Syndrome.
We had about a 2-hour consultation period where she thoroughly explained the benefits and risks of getting the test done, and after speaking with her I decided to go ahead with the test. If I test positive, it means I have a very high chance of getting another cancer in life. (Which is one reason I originally was hesitant: I didn't want to live my life in constant fear and anxiety) However, a huge benefit is that if I do test positive, I am eligible (and insurance would cover) early and in-depth health/cancer screening I wouldn't otherwise be eligible for, such as colonoscopies starting at age 26 instead of 50, etc. Also, I would seriously consider getting a prophylactic mastectomy on my left side. (a preventive mastectomy), since having the mutation would mean I have a high chance of getting breast cancer again on the other side.
If I test negative for Li-Fraumeni, the doctor might recommend further genetic testing.
What makes Li-Fraumeni likely, and what makes me eligible for the test in the first place, is that I have a family history on my mom's side of Leukemia (me and my uncle), breast cancer at a young age (me) and Liposarcoma (my mom's father). All of those cancers are commonly seen in people who have Li-Fraumeni Syndrome or who carry the mutation. Having the mutation doesn't mean you will get cancer, but in my case, it would help explain the two cancers at a young age, since I tested negative for three of the main breast cancer genes.
Another benefit to getting tested for Li-Fraumeni is that Sean and I will be able to make more informed decisions when it comes time to have kids, because if I AM a carrier, I WILL pass it along to a child because it's a dominant trait.
If I do test positive, I agree I don't exactly want to live my life going through health screenings all the time, but if something WERE to happen again, the early screenings would be beneficial for my outcome. And that's basically the main thing. I want to be on top of my health all the time, even if it means screenings all the time. If it can save my life it's worth it to know the results. I'll just have to work really hard on managazing my anxiety.
It's interesting because there are good and bad things about both scenarios: if I test positive or negative. And it's really hard to sort out my feelings since there is a LOT going through my mind. I always say after getting this much information I need to let it "marinate" for a few days before I can write about it. But sometimes, jumping right in is the thing to do. So here I am, jumping. Splash. Enter the "emotional take." Here goes:
I always said, and convinced myself, that me getting breast cancer had something to do with the Leukemia treatment. That somehow the three years of chemotherapy poisoned me and caused me to get breast cancer, despite every single doctor I've seen NOT thinking that. So why did I think that? Because it made the most sense to me. I was negative for BRCA1, BRCA2 and BART. So it wasn't that. My tumor was negative for hormones, so such things as being on birth control pills for eight years, aren't to blame. So that's out. So what WAS it? There HAS to be a REASON. It doesn't make sense that I'd just GET breast cancer at 26. I have a really hard time, even remotely comprehending, I just have really bad luck.
If I test positive for this syndrome, this could be the end of the what-ifs, as far as medical testing goes. Meaning, there are always genes and chromosomes that testing could miss, but if I test positive here, to all the doctors' knowledge, this syndrome could be what caused the Leukemia and early-onset breast cancer. Not just "could be" but probably IS, actually.
There might finally be an answer to this puzzle that's now become a part of my life.
Would knowing I have a genetic mutation that makes me susceptible to cancer be good? NO. Of course not. Having it wouldn't be good, and knowing about it would be both bad and good. I'd go through life (I'm assuming) knowing I already had two cancers and could have more. I'd always be on the "lookout." I'd think every ache or pain or twinge in my body was cancer. Because, if I carry the gene, those thoughts and fears aren't that far-fetched. If I have the gene, I may be right to be paranoid about every little thing. And the testing. The testing and the screenings for breast, colon, and other cancers. Constant testing and screenings. Good = if I get cancer again (G-d forbid), the screenings would help catch it early and would hopefully positively affect my outcome. Bad = constant testing. Constant worrying. As if I don't worry enough already.
In the beginning of this breast cancer journey I had two thoughts about the rest of my life and my health. The first thought was that since I've had cancer twice now, cancer may just be a part of my life. I might get it again, and if I don't get it again, I'll constantly be on the alert for it. And the second thought was that this breast cancer, although a second cancer in my life, is it. It's the last one I'll have. I'll live until I'm 97 (this age was decided by me many years ago) and I'll never, ever get cancer again.
Being positive for this mutation could mean my first thought comes to life a little bit more: that cancer is always something I'm going to have to deal with, either directly or indirectly.
So YES, if I do indeed have Li-Fraumeni Syndrome, here is what it COULD mean for me (I say "could" because my thoughts change on an almost-daily basis):
But first, let's talk about my appointment with my plastic surgeon, since that also happened today.
(The first part of this post will be all the descriptive information from today in a nutshell. The second part will be my emotional take on everything. If I can get there.)
So first I had my pre-op appointment and consultation with my plastic surgeon. I signed the consent form and he ordered my implants, and we are a GO for my Oct. 27 surgery! He said recovery time is about 2-3 weeks total. About 1-2 weeks until I'm back to work (but most likely less), and about a month until I can resume more strenuous activities, such as heavy lifting or exercise. All in all it seems like a relatively easy surgery. No drains (yay!) and it will be done outpatient.
Then I met with a genetic counselor, which was recommend by my breast surgeon, given my strong personal cancer history and family cancer history. Thus far I've tested negative for BRCA1 and BRCA2, as well as the BART genes, all of which significantly increase the risk of getting breast cancer. So the genetic doctor recommended another test that looks for Li-Fraumeni Syndrome.
We had about a 2-hour consultation period where she thoroughly explained the benefits and risks of getting the test done, and after speaking with her I decided to go ahead with the test. If I test positive, it means I have a very high chance of getting another cancer in life. (Which is one reason I originally was hesitant: I didn't want to live my life in constant fear and anxiety) However, a huge benefit is that if I do test positive, I am eligible (and insurance would cover) early and in-depth health/cancer screening I wouldn't otherwise be eligible for, such as colonoscopies starting at age 26 instead of 50, etc. Also, I would seriously consider getting a prophylactic mastectomy on my left side. (a preventive mastectomy), since having the mutation would mean I have a high chance of getting breast cancer again on the other side.
If I test negative for Li-Fraumeni, the doctor might recommend further genetic testing.
What makes Li-Fraumeni likely, and what makes me eligible for the test in the first place, is that I have a family history on my mom's side of Leukemia (me and my uncle), breast cancer at a young age (me) and Liposarcoma (my mom's father). All of those cancers are commonly seen in people who have Li-Fraumeni Syndrome or who carry the mutation. Having the mutation doesn't mean you will get cancer, but in my case, it would help explain the two cancers at a young age, since I tested negative for three of the main breast cancer genes.
Another benefit to getting tested for Li-Fraumeni is that Sean and I will be able to make more informed decisions when it comes time to have kids, because if I AM a carrier, I WILL pass it along to a child because it's a dominant trait.
If I do test positive, I agree I don't exactly want to live my life going through health screenings all the time, but if something WERE to happen again, the early screenings would be beneficial for my outcome. And that's basically the main thing. I want to be on top of my health all the time, even if it means screenings all the time. If it can save my life it's worth it to know the results. I'll just have to work really hard on managazing my anxiety.
It's interesting because there are good and bad things about both scenarios: if I test positive or negative. And it's really hard to sort out my feelings since there is a LOT going through my mind. I always say after getting this much information I need to let it "marinate" for a few days before I can write about it. But sometimes, jumping right in is the thing to do. So here I am, jumping. Splash. Enter the "emotional take." Here goes:
I always said, and convinced myself, that me getting breast cancer had something to do with the Leukemia treatment. That somehow the three years of chemotherapy poisoned me and caused me to get breast cancer, despite every single doctor I've seen NOT thinking that. So why did I think that? Because it made the most sense to me. I was negative for BRCA1, BRCA2 and BART. So it wasn't that. My tumor was negative for hormones, so such things as being on birth control pills for eight years, aren't to blame. So that's out. So what WAS it? There HAS to be a REASON. It doesn't make sense that I'd just GET breast cancer at 26. I have a really hard time, even remotely comprehending, I just have really bad luck.
If I test positive for this syndrome, this could be the end of the what-ifs, as far as medical testing goes. Meaning, there are always genes and chromosomes that testing could miss, but if I test positive here, to all the doctors' knowledge, this syndrome could be what caused the Leukemia and early-onset breast cancer. Not just "could be" but probably IS, actually.
There might finally be an answer to this puzzle that's now become a part of my life.
Would knowing I have a genetic mutation that makes me susceptible to cancer be good? NO. Of course not. Having it wouldn't be good, and knowing about it would be both bad and good. I'd go through life (I'm assuming) knowing I already had two cancers and could have more. I'd always be on the "lookout." I'd think every ache or pain or twinge in my body was cancer. Because, if I carry the gene, those thoughts and fears aren't that far-fetched. If I have the gene, I may be right to be paranoid about every little thing. And the testing. The testing and the screenings for breast, colon, and other cancers. Constant testing and screenings. Good = if I get cancer again (G-d forbid), the screenings would help catch it early and would hopefully positively affect my outcome. Bad = constant testing. Constant worrying. As if I don't worry enough already.
In the beginning of this breast cancer journey I had two thoughts about the rest of my life and my health. The first thought was that since I've had cancer twice now, cancer may just be a part of my life. I might get it again, and if I don't get it again, I'll constantly be on the alert for it. And the second thought was that this breast cancer, although a second cancer in my life, is it. It's the last one I'll have. I'll live until I'm 97 (this age was decided by me many years ago) and I'll never, ever get cancer again.
Being positive for this mutation could mean my first thought comes to life a little bit more: that cancer is always something I'm going to have to deal with, either directly or indirectly.
So YES, if I do indeed have Li-Fraumeni Syndrome, here is what it COULD mean for me (I say "could" because my thoughts change on an almost-daily basis):
1. I will be worried about getting another cancer. The worry is something I'll have to live with.
2. I'll always be screened early and often for cancer, which both causes anxiety, but also could help save my life. I'll take a break from my list here to admit I was pretty much sold on NOT getting the test when I first met with the doctor, and it wasn't until she explained the screening until my ears perked up. The early screening, no matter how nerve-wracking or tedious it may be, was the main reason I decided to get the test done. Because I realize this is my LIFE I'm talking about. And now I'm not only interested in doing what I can to save my life, but I'll be married in a few months, and I've got other lives to worry about. It's not just me anymore. I'll have a husband, and hopefully, eventually, children (who are healthy!). I want to do what I can to save my life for Sean and whatever family I create. If this is something I can do to be proactive, it seems obvious to me: why WOULDN'T I have this test done? Why would I ever pass up the opportunity to know more about my health and actually take action when it comes to screening and maybe even prevention?! It was like a "duh" moment for me when she said one benefit to having the test and knowing the results is the steps I could take. Why wouldn't I take steps to maybe prevent other cancers if I can, and catch them early if I can? From that moment on, my decision was made, and what I had to do was crystal clear in my mind. Part of all this is knowing and trying to be prepared (though you never really can) for the anxiety I'll feel if I test positive, but the alternative option isn't really an option for me. I'm 26 and have lots of years left to live. One reason my breast cancer was caught so early was because I caught it. I was being proactive. One reason the Leuekemia was caught when it was is because I said I wasn't feeling well. I am a strong advocate for knowing your body and looking out for yourself. And this test gives me the power to do that on a deeper level. This test allows me to take the action I always promised myself I'd take.
3. Besides the anxiety and worry associated with constant testing, I'll also have to work on and work through the anger I'll feel (and I already feel) with having this gene. I'm already angry I got cancer once, and I'm already angry I got cancer twice. But if I know I have this syndrome I'll be angry that I have the syndrome. I'll be angry I have this very rare, insane, crazy mutation. And I'll be angry knowing this rare, insane, crazy mutation will be a part of my life forever.
4. Preventive mastectomy on my other side. I'm already so extremely worried about getting breast cancer again that I've quite seriously thought about getting another mastectomy, though it wasn't something my doctor recommended. As much as I say I feel I've lost some of my feminity from having a mastectomy, and as much as that's still true, I'd easily take another one over worrying every day. I want them both OFF. One turned against me, so the other could also. What was once a part of me because foreign, contaminated. I know a lot of me wanting to have another mastectomy is based on anxiety, and is something MANY breast cancer survivors face. And I know therapy will help me deal with that anxiety. And I believed that as each day passed I would get further from the breast cancer and begin to feel better and not be as anxious. That I could work through all my fears and move on without having another mastectomy. But if I have this gene, all that goes out the window. My fears become more real and having another mastectomy becomes a real option.
If I DO NOT have Li-Fraumeni Syndrome, here is what it COULD mean:
1. We don't know what caused me to get cancer twice before the age of 27. I might get further genetic testing, but from what the doctor said, there's really only one more test they could do. Not knowing would make me crazy. It would make me wonder if I do have a chance of getting cancer again, and what screening is the best option, or if I would never get cancer again. In other words: I wouldn't know what I would worry about, and if my worry would be unfounded. Do I worry about cancer, or do I not?
2. Further into No. 1, what happened to me remains a mystery and my medical history remains a puzzle. I would feel like some medical anomaly. Part of that makes me feel like I've just had really, really bad luck.
And that's it. Those two things: we wouldn't know. And to be completely honest, I still think I'd be just as worried about getting cancer again if I don't have the gene, than if I do. Honestly.
It's easier said than done to say I shouldn't "jump to conclusions" because we don't know the results yet. But I have to sort out my thoughts and prepare myself the best I can. If I don't think about this now, it will be harder to four weeks from now.
I've never felt so engaged in science as I did today when meeting with the genetic counselor. The two hours we spent in her office felt like five minutes. I took in, more than I ever have before, every single iota (I love to use this word when I can) of information she gave. I felt like my brain was a washcloth and what she was saying was water, or even something more "soakable." I studied the pictures of the chromosomes, and imagined what they looked like inside blood. And I studied the family health tree she created. I went into her office doubtful and cloudy, unclear of what the purpose of the appointment was. And I left feeling almost renewed, like I had just discovered gold. Sure, the news wasn't either good or bad. It wasn't even news. It was information. And it made sense. Though my emotions are pretty obviously all over the place, what she told us and taught us today was very, very clear. It might be the "answer" we're looking for, or it could be nothing. Only time will tell. I do know, though, that this appointment was one of the most informative, beneficial appointments I've ever had.
So I'll end with that. Today I learned a lot, and have many feelings about the results of this test. Sorting them out is the first step to letting them be real, to letting all of this be real. I could really, actually have some syndrome that makes me more likely to get cancer. More than once. And knowing that could be great for me, or it could be bad. It could bring solace knowing there's a "reason" for all this, or it could create more confusion and uncertainty. Or, we could learn nothing from all this.
Today I'm not searching for one specific thought on all this. I won't have that. Likely ever. All I'm doing is "sorting." Like laundry, almost. This thought goes here, this one goes there. They become folded, and form stacks. And I work through them, or like laundry, eventually put them in their proper places.
Some articles about Li-Fraumeni:
http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome
http://en.wikipedia.org/wiki/Li-Fraumeni_syndrome
http://emedicine.medscape.com/article/987356-overview
http://www.cancer.net/patient/Cancer+Types/Li-Fraumeni+Syndrome
2. I'll always be screened early and often for cancer, which both causes anxiety, but also could help save my life. I'll take a break from my list here to admit I was pretty much sold on NOT getting the test when I first met with the doctor, and it wasn't until she explained the screening until my ears perked up. The early screening, no matter how nerve-wracking or tedious it may be, was the main reason I decided to get the test done. Because I realize this is my LIFE I'm talking about. And now I'm not only interested in doing what I can to save my life, but I'll be married in a few months, and I've got other lives to worry about. It's not just me anymore. I'll have a husband, and hopefully, eventually, children (who are healthy!). I want to do what I can to save my life for Sean and whatever family I create. If this is something I can do to be proactive, it seems obvious to me: why WOULDN'T I have this test done? Why would I ever pass up the opportunity to know more about my health and actually take action when it comes to screening and maybe even prevention?! It was like a "duh" moment for me when she said one benefit to having the test and knowing the results is the steps I could take. Why wouldn't I take steps to maybe prevent other cancers if I can, and catch them early if I can? From that moment on, my decision was made, and what I had to do was crystal clear in my mind. Part of all this is knowing and trying to be prepared (though you never really can) for the anxiety I'll feel if I test positive, but the alternative option isn't really an option for me. I'm 26 and have lots of years left to live. One reason my breast cancer was caught so early was because I caught it. I was being proactive. One reason the Leuekemia was caught when it was is because I said I wasn't feeling well. I am a strong advocate for knowing your body and looking out for yourself. And this test gives me the power to do that on a deeper level. This test allows me to take the action I always promised myself I'd take.
3. Besides the anxiety and worry associated with constant testing, I'll also have to work on and work through the anger I'll feel (and I already feel) with having this gene. I'm already angry I got cancer once, and I'm already angry I got cancer twice. But if I know I have this syndrome I'll be angry that I have the syndrome. I'll be angry I have this very rare, insane, crazy mutation. And I'll be angry knowing this rare, insane, crazy mutation will be a part of my life forever.
4. Preventive mastectomy on my other side. I'm already so extremely worried about getting breast cancer again that I've quite seriously thought about getting another mastectomy, though it wasn't something my doctor recommended. As much as I say I feel I've lost some of my feminity from having a mastectomy, and as much as that's still true, I'd easily take another one over worrying every day. I want them both OFF. One turned against me, so the other could also. What was once a part of me because foreign, contaminated. I know a lot of me wanting to have another mastectomy is based on anxiety, and is something MANY breast cancer survivors face. And I know therapy will help me deal with that anxiety. And I believed that as each day passed I would get further from the breast cancer and begin to feel better and not be as anxious. That I could work through all my fears and move on without having another mastectomy. But if I have this gene, all that goes out the window. My fears become more real and having another mastectomy becomes a real option.
If I DO NOT have Li-Fraumeni Syndrome, here is what it COULD mean:
1. We don't know what caused me to get cancer twice before the age of 27. I might get further genetic testing, but from what the doctor said, there's really only one more test they could do. Not knowing would make me crazy. It would make me wonder if I do have a chance of getting cancer again, and what screening is the best option, or if I would never get cancer again. In other words: I wouldn't know what I would worry about, and if my worry would be unfounded. Do I worry about cancer, or do I not?
2. Further into No. 1, what happened to me remains a mystery and my medical history remains a puzzle. I would feel like some medical anomaly. Part of that makes me feel like I've just had really, really bad luck.
And that's it. Those two things: we wouldn't know. And to be completely honest, I still think I'd be just as worried about getting cancer again if I don't have the gene, than if I do. Honestly.
It's easier said than done to say I shouldn't "jump to conclusions" because we don't know the results yet. But I have to sort out my thoughts and prepare myself the best I can. If I don't think about this now, it will be harder to four weeks from now.
I've never felt so engaged in science as I did today when meeting with the genetic counselor. The two hours we spent in her office felt like five minutes. I took in, more than I ever have before, every single iota (I love to use this word when I can) of information she gave. I felt like my brain was a washcloth and what she was saying was water, or even something more "soakable." I studied the pictures of the chromosomes, and imagined what they looked like inside blood. And I studied the family health tree she created. I went into her office doubtful and cloudy, unclear of what the purpose of the appointment was. And I left feeling almost renewed, like I had just discovered gold. Sure, the news wasn't either good or bad. It wasn't even news. It was information. And it made sense. Though my emotions are pretty obviously all over the place, what she told us and taught us today was very, very clear. It might be the "answer" we're looking for, or it could be nothing. Only time will tell. I do know, though, that this appointment was one of the most informative, beneficial appointments I've ever had.
So I'll end with that. Today I learned a lot, and have many feelings about the results of this test. Sorting them out is the first step to letting them be real, to letting all of this be real. I could really, actually have some syndrome that makes me more likely to get cancer. More than once. And knowing that could be great for me, or it could be bad. It could bring solace knowing there's a "reason" for all this, or it could create more confusion and uncertainty. Or, we could learn nothing from all this.
Today I'm not searching for one specific thought on all this. I won't have that. Likely ever. All I'm doing is "sorting." Like laundry, almost. This thought goes here, this one goes there. They become folded, and form stacks. And I work through them, or like laundry, eventually put them in their proper places.
Some articles about Li-Fraumeni:
http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome
http://en.wikipedia.org/wiki/Li-Fraumeni_syndrome
http://emedicine.medscape.com/article/987356-overview
http://www.cancer.net/patient/Cancer+Types/Li-Fraumeni+Syndrome
Have I ever told you that you're the smartest person I ever met? There really aren't any words to describe the admiration I have for you....just that its amazing how you're able to think so analytically while in such a stressful situation and how you're always thinking of others. Good luck with the testing! Love you! Aloha from Hawaii <3
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