Mom has CC, refuses genetic test

[sylvie32]

Hello - this is my first post. I have a question to anyone here who cares to answer. If your child asked you to be tested to see which genetic mutation is responsible for your colon cancer (I think there are at least 5 different genetic tests available to date), would you do it? Or would you feel offended by it?

My mother has stage IV colon cancer, met. in liver and lung, and is outraged at the idea of testing. I want to know if I have this gene, and so does my older daughter. My mother on the other hand belittles testing, and also has concerns of privacy, as in, insurance possibly getting a hold of the test results, etc. However, my position is that this is my choice. If I want to take my chances with an insurance company, that is totally up to me. In a matter of life and death like this, she shouldn't be holding back just because she doesn't agree that this is useful.

I could of course be tested anyway, but from what I have read, only if you know the exact mutation they have to look for can you get an accurate result.

I might want to add, our relationship has always been fraught with criticism, judging, and not seeing eye to eye on things. Now she is nearing the end of her life, and I feel she is playing some kind of cruel game with me. I don't even know how to broach the subject anymore I am so angry and confused.

Thanks for any input from you, and God bless.

Sylvie

[Ashlee H.]

Sylvie - Does it really matter how we would feel if we were asked to do the testing? From what you say, your mother will not do the test and it doesn't appear you are going to be able to change her mind. The best thing for you to do is inform your doctor you have Colon Cancer in your family and get tested. If caught early, colon cancer is curable.

Ashlee

[Kathryn in MN]

First off, I completely agree with Ashlee. And you can take charge of your own health without demanding your mother get expensive testing that might not really be necessary. You haven't given enough information to determine if there are factors which make her doctors think her colon cancer might be genetic. Since she says no, accept that and move on.

Genetic testing is normally only done when there is strong suspicion that the cancer is a genetic one. Since you mention yourself AND your older daughter, it sounds to me like your mother is not young. If she is over age 50, and the only one with colon cancer in your family, the doctors, and the insurance companies wouldn't be big on testing. This is because it would not be common at all for her cancer to be genetic.

My oncologist did suggest testing as something I may want to consider, and my insurance company did pay because colon cancer was my SECOND primary cancer under age 50, and there is a suspicion that the "liver" cancer my paternal grandmother died from in the early 60's might have actually been colon cancer with mets to the liver. The testing isn't 100% accurate, but mine did come back as not genetic. Still because of my having colon cancer by age 45 (diagnosed at 47, but with 2 years of synptoms first), my children will be scoped starting at age 35. And my younger siblines had their first scopes right after my dx.

The testing is NOT cheap. Even with insurance paying, I still had to pay hundreds of dollars for my portion.

Inform your primary physician that you have colon cancer in the family, and have your daughter do the same. If your mother was diagnosed before age 60, then ask about the screening guidelines for yourself. if she was diagnosed after age 50 and you have no other family members with colon cancer, and no other risk factors, you should be screened at age 50. If you are over 50 and have not had a colonoscopy yet, get yourself in and get it done now. It doesn't matter whether your mother has a possible genetic colon cancer or not - everyone should have their first colonoscopy by age 50. If you have possible signs of colon cancer ask to be screened now (unexplained abdominal bloating and pain, mucous in stool, thinning stools, blood in stools). But be aware that not everyone has symptoms, so following recommended screening guidelines if you do not have symptoms is important.

I hope you can make peace with your mother. Give her a break. As you said she is near the end of her life. And Stage IV colon cancer is no picnic.

[Gaelen]

Sylvie, I agree with both Ashlee and Kathryn.
First, "genetic testing" is really only appropriate if your mother was diagnosed under the age of 50, and there is a first line (sister/brother) history of either colorectal or uterine cancer on her side of the family. If neither of those conditions exist, then it's possible that she's "patient zero" for your family.

Sure, you're concerned for your risk. But your mother isn't the one who needs to get tested unless she has direct-line relatives who had colon and/or uterine cancer, and she was dx'd under the age of 50. Testing her isn't going to establish whether you have genetic mutations - and she already knows she has the disease. That already ups your risk. You don't really need more information than that.

The best way to handle your concern is to be vigilant and get your own preventative screening program started earlier (10 years younger than your mother was at her age of diagnosis, unless you're African American - in that case you're at higher risk and need to be screened right away.) Your testing should be covered based on your mother's history. As for your older daughter and your other children, they're less at risk if your screenings come out okay because they are farther away (genetically) from your mother. She'll need to be screened earlier, but again - 10 years younger than your mother was at her age of diagnosis.

[jmarie]

I was dxd at age 30, my genetic test was negative for the known genetic links to colon cancer. Like the others have said tell your doctor your a Mom has cancer and they will figure out what is best for you. Know the symptoms of colon cancer and if you ever notice any talk to your doctor right away.

[KarMel]

Everything the above posters said I agree with.

However, if you still think you want testing, tell your mother how much you want it done. Offer to pay for it out of your own pocket, since this is information you want for yourself.

Will your mom have to go be evaluated by a genetics counselor? That may be too much troupble for an elderly woman with stage 4 colon cancer. If that is the problem, you could offer to drive her, go with with her to her appointments, anything you can do to make it easier for her.

If this is just one of your mother's "games", I am afraid I can't offer help or advice, except to do whatever you can to help your mom thru this difficult time, and see if your relationship can be improved just by showing her how much you care for her.

Peace

[mymaria]

As someone who has a confirmed Lynch Syndrome diagnosis, I would suggest you get the testing, not your mom. My grandmother and father both had early-diagnosed colon cancer but they've been gone for years now, so testing is not possible. I was diagnosed with uterine AND colon cancer at age 43, just five months apart. My doctors strongly suspected I had HNPCC and it was confirmed with the test. The first test (on me) was very expensive but it's completely accurate. My 18-year-old daughter just got her results back two weeks ago and she's positive too. Her test was significantly less, since they were only testing for one gene. You have a 50/50 chance of having HNPCC if your mother indeed does have it. It's important to tell your doctor your family history and you need to have a colonoscopy 10 years before your mom's age of diagnosis. It's much more important for you to get tested at this time instead of your mother.

[sylvie32]

Thank you for your input. I am sorry I did not provide complete information: my mother's sister died of colon cancer at the age of 57 - we do not know when the tumors first appeared since she was only diagnosed near the end of her life. Since those tumors are said to grow slowly, possibly she did start having it under 50. My mother's grandmother also died of some digestive disease, but these things were not talked about back then, so we don't know for sure what it was.

I myself am 51, and I had 2 colonoscopies showing one benign polyp each time.

A stool DNA test is in the works that offers reliable results but is not on the market yet. In time this might replace colonoscopies which would of course be a huge help.

Here is a link that explains about genetic testing for CC, and from what I understand, contrary to what one or two of you said, it IS crucial to have the person who actually HAS the cancer to get tested in order to test others who don't have cancer for the correct gene mutation.
[url]http://www.nature.com/nrgastro/journal/v3/n12/full/ncpgasthep0663.html/url]

Thanks again for your answers. I am sorry some of you were irritated by this sort of question.

Sylvie

[RayGirl]

They can't tests for all possible mutation yet. So even if your mom's cancer happens to be genetic, it is completely possible that she would test negative on all the current tests. Then would you still worry about all the ones that they can't test for? Would it change how aggressive you would be in your own screenings? If there is no other family history, then a genetic counselor would probably consider you low risk and might not even suggest the test.

I have a very strong family history of colon and ovarian cancer, but still tested negative on the current available tests. This didn't change how my family is tested. My kids will still start their screenings at 24, 10 years prior to my dxn. My siblings (that have been screened) and parents are all on a two-three year cycle for their colonoscopies depending on their doctors.

At one point there was a lot of fear that there were loopholes in the laws that allowed insurance companies to drop you if tested positive for genetic disorder and perhaps she is worried about this. I know my mom feared this for me and offered to get tested herself rather than have me tested. She figured she was already on Medicare and coverage couldn't be impacted. However, it was only 50% chance that she was a source of the gene and the counselor wanted to test only me first. These loopholes may be an urban legend, but then again who really understand all the clauses in our laws???

It could also be a fear that she could have passed this disease on to you and not wanting to know that she could cause you future trama.

[weisssoccermom]

Sylvie,
I just read this thread & wanted to respond. I'll have to say, right from the start, I know very little about the whole genetic testing thing. I do understand that you seem to have a family history of the disease so I guess my questions are these.

1. If you can get your mom to get tested and you test positive for the same gene, what are you going to do about it? Will you go in and have your rectum and colon removed as a precautionary measure??

2. Even if you know that you have whatever gene it might be, wouldn't the doctor just want you to have scopes every year or so??

3. Without the testing, knowing your family history, how often does the doctor feel that you should be scoped??

I guess I understand your wanting to know, but I'm just not sure it changes anything - unless you plan (like some breast cancer patients do with precautionary breast removal) to have your entire colon & rectum removed. I just can't imagine that any doctor, with your personal history or benign polyps AND a family history, not be diligent about you and your daughter getting scoped.

You know, your mom just feel so badly about this whole thing and upset that she may have passed something onto you that the whole process of the genetic testing is upsetting to her. In addition, she's dealing with a lot on her plate right now. If she doesn't want to go along with it, you must respect her wishes. As I said earlier, if you know you have some mutation, what are you going to do about it?? Is it worth risking your relationship with your mom -whatever time you have left to know?? That's a question that you have to ask yourself - what's more important - knowing that you might have some genetic mutation or spending whatever time you have left in QUALITY time with your mom. Trust me, she's probably already feeling badly enough that she's passed this on to her children/grandchildren. My guess is she doesn't want to hear the confirmation of it. Just my opinion.

Get scoped, talk to your kids, make sure that they get scoped and get a good doctor who will be vigilant about your family's health. That's all you can do.

Jaynee

[Gaelen]

Sylvie, read the information at that link again. It's a good thing to be able to test as many people in the family as possible. But it's not often possible, and at that point testing who you can (yourself) becomes the only goal. 2 women who might be patient zero have passed and can't be tested - and as Raygirl points out, not all genetic markers are testable at this time. So it may be more expensive for your test because you're first, but that's not the end of the world. Also, you haven't mentioned any uterine or ovarian vancer, which usually shows up in affected maternal lines. What if you don't test genetically positive? Seriously, you're still at risk and need careful, more aggressive screening.

Jaynee has good advice. Be vigilant in your own care, inform your kids, get your own self tested if you want to help fill in a genetic family tree. But if your mom declines to be tested, them's the brakes. Family is not always easy, and she's already in the worst place she can be. Fighting with her won't change anything for either of you.

[hannahw]

IMO, your Mom's reasoning is perfectly valid, and even if it weren't, it would still be her choice to make. The good news is that you have other ways of protecting yourself. Regular surveillance is probably your best bet and you're already on top of that.

Heath care choices are difficult no matter what, and made especially difficult when there are potential consequences for other family members. And I'm sure neither you nor your Mom is helped by the fact you have pre-existing issues in your relationship with each other. But consider this, if your Mom is near the end of her life, do you want to spend that time furthering a conflict between you that is unlikely to be resolved (and even if you got the testing it might not give you any insight and even if it did it probably wouldn't change your current surveillance routine)?

End of life is never easy and studies show that conflict, unresolved issues, lack of closure makes it all the more difficult for both the person who is dying and their family. The opportunity to achieve peace and closure is precious and you are unlikely to get a second chance at doing so.

You can choose to make what your Mom won't do the focal point of your relationship, or you can let it go and focus on what you can control, which is monitoring your own health and doing the best you can to make the time you have left with your Mom as loving and supportive as possible.

No matter how much conflict you've had in your relationship in the past, today is a new day. Turn the page. Because when your Mom is gone what you'll have is memories.

[jjlist]

Sylvie,
I also agree with all the replies so far.
well said people,,,,,
jim

[sylvie32]

Oh dear, dear, dear.... I am literally crying now sitting here reading all your wise words, and underneath your names all your diagnoses and procedures.

I'll post later when I can think better.

Thank you again so much for taking the time to reply.

[babs249]

I agree with those who have said that even if the genetic testing were done, and the results were found to be negative, that extreme vigilance as far as testing for you and your children would still be necessary. My father had colon cancer, diagnosed at age 81, I was diagnosed at age 50, an uncle just died recently from colon cancer at age 88, and we think that at least two uncles who died many years ago died from colon cancer. I have not had genetic testing, and am not planning on doing so. There are many reasons for this. Even if my tests were to be negative, my children would still need to have more frequent and earlier colonoscopies than the general population. Also, I think it could affect the ability to get health and/or life insurance in the future. As much as we may be told this will not happen, I frankly don't believe it. In fact, I believe that in the future information like that could affect one's ability to get a job. I know, it sounds paranoid, but there you have it. Also, many people, myself included, look at our DNA as being very personal, and don't want that information out there available for others to see.

I would like to add here that breast cancer also runs in my family, on my mother's side of the family. One of my sisters died from it, and the other one had it, but it was caught very early, and twelve years later she is still doing fine (thankfully). She opted to have genetic testing done, and the results were negative, but she believes, as do I, that there are genetic markers for some breast cancers that are just not known yet. A radiologist recommended I have genetic counseling for breast cancer (not genetic testing) because of the family history. I did, and it was calculated that my risks of developing breast cancer are pretty much average. So while the genetic counseling eased my mind a bit, I was still reminded to have annual testing. My point here is that the ball is still in my court, so to speak. I still have to take full responsibility and continue to have mammograms, colonoscopies, etc. I am not implying here that you are trying to avoid testing, obviously you are not since you've already had colonoscopies, just that in the end, we really don't know how our own personal genes will behave. Will we be spared cancer, other illnesses? Who knows?

Sylvie, I know how hard it is see your parent go through a miserable disease such as cancer, especially when you know it will probably take their life in the end. I sympathize with you and what you are going through. No matter what your relationship with a loved one has been, it's awful and painful to watch them suffer.