BRCA2 mutation...cancer
July 19, 2013 2:10 PM   Subscribe

Looking for anecdotes from anyone who has been in a similar situation.

So my aunt was diagnosed with ovarian cancer at 52. My grandma died of the same disease at 62. My mom is 62 now and has never had cancer but tested positive for the BRCA2 gene mutation. My sister also has tested positive. I have not taken the test but feel like I must be positive too.

We are shocked about my aunt because she is very fit and eats healthy, doesn't drink booze or smoke..she seriously has the body of a 25 year old. BUT she did have her first and only child after 30, which I've read may increase risk of oc. Also my mom and aunt are Latina (I'm dad is white) which I've heard might mean an increased risk of oc.

I'm trying to process all this. My sister is in pretty good spirits but she has a supportive husband.

I'm 34, never been pregnant and I recently broke up with someone. I'm feeling pretty lonely and pessimistic in general, and now I'm worried I may never have kids. I mean, even if I meet someone tomorrow and get married right away, should I have a child knowing it can increase my risk? And what if I get cancer and die, leaving the child motherless? (I was just reading about Pierce Brosnan's daughter). Plus, is it morally wrong to pass on these genetics to a child?

Anyway, I'm wondering if I should decide not to have my own children. I'm not against adoption but that comes with a whole host of other questions and concerns. Then there the whole prophylactic thing..Some doctors recommend getting everything taken out by age 40 and reduce the risk, but that causes early menopause. Fun!! Ok I know its thats a bit extreme, but then I'm also reading about how hard it is to detect oc and that screening methods often do more harm than good (the fuck?)

Sidenote: I was on the pill for all of my 20s which supposedly reduces the risk for oc, but may increase the risk of breast cancer.

Sorry if I'm all over the place.

I guess I don't know what my question is. I'm reading all the stats already so I guess I'm looking for more person stories from anyone who has faced these tough decisions/emotions. Thanks.
posted by hellameangirl to Health & Fitness (15 answers total) 2 users marked this as a favorite
Hi -- speaking here as an oncologist -- you're asking all good questions. You and your family would strongly benefit from talking to a genetic counselor. There are a number of terrific resources out there. Consider looking at the National Society for Genetic Counselor's website. They are experts in helping people deal with not just the probability (since you're not been tested yet), but the implications of findings associated with an increased cancer risk.
posted by scblackman at 2:15 PM on July 19, 2013 [2 favorites]

I don't have personal anecdotes myself, but I read a really great book by a journalist who tested positive for a BRCA gene. She wrote about her experience dealing with that information, as well as researching and writing about genetics and heredity in a very interesting way. The book is Blood Matters by Masha Gessen.
posted by permiechickie at 2:19 PM on July 19, 2013

A friend of mine has one of the BRCA genes (not sure if it's 1 or 2). She's about your age, just had her third kid, and is planning on having preventive mastectomies, FWIW. She's blogged about it extensively; I'll drop her a line and see if she's got a single link that'll get you her posts.
posted by asterix at 2:24 PM on July 19, 2013

I think scblackman had good advice.

These statistics, any health statistics, are true at population levels. You are an individual, within a population. Your destiny is not determined by your statistical risk.
posted by fontophilic at 2:30 PM on July 19, 2013

My wife's family is/was an ovarian cancer hotspot. Her mom and her mom's twin sister both died of ovarian cancer, as well as other relations. My wife and her sisters (4 total - my wife, a sister, and two twin sisters) were all part of an early study at GWU when the BRCA connection was just being investigated.

Only one of the sisters tested positive. She, unfortunately, has since passed from ovarian cancer.

The three good things: The gene can be tested for. Just because you may have a proclivity to inherit the mutation doesn't mean you will. And, even if you do have the mutation that doesn't mean anything will happen from it.
posted by Benny Andajetz at 3:00 PM on July 19, 2013 [1 favorite]

Oh, and learning about this and waiting on test results, etc. was not an enjoyable experience. But knowing nothing is even worse, I think.

My sympathies, and best of luck.
posted by Benny Andajetz at 3:12 PM on July 19, 2013

I'm sorry to hear about your aunt. I can't offer much in the way of advice. I don't have a family history of breast cancer though my genes do have some other fun things.

I can say that I lost my mom when I was 24 (massive heart attack). I would discourage you from not having kids because you could die young. It's not a pleasant fact of life but parents are not supposed to outlive their children. Losing a parent is hard at any age but I don't feel like I'm motherless. I have a mother. I can talk to her whenever I want. I wish she had been there for my wedding but I know she's at the big dance party in the sky and someday I'll see her there. Good luck.
posted by kat518 at 3:26 PM on July 19, 2013

I have not taken the test but feel like I must be positive too.

This is not a good way to work out if you have the mutation. Getting the test and talking to a genetic counsellor is. There is no substitute for getting the test. You may be wasting your time worrying about something that doesn't exist, or you may be piddling around thinking in hypotheticals when you would be better off having more time to work out whether you actually want prophylactic surgery etc. There are no real substitutes for getting tested and then talking to medical professionals about what, if anything, you can do to reduce your risk.

That said, a word about 'reducing risk'. Sometimes when people get cancer everyone falls over backwards trying to work out why it happened - did they eat the wrong food? work too hard? et cetera - and I think this is often because it's frightening to think that things like this might be down to pure chance. Whether or not you get cancer may not be something you can control, unfortunately. It's also unlikely to be something you will be responsible for. If - remember this is an if - you do test positive for BRCA2, and you decide the repercussions of an early menopause are too unpleasant for you to want to go through it, and you get cancer, it still won't be your fault. It's OK for you to decide what level of risk you are willing to trade for quality of life, and to decide what counts for you as quality of life. It's OK if having kids is tremendously important to you, even if that theoretically raises your risk. The biggest single determinant of your risk is going to be something that is entirely out of your control, namely whether you've inherited the faulty gene or not. You mention that your sister has the support of her husband - if you feel that you're too isolated and alone to deal with the implications of a diagnosis, please consider either engaging your wider support group, or therapy/counselling, or both.
posted by Acheman at 3:38 PM on July 19, 2013 [2 favorites]

My mother has had two occurences of breast cancer. Her mother died of uterine cancer (only she says her mother died of radiation poisoning from the primitive treatment of the time). She has several sisters who have had either breast or uterine cancer, one if whom died but the rest lived. My dad has had colon cancer, a risk factor for uterine cancer for me, and another cancer more recently. My brother had skin cancer in his 30s. My sister has been battling cancer on and off for over a decade. I think she has had four separate occurences and has a new mass, probably cancerous.

My relatives mostly have survived. When someone gets diagnosed, the family pulls together to keep them alive. For example, I flew cross country to take care of my sister and her child for her first mastectomy. Mom drove out to do the housework and stuff every three weeks, after chemo treatments.

My family is also very proactive and reads a lot, etc. My sister has been patient zero in a cancer study for new treatment approaches. When my father unexpectedly survived colon cancer at age 69, the clinic interviewed my mom on tape for two hours and changed their pactices based on what she had to say. They knew she kept him alive after they wrote him off for dead. (Dad live in part because mom came up with excuses to miss radiation treatments as well as effectively treating the side effects and put weight on him at a time when most colon cancer patients are wasting away, unable to eat.)

I also have a form of cystic fibrosis, a genetic disorder. Here are a couple of other things I have said here which might interest you:

Medical outcomes don't work that way (A comment talking about focusing on the piece you can control, which is more powerful than most folks seem to understand.)

Genetic disorders and reproductive morality

Last, I will note my brother had lots of sunburns and smoked, my sister was exposed to some bad stuff for various, in short, there were things that hapened to them other than bad genes. My parents were older when they got cancer. If you live long enough, the odds you will get cancer go up. If you live to be in your eighties, the odds of winding up with cancer go pretty high-ish. I am not real bothered by that. We all die of something.

So, I don't worry too much. I will never take birth control pills again and I feel like the work I have done to cope with my genetic disorder probably reduces my odds of getting cancer, plus I know you can fight cancer. My sister was diagnosed several years ago with a cancer with an 18 month life expectancy. She flew to another state to get better care than was available locally. Our choices make a difference in health outcomes. It isn't just some random roll of the dice.
posted by Michele in California at 4:01 PM on July 19, 2013

Hi. I come from a long line of women with the BRCA1 mutation. (Pretty sure it's 1, might be 2...) My great grandmother died of breast cancer. My grandmother had it twice. Her sister died of it. My mom had it twice (first time when pregnant with me when she was 27). I got breast cancer when I was 25.

It wasn't a surprise because I had a feeling I'd get it, but waiting for a lump to do anything about it. Why? Well, that day may have never come. My grandmother had two other sisters who never got breast cancer and died of poor health and old age. My mom has two sisters who are pushing 50 and have yet to have any type of cancer. I was young and in shape, and it still happened. Having seen my mom go through it made it easier for me, and I definitely had a "I can do this" attitude. Early detection and awareness was the key.

I am now 31 and am thinking about having kids. I had a bilateral mastectomy so my BC risk is extremely but I could get OC. In fact I've been told I need to figure this out ASAP so that I could get the oophorectomy and just be done with it. It weighs on my mind, but not too much. More of a "huh... oh yeah" Only real difference is that I use a non-hormonal IUD for birth control instead of the pill. If I do have kids am I worried about passing on the mutation? Not really. If I do, so what? I don't want it to keep going on in my family, but I also know as far as genetic disorders go, it could be much worse.

So I know the genetic stuff is scary and can be a curve ball, but it doesn't have to be. I know some people fine the prophylactic mastectomies empowering. I wouldn't have done them unless I had to, which unfortunately was the case. The thing that makes me sad about often people being diagnosed with the BRCA mutations is that I think it easily defines them. Like they feel they have to do things differently. My mom's sisters are just waiting for cancer. It's morbid and sort of annoying, like they want to join this messed up club. My brother also seems to think he's going to get it, and who knows he might? But it just seems like a really crappy way to go through life. If you live long enough, you will probably get some kind of cancer. It sucks but it's not always fatal. I have the mutuation. I'm a BC survivor. And despite seeing the scars every day, I rarely think about that fact.

Feel free to me-mail me.
posted by kendrak at 4:21 PM on July 19, 2013

Response by poster: Thanks for all the responses. I feel better. And I really NEED to feel better because I have a first date with a guy this weekend and don't want to mess it up due to any morbid thoughts going through my head.
Yeah, I have to take the test because who knows, maybe it skipped me? And I need to look into genetic counseling.
I also have to remind myself that my mother is 62 with no cancer so thats a pretty good sign.
posted by hellameangirl at 4:38 PM on July 19, 2013

Response by poster: I did some more reading and I realized I read something wrong: having a child after 30 doesn't increase the risk anymore than never having biological children. So there is that.
posted by hellameangirl at 6:56 PM on July 19, 2013

I'm so sorry you're being battered by rotten news. You do have a lot to consider, and I'd look for a genetic counselor to help you with the facts and the feelings. If you have the BRCA gene, you have options, and a genetic counselor can clarify them. And if you don't have the BRCA gene, good news. Sending you best wishes and a hug.
posted by theora55 at 9:07 AM on July 20, 2013

I have the BRCA2 mutation. Adjusting to this information is a roller coaster. I received my results from an excellent genetic counselor who provided guidance and resources to help me find my way.

Please check out FORCE. If there is a local support group try to attend a meeting. Their national conference is terrific on every level. The website is an amazing resource. There are people in the forums at every age and stage of living with this knowledge. This group really helped me get my life back.

"Plus, is it morally wrong to pass on these genetics to a child"

Every child born inherits pluses and minuses from both parents. Even if you are positive for BRCA2 and your child inherits the gene it is not a death sentence. We are fortunate to know that we have a genetic weakness - with out the knowledge we would lack the ability to make informed choices. After all the children in my family were tested (3 out of 4 positive) my Mother voiced that had they known they would not have had children. All three of us agreed that we were very happy to be here and were glad to have options available to deal with the information. Surveillance techniques and treatments keep improving. By the time your potential child is old enough to be affected options will be even better.

Knowledge is power. Research and reach out for help. Wishing you the best as you a find the path that feels right for you.
posted by cat_link at 10:16 AM on July 20, 2013

The genetic counseling I received with my BRCA test (mandatory in Quebec, where I was at the time) was incredibly helpful. I had delayed the testing until I felt I was ready to go through with prophylactic measures if I tested positive. That was silly of me. There was a whole team of doctors and counselors to help me work out that decision, and no useful reason to stress over it alone.

I don't have that mutation (though due to all of my maternal female relatives being dead, they weren't able to screen for family specific mutations so who knows). If I had I would have started cutting things off and out, single and childless, motherless, as I was at the time (at 27) and still am. The spectre of an almost certain diagnosis would have been more troubling to live with than the adaptations necessary to a different body.

I would say go get counseled, go get tested, and enjoy your time with your mother and sister!
posted by Salamandrous at 12:14 PM on July 20, 2013

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