BRCA-1 Positive: To Do or Not Do Something Preventative

Bearhitch

I am hoping to get some input and wisdom from ladies who have been where I am.  I am 27 years old and this week had my first scare of finding a lump and all of the tests and worries that came along with finding out that it was not anything to worry about.  The biggest thing I have taken away from this past week was how inconvenienced I was with all of the appointments and stress!  It is bad enough having an MRI and then mammogram every 6 months, and the appointments for exams every 6 months... but to add this on top of it is taking a toll.  I have been praying and just thinking about looking into a preventative surgery.  I know it will not completely remove all risk but I feel like doing that will eliminate all of the testing and that I did everything I could to lower my risks and be healthy for my family and 3 young children.  

My biggest concern is that it is a major, permanent thing and I am doing it to myself - if that makes sense.  It is one thing to actually have cancer and undergo surgery and pain... but this is more elective in nature.  I feel conflicted about this, because I know there is pain and recovery and cost and - I just, would love some feedback regarding this.  

I feel like I lean towards doing a masectomy without reconstruction but we are also considering the nipple sparing / skin sparing procedure, so any thoughts / experiences with that would be lovely as well!

farmerlucy

Hi Bearhitch - I'm sorry you are having to deal with this. I am not BRCA positive but I do have an extensive family history. I was much older than you when I decided to have a PBM (51 yrs). Unfortunately mine didn't turn out that great as a small IDC was found in the final pathology. This is not that common. I do understand the decision process and how onerous and expensive the screening is. You don't have to make any decisions immediately. 

 I was leaning towards no recon, but my husband and daughter talked me out of it. The recon is fine, great even, but I do sometimes wonder what it would be like not to have done it. If you choose to do the surgery and you choose to do no recon you could always do it down the road. I assume if you go that path you will probably not save your nipples, but reconstructed nipples or even 3D tattoos are a good option. If you haven't already check out the FORCE website.

You are very brave just to get the testing.  I know it seems like you were dealt a terrible hand, but knowledge is power, so at least you know you are as risk and can do something about it proactively.

In terms of the surgery with TE and then implants, it was not easy, but doable. My BS told me that a mx without reconstruction is generally much easier and the recovery time is only a matter of about three weeks.

Whatever you decide it will be the right decision. If I can help in any way please let me know.

Bearhitch

Interesting so you even wonder while having implants if you should have done the other option... that is encouraging to me actually.  I have a wicked family history of breast cancer and knew my mom had the gene, and I knew their screening recommendations started at age 26 so I knew I wanted to know so I could stay healthy.  Now it is just a matter of what I want to do.  After this scare, I realized how fast things can change and develop and honestly - I am terrified to get cancer and have to do chemo and lose my hair!  Ultimately I am fine losing my breasts but my hair... different story!

inks

I am BRCA1+ and would have loved to be in your position to do early screenings even if they are accompanied with increased anxiety. But you should not simply base the decision to do prophylactic mastectomy on one lump scare. Try to go and have a consultation with your genetic counselor or other professional again. You should not have surgery just because you are scared, you need to base it on the facts and benefits to you. But if you feel like screening is not enough for you and you do want to take more active measures a consultation with a breast surgeon and a plastic surgeon would be a place to start. As far as cost is concerned - you are already dealing with the cost of the screenings. If you end up leaning towards mastectomy you really need to seriously consider reconstruction and the studies about quality of life, self image and all the emotional effects  - and again your surgeon would be most helpful to discuss the benefits of reconstruction. While all surgeries have risks my own experience so far has been that at the age of 37 mastectomy and reconstruction have been fairly painless and easy. And try to find a high volume breast center hospital. I wish you the best of luck with your tough decsisions!

Bearhitch

It isn't so much of being scared it is the inconvenience and tiresome constant screenings and tests and possible future scares and that taking more time and more testing and that.  I have already consulted that financially little would come out of pocket for the masectomy - I am not really considering reconstruction.  

Did you have a full masectomy then and then the reconstruction or was it the skin sparing procedure?  

besa

If you haven't already seen it look at the web site www.facingourrisk.org  Many women in your situation making the same decisions.  Lots of information and help there...

inks

I had a bilateral mastectomy with immediate delayed reconstruction (they put in the tissue expanders at the time of mastectomy and you will have another surgery to get implants put in). I chose this reconstruction because I have a 2 year old baby and the recovery is longer with the reconstructions where they use your own tissue. I was out of the hospital in less than 24 hours from the beginning of the surgery. You would have to see if they would recommend a skin or nipple sparing with being BRCA1+, I had no choice because I had 18 tumors, but prophylactic mastectomy is a whole different issue.

And keep in mind you would still have to continue your ovarian cancer screenings. I am so close to being 40 years old I might just get my ovaries out next year.

jsjherman

I have recently found out that I am BRCA1 positive and am a co-survivor with my mom who is a 31 yr survivor. I meet with the surgeons on the 24th to discuss my options, but I am leaning towards having the bilateral mastectomy and the removal of my ovaries. With my mom, aunt and cousin all having breast cancer and my aunt having ovarian cancer, that I have the chance by the grace of God to be proactive and preventative. I am thankful that the lump in my breast is not cancerous at this time, but feel the sense of urgency to take control of this. I am keeping an open mind as to the options,  but cannot think of a single reason for me not to have the surgery. I am blessed with a loving and supportive family who feels as I do in that your breasts and female parts do not define you as a woman. It is your heart, your spirit and your mind that do. I would love any feedback and welcome all discussions on the pros/cons of doing so.

Bearhitch

The only thing I can think of would be before removing your ovaries would be to consider what that entails.  Every doctor I have talked to has said to not do that (ovary removal) until age 35 at the VERY earliest because the estrogen loss is so hard on your body and can have long term health consequences - one of the main ones being cardiac problems.  Otherwise I am right there with you sister, except my husband and I do not agree on the timing.... he is afraid of the risk of surgery involved.  

jsjherman

I am soon to be 44 and my husband is also worried about the risk involved, but is more concerned about the outcome should we wait. I consider myself extremely lucky to have made it this far without getting cancer.

Circassian

Bearhitch:

Very sorry yet remind something comforting you don't have cancer yet.Your the same age as my sister and only sibling age difference 14 years so dynamics more a third parent. I will grant you same open-talk gave my sister the first thoughts how inform her as doctors confirmed Stage IV Breast Cancer. Your "Quality of life" against cancer might exceed the rest of us. That open discussion what you need to know.

Information Management

The first my family having an entire genetic disease mapping as at the time engaged with clear thought children and their well-being. I knew the family history (various cancers, heart disease & ect.). I didn't get married -eh it happens cancer intimidates people some won't react well. The best advice get your test don't panic as there will be family members that never succumb these illnesses. As DNA is a genetic code we don't acquire our genetics fairly. It can be a dominant or recessive gene till actually diagnosed you don't have cancer. What this test grants you, doctors taking your family medical history that believe you need more aggressive preventative screening and finding that doctor that will advocate for it on your behalf! 

***Then the real work valid research can life style changes and new innovations; effectively improve your odds decreasing diagnosis, reduce severity and increasing recovery. 

I will be honest before my diagnosis took my mother kicking and screaming towards her first mammogram and confirming a suspicion over 16 years ago. Here first symptoms appeared 2 yrs and she remained silent till she couldn't hide it. The treatment then versus mine are radically different our diagnosis different her's early and aggressive with symptoms and mine late stage, no-symptoms and super aggressive hidden under another medical condition missed for 8 months despite regular medical care. At possible stage I or II mother had a much harder time then my Stage IV with advanced Lymphedema. 

New Innovation

Just recent news in the field of cancer advancement called "Genetic therapy" has been tested on the most severe advanced "Childhood Lukemia" where turnaround to the five year survival cancer free unheard of at dire stages that survival realistic. How it works they take your cancer gene alter it "genetically engineered" with hyper aggressive immune cells (making a sort of vaccine)...imagine your genetic code genetically engineer then innoculate a genetic therapy that reprograms your immune system treating cancer such as the common cold or flu. This technology exists but not available today as testing in infancy (they haven't tested for other cancers yet if it will work on all cancers, nor know how they will be able make this new technology economic accessible yet and production quality or efficiency (will every dosage be spot on safe, effective and able meet demand). 

**Don't regret your advantage that those today that aided advice will die or never benefit a new cancer treatment; you may one day know as common either prevention diagnosed care or possible treatment if you're diagnosed years later. All disease is a war some are drafted as the best warriors see this war won one day through the battle survivors and the memorialized. I was born before the chickenpox vaccine that may also eliminate shingles odd but that vaccine became available 5 years after getting chickenpox and Human Papomillomavirus vaccine that will decrease the odds ovarian cancer.

So, don't let fear the information dominate anything you may regret later? Use it map out a plan tailored enjoying your life; if early surgery the side effects weight what are the advantages you give up toward your quality of life "managing what is the best choice for you"- with information question the odds alternatives, advancements and quality these choices really are your best choice ask more than one source compare.

All information not equal nor quality:

1) Landscape of medicine is changing so fast what is common today obsolete tomorrow. Largest issue adapting newer treatments.

2) not all information applies to ever individual there is general and specified (the type genetic treatment, your age, lifestyle & general health). Some cutting edge therapies that seem like future cure may be limited to specific groups this sadly may die as per value medical industry is limited by money offering accurate treatment versus generalized. Often the resource providing it is too limited or have ethical challenges.

3) Know thyself (are you disciplined a lifestyle change, able tolerate the treatments and vigilant to know the littlest change yourself react appropriately) Are you committed plan for you, if obstacles life interfere your early detection and the value your quality of life not others views it should be.

**4) Gather organize your information know the options two purposes: when, its best implement what medical options (age, type medical option and it's validity) and where are the vest sources for that care yes update this information yearly. This one act will increase so many advantages to streamline your care as once diagnosed or nature when the risk milestones highest toward taking the best action or better alternatives become avail a better choice (planning, managing disease & quality normal existence is hard) know identify changes that may or may not occur in your diagnosis that alerts serious or nothing to worry about a quick resources link.  

I will state the fact your inquiring now says a lot you will have the best quality of life...My family avoided the discussion senseless for generation (we lost too many loved ones) my diagnosis and experience wouldn't wish upon even the most vile enemy despite resistance "Forcing the discussion with my family regardless"  

Best wishes for you and your family 

cocourt

Bearhitch I was/am in a very similar place as you. I'm 29 and found out I was BRCA2+ late last year. In the couple of months after I found out, I think I was averaging 2-3 Dr. appointments per week just getting baseline tests done and setting a therapist to help me process things. It was stressful, but going through all that made me realize that a prophylactic surgery was right for me. The anxiety of the follow-ups and tests was just too much and I knew I'd have more options (in regards to the type of surgery and timing, etc.) if I made the decision before I got a breast cancer diagnosis. 

I'm 3 weeks post nipple sparing pbmx (with expanders) and although I had a day or 2 when I thought "why in the hell did I DECIDE to do this to myself when I didn't have to?" I've mostly had a huge sense of relief. Relief that I don't have to worry (as much) about whether I think that's a lump or if I can't decide if my nipples are sensitive because I'm PMS'ing or because they're trying to tell me something. Relief that I know I can handle this and that I'm making choices that will probably keep me alive and able to be with my friends and family longer. 

In my situation, the pain and recovery has been very tolerable. When reading stories about people's recoveries, be sure that you're reading ones from women who don't have a BC diagnosis and who are close to your age. For the most part, the recovery is much easier when you're younger and healthier. I started working from home 2 weeks post-surgery and was back at the gym after 2.5 weeks. It's a blessing to have the knowledge we do and it gives us a lot of options that other women (unfortunately) don't get. 

My insurance company has covered everything (aside from my $3k max out of pocket for the year) and they're legally required to cover a reconstruction if they cover the mastectomy, so I'd urge you not to rule that out. I'm generally a petite/athletic build, so although I had smaller breasts, it's still nice to put something back on my chest (just my opinion). AND, now I don't have to wear a bra and my chest looks great (well...relatively, considering I still have expanders). So for me, the whole thing has really been an opportunity to make lemonade from the BRCA lemons. I'm very happy with my choice.

Hope that helps in your decision-making process. I know it's not an easy one. 

Radical2Squared

I'm not big on offering advice because we are all so different. At 36, I found out I already had triple-negative breast cancer in both breasts. Genetic testing or not, I had no choice. No one in my family had ever had breast cancer before, still, with Jewish ancestry, I was interested in genetic testing. I feel like I broke records all around when I found out I have a BRCA1 mutation that is thousands of years old and not another sole in my family ever had breast cancer.

Though the more frequent testing and likely biopsies that follow are annoying, keep in mind that removing your breasts still only reduces your cancer risk. I am happy to see others have mentioned ovarian cancer. People without a BRCA1 mutation have a very low risk of ovarian cancer. We BRCA1 chicks are almost pushing 50 percent and it's much harder to detect ovarian cancer than breast cancer.

I'm not married. I have no kids. I'll be starting chemo for my breast cancer as soon as I'm healed from surgery. My doctors are putting a lot of pressure on me for the removal of my ovaries in the next 4 years. I wish I'd gotten married and had at least one child before losing all these reproductive parts! Lol

The testing is annoying, but at your age, you still have uses for some of the parts you're considering removing! Remember, even with reconstruction, your doc's goal is to make you look awesome with clothes on...things are different with the clothes off.

Bearhitch

I know that I will still have to worry about ovarian cancer but there is just nothing I can do about that right now until I am 35.  Every doctor I have talked to has pushed how removing them before that age causes many health issues, primarily cardiac problems, from the lack of estrogen.  So, I don't really feel like I can do anything about that.  With BC though, I do have an option.  Ultimately I did decide to pursue the surgery and have it scheduled for the 21st of this month.  As the day inches closer, I find myself anxious and scared - still feeling in my heart that it is the right decision, but feeling sad for losing a part of myself and thinking about the pain - what that will be like afterwards.  I really appreciate everyone's input and comments   

DiveCat

Bearhitch....

I am just over one week out from my PBMX with recon (direct to implant). As you may remember, I am not BRCA+, but am high risk. At LEAST generations of women before me, my direct ancestors, have all had BC, two of them pre-menopausal onset...all, now that my mother has just been diagnosed within last month with a recurrence, ending up with mets (I only found out this week, after my surgery). Though my official risk assessment for BC was 40%, I did not want to tempt the odds with that history. For others, like my sister, it is something they can live with. I could not. "Catching it early" has not proven to work so well in my family.

One poster above said the PS goal with recon is to make you look awesome in clothes. Maybe every PS is different, but in my experience with myself and with many other women choosing PBMX, there is a desire by many surgeons, one that is often accomplished, in also making things look awesome without them. I have seen some fantastic looking recons. I may still have bruising, stitches, and healing tissues, but to be very honest, I am already very happy with how things even look naked. I actually think I might like their appearance much better than my originals even now, and is really did not mind the appearance of my breasts before. I am not personally that worried about loss of sensation as I had painful breasts before due to fibrocystic condition, so they had sort of lost their physical enjoyment.

I have also been very lucky to have a very, very good recovery so far. I feel very good, at this point minimal to no pain, went off prescription painkillers within 3 days and onto OTC, and even the tightness is drastically reduced since drains came out yesterday, I am very mobile, have lots of energy, and am able to go for very long walks everyday, 4-6 miles (cleared by PS as long as I take an easy pace). I have even started doing some work from home in the last couple days (I tried to avoid it but, ah, I just could not!). I am relatively young (34), very athletic and fit/healthy before surgery. In fact, I feel so good I need to very consciously make sure I am still "babying" my arm movements and breasts. Just because I can does not mean I should!

Of course recon is a personal decision, but I wanted to chime in with another positive (so far!) recon story. 

I know PBMX did not completely eliminate my risk of BC, but I do know it did greatly reduce if and I feel a sense that at least I did for ME all I could. It is not the right choice for all, but for me it was, and I have not had one regret yet.

Good luck in your surgery and recovery!

Itiswhatitis2

Hi there,

Being BRCA positive, having lost my sister and having every female on my maternal side diagnosed at least 2 times each, I still struggled with "what should I do".  I had the hysterectomy soon after I had my BRCA test results, that was easy for me I was older and already had  my children.  

The mastectomy decision was an ongoing struggle, after numerous scares, some quiet time, I finally made a decision.   I'm now actually one week out from having the DIEP.  Not one time since I woke up from the surgery have I regretted it, I no longer have that struggle of making the decision, I was scared that the decision would be forced upon me one day so making it myself instead of waiting until I was given a diagnosis of cancer gave me a sense of peace.  The pain was hard the first few days but is easing up now, I'm still swollen but so far I'm thankful to say that my PS did an amazing job.  

I hope your find your peace with your decision.