I live in a bubble

A BRCA bubble. I know a lot of women with BRCA mutations, and a lot of men too. I spend so much of my life talking with these fellow mutation carriers, doing research and writing, and doing work for FORCE that being a mutation carrier seems to me to be totally normal. But every once in a while I am reminded that to much of the world we are an oddity. Yesterday was one of those days.

We held an LA FORCE outreach meeting at my house with 43 women and two men (my husband and another spouse). As with all of our outreach meetings we had a amazing and powerful group of women. We have a cadre of women who have been regularly attending meetings for many years and who now have connections on many levels. One of these women came yesterday and brought her daughter and very new granddaughter and we were thrilled to be able to celebrate the the birth of this little one as well as the end of the BRCA legacy for her as our friend's daughter has tested negative for the family BRCA mutation.  Her relief that her daughter and new granddaughter do not have to face her high risk of breast cancer is cause for celebration in our group.

Our group is diverse. We have young women in their early 20s some of whom have already chosen preventive mastectomies and others who are managing their risk through the recommended surveillance regimens. Yesterday's meeting brought together women who were long-time breast cancer survivors with women diagnosed with breast cancer within the past 60 days; women who had never attended a support meeting and who had never met other BRCA-positive women with women who are veterans in the BRCA community; women who are contemplating surgical risk-management options with women who were less than two weeks post mastectomy and women who are many years post mastectomy; women who are contemplating surgical menopause with women who have entered surgical menopause as well as women who are ovarian cancer survivors; women who are starting chemotherapy next week with women who are on the other side of their cancer treatment; women who know their BRCA status with women who have not yet been able to face genetic testing, even in the face of strong family and personal history of breast cancer. Our community is a wonderful tapestry of individuals and stories with a depth and richness that can be found in few other places.

I am so enmeshed in this community that I take it for granted, which I should not. Several things happened yesterday that reminded me that I should not take our community or our meetings for granted. We had several newcomers to the meeting who were strongly moved by the experience. We had a woman newly diagnosed with a BRCA mutation whose family (outside of her strongly supportive husband) was not only unsupportive but also mystified as to why she would embark on this BRCA journey. She had not met any other BRCA-positive women before this meeting and was feeling very isolated. She left feeling empowered and connected. We had a woman who had been diagnosed with breast cancer in 1971 when, as she said, not only did the medical community not know anything about BRCA, they didn't really know how to treat a very young woman with very aggressive breast cancer. Her treatment, a radical mastectomy and a lengthy chemotherapy regimin, resulted in her long-term survival but was the kind of treatment that would be considered prehistoric by today's standards. This woman announced that she would be the group "grandmother" and expressed her amazement at this support group and its existence, the likes of which had not existed at the time of her first breast cancer diagnosis in 1971. We had two young women, both diagnosed with breast cancer and BRCA mutations  in the past couple of months for whom the experience of this group was very emotional.  We had two other women who had bilateral mastectomies and breast reconstruction within the past two weeks, they had chosen different reconstruction techniques, one with expanders and one with tissue, and this meeting was the first major outing post surgery for both of them.  Both said that despite the fact that they were recuperating and still in need of a lot of rest, they felt a strong need to be present and be part of this powerful group of women. They spoke about managing their current post surgical physical limitations with humor and grace and the women facing surgery within the next few weeks found they left far less scared of what lies ahead for them.

Seeing our meeting through the eyes of others, especially through the eyes of newcomers, renews my gratitude for FORCE and all that it does.  FORCE was founded 12 years ago by Sue Friedman because of her strong belief that no woman should have to face BRCA alone.  She was right.  We are living proof that she was right and we are all grateful to her for her vision in creating what has become to many a lifeline through the troubled waters of BRCA.

The other thing that renewed my appreciation for FORCE and for our LA Outreach group in particular happened at dinner later in the evening.  My oldest son is a very musical kid and is a member of the marching band, the concert band, the orchestra, the jazz band and the indoor drum line at his high school.   Looking at this list you would probably assume that he is a drummer, but he is not.  His first instrument is the trumpet, which he plays in marching band, and jazz band.  He has split his time in concert band between the trumpet and the French horn although will be dedicating his time wholly to the French horn in concert band from this point on.  He plays she French horn in orchestra and a variety of melodic mallet instruments in indoor drum line (don't ask me which ones as I will surely mess it up).

At dinner I sat next to the mother of another over scheduled music kid that I have known for several years.  She is a local gynecologist and I have long wanted to ask her about whether she has any BRCA patients in her practice.  I had not done so because although I am very open about my BRCA experiences, having written about them in Positive Results and on this blog, I tend to be shy about talking about BRCA to people in other parts of my life.  Last night I finally asked her if she had any BRCA-positive women in her practice.

"No," she said.  "It is pretty rare."

I said nothing.

Then she looked at me and said, "do you have it?"

"Yes," I said, "I do."

She then asked me what I had done to manage my risk and we talked briefly about my surgeries and about FORCE.

What struck me most about this conversation was her comment: "Its pretty rare."  Objectively I know she is right, outside the Askenazi Jewish community only roughly 1 in 500 people carry BRCA mutations.  But I had just spent a day with 45 other mutations carriers sharing stories of our families and our history and to me BRCA does not seem rare, or odd, or unusual.  This is my bubble, where BRCA seems normal.

Thanks goodness for FORCE.  Without it I would not have anywhere where I could feel normal in my BRCA skin.


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Gaga for TaTas

A fun and innovative way to raise awareness and money for a great cause!

Slicing and dicing the estrogen data

I love it when the headlines say I am doing the right thing!  You may remember that in December one of the big headlines out of the San Antonio Breast Cancer Symposium was:

Estrogen Alone Provides Protective Effect in Breast Cancer Risk Reduction

This headline caught my attention because this subject is such a hot topic of conversation for women at high risk for breast and ovarian cancer.  We want to know what effect will replacement hormones have on our breast cancer risk if we remove our ovaries pre menopausally and choose to take either estrogen alone or estrogen plus progesterone/progestins to control our menopausal symptoms.

Interestingly, these headlines were the result not of new research but the result of a rehash of old data from the Women’s Health Initiative study.  The Women’s Health Initiative is one of the largest and longest-running studies of post menopausal women that focuses on, among other things, the breast cancer and heart disease risk.  The arm of the study that involved women taking hormone replacement therapy that included both estrogen and progestins (synthetic progesterone) was abruptly halted in 2002 because the study found that women taking the combination of estrogen and progestins had a higher incidence of heart disease, stroke, blood clots, and breast cancer.  Researchers determined that the these risks outweighed the benefits of taking the hormones.   The arm of the study that involved taking estrogen only continued for another two years.  The women in the estrogen only arm of the study all had had a prior hysterectomy.

At the time the estrogen only arm of the study was stopped the researchers determined that although the risk for breast cancer was less for women taking estrogen than for those without any hormone replacement, the risk for stokes was increased.  The more recent analysis of the breast cancer data from the women involved in this trial seems to uphold the initial finding that estrogen alone was protective for breast cancer in women who had had a hysterectomy.

Sounds good right?  Especially for those of us at high risk for breast cancer who choose BSO and hysterectomy and wonder about hormone use after our surgery.

But the devil is in the details.

And the details contain one important caveat:  the risk reduction was only seen in women without a strong family history of breast cancer and without any prior breast cancer diagnosis.  Women facing increased hereditary risk of breast cancer  are not part of the analysis at all.  Where this leaves those of us at high risk for breast cancer who are grappling with hormone use for surgical menopause is with no new information. 

Bummer.

Nonetheless existing information does give reason for optimism in this realm.  Removing the ovaries prior to menopause not only reduces ovarian cancer risk, it also dramatically cuts breast cancer risk, with most studies estimating this risk reduction as approximately 50 percent.  Moreover, studies in BRCA-positive women with no prior history of breast cancer do indicate that the risk-reduction benefit remains regardless of short-term hormone replacement  to manage menopausal symptoms.

It's complicated

Part of the reason I did not do much blogging in the last couple of months of 2010 was that I was doing physical therapy for my shoulder.  Although at first I did not recognize any connection between my shoulder problems and my mastectomies, it turns out that they are directly related.

About six to eight months ago I began experiencing sharp pains running from my right shoulder to my elbow or sometimes my wrist with certain movements, mostly reaching to put my purse on the back floorboard of the car or reaching up to a high shelf in my kitchen.  I sleep on my right side most of the time, OK virtually all of the time.  I reasoned that spending so much time sleeping on my right shoulder was the cause of the pain because I did not recall doing anything specific that might have injured my shoulder.  I tried sleeping on my left side but once asleep I almost always rolled back to my natural position.  I stopped doing various upper body exercises at the gym thinking something I did there might have caused the issue and that if left alone, it might go away on its own.

As time wore on, however, the occasional twinges and sharp pains became more frequent.  By October, every time I reached either up or back with my right arm I would have pain and after the pain, numbness in my hand would linger for several minutes. Clearly, doing nothing and resting were not working so it was time to take action.  I paid a visit to the orthopedist who set my son's arm in a cast several years ago where I learned that my right shoulder joint is out of alignment.  Specifically, the ball of the shoulder joint is being pulled forward from where it should be causing certain movements to pinch a nerve because the joint was not in its proper position.

Why is my shoulder not in the proper position?  Scar tissue is the biggest reason, followed by poor posture and having an exercise regimen that did not sufficiently emphasize the muscles in the upper back.  I learned from my physical therapist that what I had thought was standing up straight did not put my shoulders into proper alignment and therefore could not be considered good posture.  In order to put my shoulders into proper alignment I need to pull my shoulder blades together.  When I did that my left shoulder would be perfectly aligned but my right shoulder stayed stubbornly forward.  My physical therapist put me on my back and stood over me pressing my right shoulder back into proper position.  When I moved my arm up or back when my shoulder was in place the movement was pain free.  As expected, the shoulder did not impinge a nerve when properly positioned.  The problem was that as soon as she took her weight off my shoulder it would pop forward again as if attached to a rubber band.  She told me that much of the issue was the scar tissue in my chest caused from my prior surgeries.  The bad news is that it is impossible to break up scar tissue that is nearly four years old.  The good news is that with a lot of stretching of the muscles and tendons, and strengthening the upper back muscles, I should be able to compensate for the scar tissue and regain pain-free movement.

So I have spent much of the past three months stretching my shoulder and my chest muscles while doing more than a dozen different exercises to strengthen the back of the shoulder and my upper back muscles.  Oh yes, and constantly focusing on posture and the alignment of my shoulders.  I must say, I truly loath some of the exercises, they are awkward and difficult.  But I do them.  In order to operate pain free I need 45 minutes a day just for my shoulder exercises.  And shoulder exercises do not keep me in good aerobic shape.  As the mother of two very busy kids, my days don't always have a lot of extra time, but for now I am doing what I need to do.

The result after three months of physical therapy?  I can now put my purse in the back seat without pain and I can reach things on the top shelf in the kitchen without pain 98 percent of the time.  I can also pull my shoulder into proper alignment by standing up straight and pulling my shoulder blades together.  Granted, in order to get the right shoulder where it needs to be I must pull my shoulder blades together with an exaggerated motion but at least I can get the shoulder where it needs to be without the help of another person, which is significant progress.  When I do have pain I stop, realign my shoulder and try again, which works most of the time.

What I have noticed now is that when I focus on my posture and my shoulder blades, my shoulders are both perfectly aligned.  When I relax my right shoulder pops forward.  Sometimes I stand in front of the mirror to see how much movement the rubber band in my chest causes.  When I relax, my left shoulder moves only imperceptibly but my right shoulder moves about two inches.

When I was contemplating my mastectomies I wondered how I would feel about my decision in future years, especially if I had some sort of negative consequence.  Now I am revisiting this question because it is clear that I am going to deal with shoulder issues caused by scar tissue for a long time, and quite possibly for the rest of my life.  

None of us who choose to have preventive mastectomies does so lightly.  We all recognize that we are making life-changing and life-altering decisions.  We make this decision reluctantly but because we recognize that this is the most effective way to reduce our overwhelming breast cancer risk.  None of us expects or anticipates complications from our surgical choices.  Nonetheless, we all recognize that both short-term and long-term complications are possible.  We are mentally prepared for the short-term possibilities: pain, restricted movement, swelling, post-surgical infection, failure to heal, seromas, etc. What many of us do not anticipate is that complications may begin years after our surgery.

So how do I feel now about my decision to have preventive surgery?  To be honest I have conflicting emotions.  On one hand I am depressed about having to deal with what is likely to be a chronic problem.  On the other hand, I remember vividly the all-consuming fear of breast cancer that pushed me to make the decision to remove my breasts.  I also remember the wave of relief after my mastectomies that erased that fear.

Would I do it over again if faced with the same decision?

Yes, absolutely yes.

But next time I would get physical therapy immediately following surgery to help prevent the scar tissue that is now causing me problems.

For now, I am off to stretch ...


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Is the jury still out?

Prior to my prophylactic oophorectomy, my gynecologic oncologist told me unequivocally that my BRCA status required that my ovaries and fallopian tubes be removed but that I did not need to remove my uterus because my BRCA mutation did not raise my risk of uterine cancer.  We discussed that there are other reasons for removing the uterus at the time of my BSO (bilateral salpingo-oophorectomy), including in my case a desire to simplify hormonal management of surgical menopause by using estrogen alone rather than using estrogen plus progesterone or progestins (synthetic progesterone).

Although my surgeon presented the issue as relatively straightforward, I did not consider it an easy decision.  I didn’t want more surgery than was necessary but I had a few nagging questions: What was the risk posed by residual fallopian tube tissue if I retained my uterus?  What was the risk of uterine cancer should I retain the uterus and how was this affected by my choice of hormone replacement therapy?  What was my risk of cervical cancer given my history of cervical dysplasia (even though more than 10 years in the past) and should this play into my decision to keep or remove my uterus?

We discussed these issues in Chapter 13 of Positive Results and I am lucky that as part of my research I was able to pose these and other questions to a number of experts on this subject.  Consensus at the time was that uterine cancer was not linked to BRCA mutations (despite two small studies that questioned whether it might be linked) and that the portion of the fallopian tube retained at the insertion point of the uterus was unlikely to result in any significant residual fallopian tube cancer risk.

Two studies have come out since the publication of Positive Results that merit some discussion and which may indicate that the jury is still out on whether women opting for risk reducing surgery should consider removing their uterus as well.

The first study, published in the April 2010 issue of Gynecologic Oncology examined the amount of residual fallopian tube tissue left after removing the ovaries and tubes.  The second study, published in the December 2010 issue of the International Journal of Gynecologic Cancer addressed the issue of uterine cancer risk in BRCA-positive women.

The fallopian tube tissue study, entitled “Does risk-reducing salpingo-oophorectomy leave behind residual tube?” was a small study (20 women) done at Cedars-Sinai Medical Center in Los Angeles.  Full disclosure:  Cedars is the medical center where Dr. Gordon works, is the hospital where I had my surgery, and two of the study authors were consultants for the ovarian cancer chapters of Positive Results.

In this study, the doctors examined post-hysterectomy uterus specimens to determine the amount of tubal tissue remaining at the uterine insertion site after surgery to remove the ovaries and tubes.  A strength of this study is that all of the surgeries were performed by gynecologic oncologists and that a single pathologist performed all of the pathology.  Prior studies have shown that the amount of tubal tissue remaining varies widely depending on the skill of the surgeon, which is one of the reasons why many experts recommend that gynecologic oncologists are the best option for women seeking maximum risk reduction from their prophylactic surgery.  The results of this study showed that even with a gynecologic oncologist, most women will end up with some retained tubal tissue near the uterus.  Specifically, this study showed that 73 percent of the tubal sites examined had some residual tubal tissue, although the average amount of residual tissue was small (6mm).  One thing clearly shown by this study is that even when done by highly-skilled surgeons, BSO is likely to leave behind some amount of residual tubal tissue, albeit most likely a very small amount.

What does this residual tissue mean for residual risk?  This question was not answered by this study.  The end of the fallopian tube where it inserts into the uterus is called the proximal end.  Even in the women in this study who had early fallopian tube cancer or early precancerous cellular changes, none of those changes happened in the proximal end of the tube, all were closer to the ovaries.  The same is true for other studies, fallopian tube cancers seem to start in the distal end of the tube (near the ovaries) or the fimbria (part surrounding the ovaries).   Thus, even though BSO is likely to leave a small segment of fallopian tube behind, this alone is not sufficient reason to recommend that women with BRCA mutations also have hysterectomies as this additional procedure is unlikely to improve the risk reduction benefit of the surgery.

The study authors noted that even though improved fallopian tube/ovarian cancer risk reduction is not a reason to remove the uterus in a BRCA carrier, other factors do come into play, including the possibility of uterine cancer being linked to BRCA status; the use of tamoxifen to treat breast cancer because it increases uterine cancer risk; and simplified hormonal management of premenopausal women.  On the other side of the equation are the increased surgical risks that come from the more extensive surgery to remove the uterus.

At the time this study was published, only a couple small studies linked BRCA mutations to uterine cancer.  These were offset by a number of studies that showed no link.  The new study published in December in the International Journal of Gynecological Cancer, entitled “BRCA Germline Mutations in Women With Uterine Serous Carcinoma—Still a Debate” raised this question anew.  This study examined the family history and BRCA status of 51 women with uterine cancer and found that a significant number of these women had a family history of breast or ovarian cancer (33 percent) and that approximately 16 percent of these women had BRCA mutations.  This study raises the issue of a potential link between BRCA mutations and uterine cancer without providing any answers whatsoever.  In fact, the study authors note that there is currently insufficient evidence to make any recommendations to BRCA-positive women regarding removing the uterus or, if so, the potential timing of such a surgery. 

In short, the jury is still out on the issue of uterine cancer and BRCA mutations although this most recent study may signal the need for further study of the issue.  For now, BRCA carriers will continue to make this tough decision in consultation with their doctors without a clear answer from the research.

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Top 10 things I have learned about menopause

1. It is impossible to sleep when you are hot.
2. No more flannel pajamas.
3. No more down comforters.
4. Layers, layers, layers.
5. Hot flashes always happen at 3 a.m.
6. Vaginal drying/vaginal wall thinning are more than a nuisance, they are a pain!
7. Acne does not always end with menopause.
8. Supplemental estrogen helps, but does not eliminate all menopause symptoms
9. Hormonal changes do affect your memory and are likely to be objectively observed by your husband and children.  "Honey, nobody told me that removing your ovaries was going to make you as dumb as a doorpost," my loving husband said recently.
10. See your doctor, there are multiple possible solutions for every problem, except possibly the problem with husbands who don't know when to keep quiet.

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Happy New Year

Happy New Year!

OK, it has been a while since I posted and the answer to why is a bit complicated.  First, Ovarian Cancer Month and Breast Cancer Month back to back burned me out somewhat and I needed a mental break.  Not that I ever got a complete break as I have one dear friend of many years battling her first (and hopefully only) breast cancer occurrence and another  battling stage IV breast cancer.  I am happy to report that my friend M completed chemotherapy in December and is now on the mend.  To celebrate the end of her chemotherapy and her 50th birthday, which was a few months ago, our group of six girlfriends did a mini vacation together without husbands and children.  My friend M works for Princess Cruises so we did a 5 day cruise out of Los Angeles.  I cannot remember a time when I have laughed as much as we did on this trip.  We never got off the ship, ate frequently, and laughed and talked continuously during all waking hours.  I left this trip feeling like I had my batteries fully recharged and one of my many New Year's resolutions is to get back to blogging regularly.

More soon!