Silver linings

We often focus on the negative effects of surgical menopause to reduce ovarian cancer risk: the hot flashes,  the sexual side effects, dry skin etc.  But today I thought I would put together a list of the positive side of removing my ovaries.  Here is my list of the things that are great about no longer having ovaries:

1. No more fear of ovarian cancer.
2. No more periods, period.
3. No more anxiety from ovulation cysts that show up on my screening ultrasounds that result in repeated trips to the doctor and sleepless nights.
4. No more cyclical bloating and weight gain.
5. No more PMS.
6. No more yeast infections (so far!).

I was hoping to come up with a list of ten, but so far this is all that comes to mind.  Please add to the list with your own.  We spend so much time focusing on the negative that I think an attitude of gratitude can be found by a little focus on the positive.

Joi

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Happy anniversary Positive Results!

Today is the one year anniversary of the release of Positive Results!

A lot has happened in the the past year and we would like to take this opportunity to give both a quick review of the highlights of the year and to say a heartfelt thank you to all who have supported us, all who have purchased Positive Results, all who have recommended it to their friends and doctors, all who have sent us emails of appreciation, all who have written reviews, and all who have joined us on Facebook and on this blog.

Highlights from the past year include several studies that assess the risk of breast cancer after prophylactic mastectomy in BRCA-positive women, including:

• A March 2010 study in the Annals of Surgery, which concludes that prophylactic mastectomy "is highly effective in preventing invasive breast cancer in BRCA1/2 mutation carriers. Since the remaining risk is less than 0.2%/woman-year, continued surveillance of the asymptomatic carriers is not warranted."
• In contrast to this finding was a Danish study published in January 2011 the journal Clinical Genetics, which finds that post mastectomy breast cancer risk in BRCA carriers might be higher than previously thought and further surveillance of carriers after mastectomy might be needed.  We blogged about this study here.
• However, the largest study to date, published in September in the Journal of the American Medical Association found that prophylactic mastectomy was highly effective at reducing future breast cancer risk and in fact none of the women in this study who had prophylactic mastectomies went on to develop breast cancer.  We blogged about this study here and here and in fact our September 1, 2010 blog about this study remains our most popular blog post ever.

Other highlights from this past year include:

• April 2010: 
• Library Journal published a glowing review of Positive Results concluding: "VERDICT Morris's story and that of other women and men highlight the difficult choices involved. Full of practical advice, this book will be a boon to those at risk for breast cancer as well as their caregivers."
• San Francisco Book Review published a review that concluded: "Women with breast or ovarian cancer, their doctors and caregivers, and each and every single one of their family and friends — should all read this book."
  
• April 2010: A study about risk reducing bilateral salpino oophorectomy was published in the journal Gynecologic Oncology, which found this procedure may frequently leave behind small amounts of fallopian tube tissue, although what that means for future fallopian tube/ovarian cancer risk is unclear.  We blogged about this study here.
  
• June 2010: Dr. Gordon spoke at a session at the 5th Annual Joining FORCEs Conference.
  
• August 2010: Joi had surgery to remove her ovaries and her post Adios Ovaries remains one of our most popular posts.  She has done seven posts about her surgery, recovery and surgical menopause to share her story with others.
  
• September 2010: The creation of National Hereditary Breast and Ovarian Cancer Week and National Previvor Day.
  
• October 2010: 
• Dr. Gordon appeared on CNN in conjunction with Breast Cancer Awareness month.
• Dr. Gordon spoke about genetic discrimination at the 10th Annual Women's Health Conference in Pasadena, California.
• February 2011: Ms. Magazine published an article by Joi about genetic testing on their Ms. Magazine Blog.

In addition, a number of studies have been published about hormone replacement therapy and breast cancer risk.  None of these studies, however, have been in BRCA-positive women and therefore have done little to advance the knowledge base for managing surgical menopause and breast cancer risk for these women.

We look forward to sharing another eventful year with you.

Joi & Ora

Metastatic hereditary breast cancer research

For those of you who have been to a FORCE LA Outreach meeting you have heard me talk about the importance of participating in research studies so that we will have better answers in the future for those facing hereditary breast and ovarian cancer.  I feel strongly that our daughters and granddaughters will only have the information we need if we participate in research studies.

Metastatic breast cancer is a devastating disease and has taken the lives of too many women I know in the past few years.  40,000 women a year die of metastatic breast cancer each year.

For me, one of the names included in the mind-numbing statistic is Julie Ann Carpenter, a beautiful and vibrant woman my age to whom Positive Results is dedicated because she believed that information is power and because she desperately wished she had known about BRCA before breast cancer came knocking at her door. I remember the day she sat on the sofa in my living room and said "I have mets." I was shocked. We had just finished a workout and Julie looked to be the picture of health. She certainly did everything in her power to beat the disease, trying a succession of treatments, including experimental treatments as part of clinical trials. Some of these treatments bought her many months apparently disease free and looking as healthy as she did the day she told me her cancer was metastatic. In some cases she had more than a year of good health and time with her family and friends. Nonetheless, this relentless disease eventually took her life.

Researchers believe that BRCA and other hereditary metastatic breast cancers may respond differently to treatment than other breast cancers. The first step in determining the course of future research is to survey women with hereditary metastatic breast cancer about their treatment and response to treatment.  FORCE is participating in this research and so should you.  If you or someone you know has metastatic hereditary breast cancer please ask them to complete the survey at the following link.  It will only take a few minutes.  

https://www.surveymonkey.com/s/BTZQSJV

Creating a safe space to talk about cancer risk

Sue Friedman, founder of FORCE, Facing Our Risk of Cancer Empowered, talks about surviving breast cancer, and how it led her to create a resource for at risk women to learn, ask questions and share their stories. After learning about her BRCA status, she became appalled at the preponderance of misinformation and at the lack of support available for those with hereditary cancer or hereditary cancer risk. Sue took action so that no one would have to face these risks and fears alone.

FORCE's mission is to provide support, education and advocacy for families facing hereditary breast and ovarian cancer. The annual Joining FORCEs Conference is June 23-25, 2011 in Orlando, Florida.

Video courtesy of What's Your Calling?
Interview & Camera by Rachel Pikelny / Editing by Neco Turkienicz / Produced by Rachel Pikelny

Breast cancer after prophylactic mastectomy?

“You have breast cancer” are the last words any woman wants to hear. But women facing hereditary breast and ovarian cancer risk who opt for prophylactic mastectomies hope never to hear these words. Avoiding breast cancer is why these women take dramatic action to reduce risk. So when a new study comes out that may indicate that residual breast cancer risk is higher than previously thought, alarm bells start sounding in the high-risk community. The journal Clinical Genetics did publish such a study recently. This study, entitled Breast cancer after bilateral risk-reducing mastectomy is based on research out of Denmark involving 307 BRCA-positive women, 96 of whom chose to have prophylactic bilateral mastectomies to reduce their risk.

On one level, the study’s finding are concerning. Three of the 96 women developed breast cancer 2 years, 5 years, and 7 years after prophylactic mastectomy respectively. All of these women were BRCA1 positive and all of the cancers were triple negative. These numbers led the researchers to alarming conclusion that the breast cancer risk after preventive mastectomy for BRCA-positive women is roughly 10 percent, almost the same level of risk as the average risk women.

It is easy to panic when confronted with this conclusion but a closer look at the study, its assumptions, and other studies of breast cancer risk after prophylactic mastectomy are necessary to gain some perspective on the issue. It is dangerous to focus exclusively on any one study, especially when it has a relatively small sample size.

We are in early days for the results of studies that estimate the residual breast cancer risk of BRCA-positive women after prophylactic mastectomies with only a handful of studies having been published thus far. The largest study to date involving 2482 BRCA-positive women analyzed the effect of both prophylactic mastectomy and prophylactic bilateral salpino oophorectomy on future cancer risk.  This study, entitled Association of Risk-Reducing Surgery in BRCA1 and BRCA2 Mutation Carriers With Cancer Risk and Mortality, was published in the Journal of the American Medical association September 1, 2010 and we blogged about it in our post Beyond the headlines: Prophylactic surgery reduces cancer risk and saves lives. Interestingly, in this study 247 women chose to have prophylactic mastectomies and none of them developed breast cancer, which resulted in the conclusion that prophylactic mastectomies are highly effective at reducing breast cancer risk in BRCA1 and BRCA2-positive women. BUT the study made no attempt to statistically quantify the remaining breast cancer risk because such a calculation was not possible given no breast cancer events in the preventive mastectomy group.

A 2004 U.S. study had results more similar to the Danish study. It involved 483 BRCA-positive women 105 of whom chose prophylactic mastectomies. Two women in this study developed breast cancer after preventive mastectomies, one was diagnosed with breast cancer in her lymph nodes less than 2 years after her preventive mastectomies and the other was diagnosed with breast cancer 9 years later in what was described as "significant residual right breast tissue" that had been left after the prophylactic mastectomies.

Statistical analysis of risk reduction in these studies is complex business involving a discipline called biostatistics.  In calculating the final residual risk number the statistical analysis involves a number of assumptions and complex calculations involving the raw data. Changes in any of the assumptions will change the end result and may account for why the Danish study resulted in a seemingly large residual risk analysis.  We leave the statistical analysis to the mathematicians but raise this as one thing to consider when confronted with a study conclusion that seems alarming.

Unfortunately, more years of follow-up and more published studies are needed before the experts will have a good handle on the amount of breast cancer risk that remains after preventive mastectomies.

What lessons can be learned from the research so far?

While the conclusion from this new Danish study should probably be taken with a grain of salt, it nonetheless raises issues that women should discuss with their doctors and one thing is clear: prophylactic mastectomy does not totally eliminate breast cancer risk.

Another thing that comes through from the studies to date is the suggestion that the residual risk is directly affected by the amount of breast tissue left by the breast surgeon performing the surgery. In the 2004 U.S. study, both of the post-mastectomy breast cancers occurred after subcutaneous mastectomies, which generally leave behind a greater amount of breast tissue than does a simple mastectomy. In the Danish study all three of the women who developed cancer had simple mastectomies but the study authors nonetheless placed most of the blame on breast tissue that should have been removed. One of the three breast cancers occurred two years after the mastectomies and was already metastatic with a small tumor in the residual breast tissue that the breast surgeon had not removed in the axilla (under the arm). The study authors speculated that because of the presentation it was likely that the cancer either had been present at the time of the prophylactic mastectomies but was not found by the pathologist or that it subsequently developed in the breast tissue under the arm that had not been removed. The study authors concluded that “inadequate surgery” was the probable cause of the other two post-mastectomy cancers.

On the other hand, the 2010 JAMA study authors noted that their “observation of no prospectively identified breast cancer cases may be due to biases in prior retrospective studies or to improved surgical techniques.” Further studies will hopefully determine whether surgical technique and/or skill of the breast surgeon play a role in residual risk. The studies to date suggest that maximum risk reduction likely comes from high-risk women being treated by highly-skilled specialists who remove the maximum amount of breast tissue. If this proves to be true, women considering prophylactic mastectomies may need to choose their breast surgeon even more carefully than they choose their reconstructive surgeon.



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We CAN handle the truth

The BRCA genes were discovered in 1994 and 1995 but when you visited your doctor those years, or even when you visited anytime until the early 2000s, chances are that your doctor did not recommend that you test for mutation on the BRCA genes. Why?  Because the paternalistic feeling of much of the medical community was that women who might be carriers of mutations couldn't handle knowing their risk.  In fact, in 1998 an esteemed panel of experts convened a conference at Stanford University to decide what to do with the newfound ability to test for these genes.  Their conclusion?  Genetic testing should not be recommended:

"Genetic testing for mutations in BRCA1 and BRCA2, which are associated with increased lifetime risk of breast and ovarian cancer, may become the first widely accessible genetic testing for common adult onset diseases. The Stanford Program in Genomics, Ethics, and Society convened a multi-disciplinary Working Group that, in a lengthy process, studied the ethical, legal, and social issues arising from testing. The Working Group concluded that testing for mutations BRCA1 and BRCA2 genes is not appropriate for widespread clinical use or population screening, but may be beneficial in some circumstances—for example, in families experiencing multiple cases of cancer. Testing would raise fewer problems if definitive preventive interventions were available for those with the mutations, and if society better protected people with genetic risk of cancer. Even with current limitations, competent adults at high risk may choose to participate in a testing program. Such programs, however, must meet rigorous standards, including genetic counseling, confidentiality, and follow-up care. Health insurance should pay for all components of testing when it is appropriate; governments should take steps to protect people from discrimination and invasions of their privacy, as well as from the offering and advertising of inappropriate testing. We call on governments, researchers, insurers, testing laboratories, healthcare providers, and individuals to take important steps to help ensure that testing for BRCA1 and BRCA2 mutations, surely a forerunner of the many forms of genetic testing that will follow, improves people's lives, and does not diminish them."

In fact some doctors went so far as to test women for BRCA mutations but then refuse to tell them the results because they thought the knowledge would be harmful.  Other experts at that time concluded: "there are no known methods for preventing breast or ovarian cancer that would be particularly important to women with versions of these genes."  Essentially, doctors were throwing up their hands and saying they didn't have any good options and that knowledge was a dangerous thing.

Fortunately, times have changed.  Medical experts now agree that genetic testing for BRCA genetic mutations saves lives and alternatives are available.  And the feared phycological harms have not materialized.  Numerous studies of at-risk women have been conducted over the past decade and the consensus is: women can handle the truth!" Studies of individuals receiving such genetic information suggest that those who do not carry 'at-risk' genotypes derive psychological benefits, while those identified as 'at risk' show no adverse effects," proclaimed a 2009 study in the British Journal of Psychiatry.

Does this mean there are no phycological impacts from genetic testing and discovering you are at genetically high risk for cancer? No.  Learning you are at high risk for cancer causes stress, no doubt.  Joi and the other men and women profiled in Positive Results candidly discuss the emotional toll knowing about a BRCA mutation can take.  But they also show how this knowledge can be empowering, allowing them to escape the fate of cancer that has stricken other members of their family.

Earlier this month, Ronald Bailey, science correspondent for Reason and author of Liberation Biology: The Scientific and Moral Case for the Biotech Revolution posted Bioethicists Can't Handle the Truth, where he discussed the conundrum of testing for genetic markers for Alzheimer's disease and likened the current state of affairs to the recommendations for genetic testing for BRCA mutations in the late 1990s.  Specifically, bioethicists and genetics professionals generally do not recommend testing for increased risk of Alzheimer's disease because at this time medical science has no cure.  Again, the rationale is paternalistic, if there is no treatment option, why subject individuals to the increased emotional stress of knowing they are likely to develop this disease?

The reason this is currently a hot topic of conversation is that personalized genomics – knowing the content of your individual DNA genomic sequence – is now affordable and widely available to the general public, made possible by major advances in technology and scientific knowledge over the past several years. In fact, Science magazine called the advances in personalized genomics the "breakthrough of the year" in 2007.

But in fact the "breakthrough" in personalized medicine came in 1994 with the discovery of BRCA1. This is why researchers and commentators alike are looking to the hereditary breast and ovarian cancer community for answers on how consumers cope with genetic knowledge.  BRCA mutation carriers are on the front line of personalized medicine.

And yet, the analogies are not always appropriate.  Is knowledge of increased risk for breast and ovarian cancer really the same as increased risk for Alzheimer's disease?

No. Knowledge of a BRCA mutation provides a patient with options for avoiding disease development.  Preventive surgery works for BRCA carriers: it reduces risk of disease development and improves a woman's chances of living a long and healthy life.  And even if patients choose surveillance for breast cancer, research shows that the disease is likely to be caught early and be curable.  Breast MRI is so effective at detecting early breast tumors that Dr. Andrew D. Seidman, MD, member of the American Society of Clinical Oncology Cancer Communications committee said:

"The favorable overall survival in all high-risk groups reported suggests that careful MRI screening is not only superior to mammography alone, but may be an attractive alternative to risk-reducing prophylactic mastectomy for some women."

On the other hand, options for preventing Alzheimer's if a patient knows he is at high risk are limited.  The National Institute on Aging is blunt in its assessment of Alzheimer's treatment and prevention: "No treatment has been proven to stop [Alzheimer's disease]."  Current recommendations for preventing Alzheimer's include:

• Avoiding smoking
• Eating a balanced diet rich in vegetables, fruits and lean protein, particularly protein sources containing omega-3 fatty acids
• Being physically and socially active
• Taking care of your mental health

Although considerable resources are being poured into Alzheimer's research, there are currently no quantitatively effective prevention strategies, although there are a number of drugs now available that may slow progress of the disease for a period of time.

Another reason that testing for genetic Alzheimer's markers is different than BRCA testing concerns the ability of the test to predict the likelihood of disease development.  A woman who tests positive for a BRCA mutation knows that she is definitely at increased risk for developing both breast and ovarian cancer and she knows that this risk falls within a well-defined if rather broad range (breast cancer risk between 45 percent and 87 percent and ovarian cancer risk between 11 percent and 56 percent) based on a decade and a half of research.

Disease prediction with Alzheimer's genetic markers is unclear as was discussed in Genetic Markers for Alzheimer's Diseases: Are They Ready for Prime Time?:

"Although the findings in this [new study in the journal Neurology] are of considerable interest, their application to everyday clinical practice is limited. For individuals seeking genetic information about Alzheimer disease, the predictive value is unclear, unless the individual is from a family carrying one of the rare autodominant APP or presenilin mutations. 

For example, for many years, we have known that information about APOE genotype is neither necessary nor sufficient to predict a diagnosis of Alzheimer disease. Some people with the APOE4 mutation, which has been associated with an increased risk for disease, will never get the disease in their lifetime, and many without the APOE4 mutation will get the disease. That is why experts have been reluctant to recommend these types of "risk" tests as individual predictive tools -- there is concern that some people would be falsely alarmed by their test results while others would be falsely reassured. (It is interesting to note, however, that systematic studies of people who choose to obtain their APOE genetic results do not seem to show any obvious negative psychological consequences from these results."

As the burgeoning field of personalized medicine advances both experts and the public will continue to look to the hereditary breast and ovarian cancer community as trailblazers in this brave new world.  History will record that this community rose to the challenge presented by this new knowledge to improve their lives and limit the impact of two deadly diseases on this and future generations.


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Recovery Journal: Six months later

This week marks six months since I had surgery to remove my ovaries and uterus plunging me into surgical menopause. I have had a number of requests for additional details of my recovery and menopause issues so I decided it is time for an update.  Last August I posted three "recovery journal" blogs about the surgery and its initial aftermath.  They can be found here: Part I, Part II, Part III. By a month after surgery I was feeling pretty normal, back into my exercise routine and preparing for the Kickin' Cancer 5k Run, which took place six weeks after my surgery.

A few days before the run I made my post-op trip to see my surgeon and fully expected to be given the all clear to resume normal sexual activity.  But alas, twas not to be.  I had developed a granuloma at the top of the vaginal cuff that needed additional time to heal.  My doctor swabbed it with a medicine that he said would speed healing and told me to return to see my gynecologist in another four weeks.  In the meantime, no sex.  In light of the fact that many women return to sexual activity four to six weeks after surgery, I was surprised by the news that I would be out of commission for 10 weeks.  But once I checked with a few other friends I learned that 8 to 12 weeks is not uncommon.

At 10 weeks I returned to see my gynecologist, who had assisted with the surgery, and was told that the granuloma was still not fully healed but should be sufficiently healed to resume sexual activity.  He also swabbed it with medicine and sent me on my way.  Because my husband would be appalled if the details of our bedroom activities were posted on the Web I am afraid I will have to leave out the graphic stuff.  Suffice it to say that all was not smooth sailing and I found myself back in my doctor's office two weeks later because intercourse was painful and resulted in increasing amounts of blood each time.  The granuloma had not healed and the scab that had formed had rubbed off resulting in pain and bleeding.  This time my doctor swabbed two different medications on it but because the wound was raw,  this was painful.  We waited a week and tried again: less blood but still painful.  A few weeks later I was back in my doctor's office looking for solutions.

The last time I saw my gynecologist every three to four weeks I was pregnant and the visits were fun, an opportunity to hear the baby's heart beat and measure how much I had grown.  Now, I was unhappy and looking for solutions to a complication I had never heard of until it happened to me. I told one friend that if I had known this was going to happen to me I would have hung on to my ovaries for a few more years. At my December visit my doctor's face mirrored my disappointment when he walked through the door.

"Still?" he said.

"Yes."

The granuloma, however, was almost fully healed and no longer likely to be the sole source of my problems, although he did paint it with the medication again just for good measure.  Then we talked about what happens to vaginal tissues without enough estrogen: lack of lubrication, lack of elasticity, and thin tissues that can tear easily and bleed.  We talked about the pros and cons of various lubricants (yes I had a variety on hand and yes, we had been using them liberally) then we turned to the issue of estrogen.  I am using an estradiol patch at a moderate level, which we could increase, or we could try targeted estrogen in the vagina, which would not raise my circulating estrogen levels but should dramatically improve the vaginal tissues.  My other menopause are under control; no massive hot flashes although I don't sleep as well and I often wake up hot, not melting just warm enough to be uncomfortable and awake.  We opted for the last solution and I left with a package of Vagifem tables to use twice a week.

The good news is that with the dawning of 2011, things seem to be steadily improving; not great, not what they were before surgery, but good and improving.  Many women I know have said that it takes a period of adjustment to "a new normal" and that was certainly the case after my mastectomies.  Somewhere between six months and a year after surgery my sex life was as good as before the surgery. Different, but equally good.  I expect the same thing will happen with this surgery; sometime over the next few months I will become totally comfortable with the "new normal."

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World Cancer Day

Today is World Cancer Day.  Already this week I have received more than a dozen chain emails memorializing World Cancer Day and urging me to forward the burning candle to everyone I know to honor those affected by the disease.

I have also been urged to update my Facebook status by Stand Up 2 Cancer.

But what is going to make a difference this year and in the future is not email messages or Facebook status updates.  It is action.  Action on a grand scale.  So this year I urge you to become involved.  Become an advocate, make your voice heard by those who make decisions about research and healthcare dollars. Read yesterday's post and tell someone in power that we need more options for metastatic cancer, not fewer.  Donate to an organization that supports patients or supports research and education.

Cancer is becoming a global epidemic.  One of every two men and one of every three women will be diagnosed with cancer at some point in their lifetime.  If cancer has not touched you, it has touched the life of someone you know.

If you need more reasons please read Susan G. Komen for the Cure founder Ambassador Nancy Brinker's excellent blog Cancer Control Can't Wait:

"World Cancer Day will, we hope, set the stage for more meaningful work on cancer control on a global scale.  As Goodwill Ambassador for Cancer Control for the World Health Organization, and as a breast cancer survivor and 30-year advocate to end breast cancer, I know too well the pain and devastation of this disease.  I’ve seen it in my own family, in my sister who died of breast cancer 30 years ago.  And I’ve seen it all too painfully in the faces of members of our global family — women dying in undeveloped countries of cancers that might have been easily treated in the West.
Cancer is the leading cause of death around the world, killing more people every year than AIDS, malaria and tuberculosis combined.  The World Health Organization estimates that, without appropriate intervention, 84 million people will die from cancer between 2005 and 2015. While the emotional impact of losing a loved one to cancer is immeasurable, the economic impact of premature death caused by cancer is measurable, and it is devastating.  A recent study found that 25 nations are losing more than 2 percent of their GDP to deaths and disability caused by cancer. These figures are only for the deaths that can be attributed directly to cancer.  Many deaths each year go unreported, because many countries lack cancer registries." READ MORE