I am sitting in my office. My medical assistant just handed me an important test result. I opened the envelope, looked at the report and swore. My BRCA test results read “Positive for a Deleterious Mutation.” I had been dreading this result for 2 weeks. I had been expecting this result for years.
A part of me was immediately abusing statistics to calculate the likelihood that I was already dead, no, already terminally affected by BRCA cancer. The formula is: Chance of occult breast cancer x likely stage x likely mortality + likelihood of ovarian cancer found on preventative oophorectomy x mortality of stage zero OVCA.
That is not a good formula. Not statistically or scientifically valid, but it summed up my mental state on 2/28/2007. My cancer worries had evolved over the years from my childhood ‘Ziggy’ sense that all bad things would happen to me – when bad things meant camping vacation rained out again. To my 20s, when breast cancer on both sides of my family meant that I was destined to get it. To 2 weeks before when I read on Dad’s positive test result that there is a 40% chance of ovarian cancer, if I have the gene. To ‘Holy Shit, I have the mutation.’
Despite 2 weeks of intense research, and preparation, I was blown away by the news. As a Physiatrist, Physical Medicine and Rehabilitation Physician, I tend to always see the worse case scenarios for any illness. I see the woman with septic shock after delivery, who lost an arm and a leg. I see the person whose tumor grows in the wrong place and paralyzes them. I see the young patient who defies the stats and gets a stroke in their thirties. So, of course, I was well trained to see every possible bad outcome from this new threat to my existence.
My office staff knew the results right away. I must have called my partner and my sisters. I got on line and posted my test results to the FORCE message board, to get support from my new best friends and best resource.
And then I started calling genetic counselors. And got a breast surgeon appointment and a gyn oncology appointment. I called my gynecologist to start the screening process to make sure I did not already have cancer. I started planning my risk reduction surgeries right away. Being a pessimistic rehab doc, I knew that I would do risk reduction surgeries, to give me the best chance of never getting cancer.
As I researched the implications of my BRCA mutation, I discovered that in addition to increased risk of cancer, the mutations caused cancer at much earlier ages than in the average population. I was starting behind the eight ball, starting my risk reduction strategies 3-7 years later than recommended.
Fast forward eleven years and 9 months later. I am sitting with Pam in the living room at 0600 on the first day of my first NaNoWriMo, sitting and writing my 501st words toward the memoir that I started 10 years ago. This makes me a WriMo rebel, as National Novel Writing Month, is about writing 50K words towards a novel in November. Rebel, I am. I am newly committed to getting this book recorded.
In the time since I opened my positive test results, a lot has happened. I have completed risk reduction surgeries, I have spent 2 years living on the FORCE message boards, processing those moves. I have maintained and then lost a medical practice, and then found a new job and had the hospital close out from under me. I have helped my father cope with a pancreatic cancer diagnosis, found a new job, got married, opened a new rehab unit, put in 3 months from hell, broken in a new work partner, visited Europe, attended the Solheim cup 3 times, hosted my family for vacations in 2 states, and done 2 long distance bicycle rides.
There is also a lot that I have not done. I have not needed a mammogram, an MRI, a trans-vaginal ultrasound. I have not needed a biopsy, or additional surgery, or chemo or radiation. I have never had to alter my schedule for surveillance or a cancer scare. I have never again been so consumed by fears of breast or ovarian cancer, that everything else in my life took a back seat to that self absorbed obsession.
I feel enormously lucky, blessed, and thankful that I am in the situation that I am, to have family history knowledge, and genetic testing results, that allowed me to plan my future, and avoid cancer and live my life. I owe my current situation to so many people who have helped me along the way.
I sit here writing, because I know from personal experience, that it is extremely important to be able to read about the personal stores of women in the same situation. I needed to do extensive research into the risks, the surveillance strategies and results of preventative surgeries. I also desperately needed to hear about the personal stories of other women facing the same risks, worries, and risk reduction surgeries.
I am more motivated now, having returned from the 2018 FORCE conference. I attended with 750 other participants facing hereditary cancer risks. We had the pleasure of listening to Mary Claire King talk about her discovery of the gene in 1994, and to track the progress of her mission to save women’s lives by using genetic testing, and education to allow at high risk women to have preventative surgeries.
I learned about great progress in PARP inhibitor cancer treatment drugs which are effective in slowing BRCA cancers. I saw the need of so many women for the information available, and the need for so much more research to answer questions that many of us have. I am inspired by the work of the FORCE team to continue to educate women, to bring us together and support us in our journeys to minimize the impact of BRCA and other hereditary cancer genes on our lives and our families.
Goals for this memoir: I have several goals. One is to practice writing. A second goal is to record my story, both for the personal catharsis, and to create a family record. I would also like to share my journey with others in various communities that I represent. I am a lesbian, a recovering Catholic, a rehab physician, a flattop, BRCA1 previvor.
My BRCA story is impacted in part by each of those roles. The gene mutation that I carry, BRCA1, is located on chromosome 17.
The scientific community’s knowledge of the implications of BRCA1 and BRCA2 mutations on carriers is evolving. As we identify carriers based on broader screening criteria and sometimes community wide screenings, the picture changes. Initial studies were of families with such strong histories of similar cancers that they stood out as cautionary tales. As we study larger numbers of carriers and their families, other correlations become apparent.
For instance, I did not expect to have to worry about pancreatic cancer in myself, or my family, because that was a cancer that affected BRCA2 carriers. In December of 2014 my father, a BRCA1 carrier was diagnosed with pancreatic caner. Now I read that the incidence of pancreatic cancer BRCA1 carriers maybe slightly less two and a half to 5% in the BRCA1 carriers versus 6 -7% of the BRCA2 carriers. That is significantly higher for BRCA1 carriers than I initially thought based on my 2007 research.
Being a physician, I bring my skills, and biases, to my research, my cancer prevention strategies, and my coping with the diagnosis for myself in my family. I often say that a physiatrist is about as far as you can get from hereditary Cancer Specialist. Based on my specialty, and my clinical roles, I have interacted with BRCA carriers, hereditary cancer patients in several ways.
I used to run a busy outpatient medical management of pain practice. As such was often involved in dealing with patients with cancer pain. This gives me a very skewed perspective, as it meant I was usually dealing with patients with metastatic cancer, which in the breast cancer community is a small proportion. I have also treated breast cancer survivors, people dealing with metastatic breast cancer, and cancer patients on my Inpatient Rehab unit for a variety of reasons. My dealings with breast cancer patients on the rehab unit are generally pleasant. Often it is an entry in the chart listing unilateral or bilateral mastectomy, lumpectomy, history of breast cancer as a part of the non pertinent past medical history. An inactive problem, a very inoffensive line items for a patient admitted to the hospital with a one of a variety of other age-related problems.
I do on occasion, treat a patient who has become severely deconditioned , or physically impaired because of their breast or ovarian cancer related complications. Treating such patients pulls at my survivor guilt. Why did I receive fair notice of my cancer risks, and be able to act before getting cancer while this other patient did not?
I lost a breast cancer patient 2 days after I return from my FORCE conference. With the sad heart, I attended the cancer lectures, knowing that my patient was in the hospital, in pain, and struggling to maintain control, while both of us knowing that she was nearing the end. Thankful that new technology bought her 3 more years, but for a 36 year old that is not nearly enough time.
For me, my diagnosis with a BRCA gene mutation, felt very much like a huge part of my identity for several years. My identity as lesbian, also had an impact upon my decisions about preventative treatment. My partner was always very supportive. She was also focused on me minimizing my cancer risk, and staying around, and available as a part of our relationship.
I came out as a lesbian in the 1980’s, when I was in college. That was a very powerful time for me. It meant that I understood so much more about myself. I had a label and I had a community. And I very much identify as a lesbian woman. As such making decisions about preventative surgeries had an impact. I don’t consider myself a feminine woman, and don’t accentuate my figure, my breasts. Still, I definitely mourned the loss of them, and their impact on my self-image, my relationship, and my presentation to the world.
I have spoken to other lesbians who do not find that their sexual orientation has much of an impact on their BRCA decision making process. that was not the case for me. When opting to go flat, (opting not to get breast reconstruction) I chose an option that is very well represented among cancer survivors, but somewhat less so among previvors. (Women like me who face a higher risk of cancer, but have not had it yet.) Many find the ability to choose breast reconstruction as a positive factor in their decision to undergo risk reduction surgeries.
On the FORCE message boards, the topics sometimes seem heavily focused on discussions about which plastic surgeon to see, which type of reconstruction to have, progress through reconstruction, what to do with the nipples. Because there are so many questions and issues related to reconstruction, those of us who go flat, at times, feel marginalized. Now in the Facebook area we have a closed group “Flat and Fabulous” for ourselves. This group has 6100 members as of April 2019. Together we can discuss clothing issues, others perceptions, and flat and fabulous Friday photos.
Being a previvor sets me apart to some extent from the cancer Community as a whole, but within the BRCA family it is a large sub group. Some of us feel that it is imperative that women have universal genetic cancer screening testing. With the price down to $200-400 at Color Genetics, it becomes cost effective, if correlated with good genetic counseling. The cost will be offset by more appropriate screening schedules for the non-carries, and the decrease in cancer treatment costs as proper screening and use of preventive surgeries should mean fewer cancer cases, and more caught at earlier more manageable stages.
We know that current screening strategies which rely on family history, will never be able to pro-actively identify women with mutations in small families, or in those with few women on the affected side of the family. I am in that category, but am lucky that my cousin started the process of testing for her mother who had breast cancer in her 40s.
Knowledge is power. That knowledge of a BRCA mutation, can lead to risk reduction surgeries, and then be able prevent cancer in the first place. When knowledge of a BRCA mutation leads to more intensive surveillance, that will increase the likelihood of catching an early stage breast cancer and result in a very low mortality with less less invasive, less toxic regimens. There are always, unfortunately stories of patients whose moderate stage breast cancer develops between 6 month screening cycles.
The final reason for writing this book is to compile a list of resources for lesbian previvors and survivors, but also for other members of the lbgtqqi+ community. When I found my BRCA journey, I was reassured in many instances by data on people like me. Members of trans-gender community faces additional challenges, that their gender identity procedures may interfere with surveillance. The hormonal treatments may be relatively contraindicated depending on a trans-gender BRCA carrier’s status regarding history of cancer, or preventative or cancer prevention strategies. Many trans-gender people report concerns about acceptance within the medical community. That can make it even more difficulty to seek good information, or screening. When a person who has taken action toward transitioning reaches out for good information, that person is likely to find out that there is very little if any research to rely on.
Regardless of which of the above categories a BRCA carrier falls into, they will often run across a question, specific to their needs regarding cancer risk or prevention strategies. Often there is little or no research on those topics. Because of our voracious need for information to guide our choices, I participate in two hereditary registries. I am aware of the value of information for the BRCA positive community. Each time, when I finish filling out a survey, I am frustrated because I know that we all have so many more questions than the surveys are even asking.
This blog will be an interim step to publishing this memoir in its entirety. As I find an hour here or there to edit a chapter, I can put it out here, and those interested or in need of the information will be able to find it now, instead of some amorphous time in the future.