What led you to doing the testing?
"My mother had two separate instances of breast cancer, first on the right at age 58, and later at age 62 on the left. Her mother had DCIS in her early 70's, and my grandmother's mother died of breast cancer (and possibly ovarian cancer too) in her 50's. Both my mother and grandmother had hysterectomies with removal of the ovaries, so we don't know if they'd have gotten ovarian cancer or not. After my mother's second breast cancer diagnosis, her oncologist suggested I test for the BRCA gene. But that was prior to the changes to health insurance, so I didn't. After that improved, and I had my son in 2011, we decided it would be good to know if this mutation was in our bloodline. My mother's second cousin had tested positive for a particular BRCA2 mutation and so my mother's insurance paid for her to test. We decided she would test first. If it came out negative, I would be clear. But it came out positive. So now I had a 50/50 chance of having the same mutation. I suspected I did."
What were your results, and what choices have you made based on the findings?
"I met with a genetic counselor before I took the test to discuss important things like: what would I do with this information? Did I understand how knowing I was positive could make me anxious with all the annual testing that might follow? Did I want to take pro-active steps like surgery? Would I be happier with just surveillance? Would this change my child-bearing plans with my husband? How would he feel about knowing the results or not taking the test? I personally believe this is a really important and crucial pre-step to testing. Some people will take a test with their OBGYN or doctor and not meet with a genetic counselor first. What will you do with this information if it's not good news? Seek guidance with a counselor in tandem with the testing. If it's a negative test result, great! But if the news isn't so good, you want to know what to do next.
"For me, I wanted to know so I could be proactive and take as much control of the situation as possible. I discussed testing with my husband first. He agreed. I tested BRCA2 positive in August 2011. We had one son prior to testing, and hope he did not get the mutation. My husband and I had decided one child was enough for us before I took the test for a number of reasons, but when it came out positive that sealed the deal! We're happily 'one and done' with a wonderful child.
"I chose to do surveillance of the breasts with annual MRIs and mammograms from 2011-2015 while I was age 35-39. Those 4 years were tense at times; I had a couple results that were suspicious and the core needle biopsy wasn't fun. I had the preventive bilateral mastectomy at age 39 (which is late) once I knew that was what I wanted and my son was old enough that he didn't need me to pick him up or carry him for a 4-week period while I healed. Thankfully no cancer in the pathology report.
"I have chosen to do surveillance of the ovaries for now, too, from age 35 until who knows when. My oncologist would prefer I do that now, and not later so it's not too late. I'm thinking maybe when I'm 41 in 2017. For now, I have transvaginal ultrasounds and CA125 blood tests twice a year.
"I also have annual skin exams for melanoma since I had a pre-melonoma in 2011 during my pregnancy. And I have colonoscopies when scheduled by my GI because of a large precancerous polyp in 2013. I was clear in 2014, so now am on the every 3 years schedule. Being BRCA positive is not just about breasts and ovaries. Mostly. But not completely."
Was payment an issue?
"My health insurance paid 100% for the BRCA2 test because my mother had tested BRCA2+ Deleterious Mutation.
"My health insurance covered the mammograms, MRIs, CA125 blood tests, and ultrasounds. I pay co-pays for office visit rates when I have these. The core needle biopsy was not a surgery but cost me $150 out of pocket for 'out-patient surgery.' I paid the hospital co-pay for my preventive bilateral mastectomy surgery, anesthesia, and pathology. (Tip: DO ASK if the anesthesiologist is covered by your health insurance! Just because they work at the hospital they might bill differently.)
"The most expensive thing during the process to date, which was not covered by insurance, was my 1-hour consult with a plastic surgeon to discuss my reconstruction options = $399."
How have you discussed these decisions with your family?
"Yes. I discussed every decision with my husband first, sought counsel from my mother, and moral support from my brothers.
"When my son is an adult (maybe at 21 or 25, depending on if he's settling down early or not) we can discuss the issue and it will be his decision to test or not for himself. I have two older brothers with 9 children between them. Neither of them has tested yet, but I ask them to treat their bodies as though they might be BRCA2 positive until they prove otherwise, and to not ignore any symptoms for cancers of the breast, colon, skin, or prostate. They say they may chose to test when their eldest daughters are old enough to hear the news, but that decision is personal, and choosing when or if to test is theirs alone. My oldest neices and nephews know that I am BRCA2 positive and that their grandmother is, too. My 4-year-old son knows I had my preventive bilateral mastectomy surgery, but doesn't know why specifically, just 'to make mommy healthier.'
"My mother's sisters and first cousins tested and they are all negative fortunately. So the mutation runs directly down my maternal blood-line from my great-grandmother, and runs directly down my great-grandmother's sister's bloodline to our distant cousins."
What suggestions would you have for others?
"A couple of things to know before you test that I wish someone had told me:
- "Obtain LIFE INSURANCE before you test. Your health insurance cannot be denied because of your diagnosis. However, your life insurance rate could be higher because of it, so obtain that before you test.
- "Get counseling from a genetic counselor before you test, and after you test, if you test positive. They can help with information, making choices, how to discuss with family, etc.
- "If you haven't checked it out, 'breast reconstruction' and 'breast augmentation' are not the same thing. They are different surgeries - apples and oranges - with different end results both in outcome, possible complications, and breast sensitivity. Know what you are getting into. When I tested in 2011, I thought I might later chose to have the preventative bilateral mastectomy and get a 'brand new set of breasts,' but after looking into the matter, I realized I had been naive about what to expect in that regard! My oncologist wanted me to pursue the preventative bilateral mastectomy right away, but was patient with me as I held off and tested with annual MRIs and 3D mammograms while I researched my options and while I actually became 'comfortable' with the choice. After reviewing all the choices and meeting with surgeons for consultations, I actually opted not to reconstruct at all, and had a preventative bilateral mastectomy without reconstruction in July 2015. I have not regretted the decision to have the preventative bilateral mastectomy. Five months later, I am also still glad I opted for no reconstruction. I feel healthy and well-healed. I am also much less anxious since I no longer have to have annual testing of the breasts and I know I have reduced my chances of getting breast cancer as much as I possibly could. That's empowering!
- "Definitely research ALL your options for breast surgery and for oophorectomy/hysterectomy. If you test for a gene mutation before you're diagnosed with a cancer, the silver lining is that you are fortunate to have a bit more time to research and to make your decisions and you have all the choices open to you. If you have cancer, your decisions will likely be made for you. Cosmetic outcomes for surgery and reconstruction (if you chose to) are better if done proactively, instead of after diagnosis.
- "A positive test result is by no means a death sentence. It allows you to know you need to take certain actions to take good care of yourself! My grandmother had a healthy long life into her late 80's and died of something unrelated to cancer. My mother is healthy and well into her 70's. I plan to live a long, healthy life too!
- "'Live life relentlessly.' Great advice from the operating room nurse who cared for me post-op ;-)"
"I'm 39, wife to my wonderful and supportive husband of 7 years, mother to my 4-year old son, and a working mom, who likes to garden in the summer and read through home decorating magazines."
-- jkbrca2, tested positive for BRCA2 genetic mutation