But I’m ok. I mean, all things considered.
Here’s my story:
My mother is adopted. As a result, we never had a complete picture of our family history from her side. She located and met her birth parents when she was in her twenties, but was not in close or regular contact with them. When she was 46, my mom felt a lump in her breast, which turned out to be breast cancer. I knew breast cancer at that age is kind of young, and her doctors probably asked her about family history while she was being treated, but we didn’t know it, so she had a lumpectomy, and chemo and radiation, and that was that.
So last spring, when my mom received a letter in the mail from her cousin stating that she had tested positive for a mutation of the BRCA2 gene- which causes hereditary cancer, it took me a little by surprise. One- because she had received a letter from someone in her birth family, whom I knew virtually nothing about, two- because said person had a gene mutation that caused hereditary cancer, which meant that we may also have inherited said gene mutation, and three- because up until that point, I was not aware of such a thing as a gene mutation that caused hereditary cancer.
So we’re at my mom’s house for Easter dinner, and she shows me this letter she’s received, from this mysterious side of the family that I
have never met. Which would have been much cooler if it had contained information a little more positive in nature, like- “we’re royalty from Zanzibar and you just inherited an island estate where the sun always shines and the mojitos flow freely from dawn until dusk.” Instead we get the foreboding- “you might want to get this checked out, because you may have inherited cancer from us.”
Crap.
So my mom, my sister and I briefly discussed whether we would
get tested to find out if we had this gene mutation. They both kind of concluded they weren’t really interested in knowing whether they had it or not, and that was pretty much the end of the discussion. The subject was changed and we finished eating our ham and potato salad, and it didn’t come up again.
Only I couldn’t stop thinking about it. Not all the time- a week or three would pass between when it would cross my mind, but eventually my curiosity won out, (because when someone tells me I may have this excessively high risk of
developing a potentially-fatal-but-almost-certainly-rather-gloomy-disease, it piques my curiosity), so I busted out my Google skills and looked around the interwebs for some more information.
A brief synopsis about hereditary cancer and the BRCA genes:
Hereditary cancers occur when a person is born with a change or
mutation in a single copy of a protective gene pair. Because people
with an inherited mutation have only one working copy of a protective
gene, damage to that remaining gene may occur in fewer steps and over a
shorter period of time. This change can increase the risk for certain
cancers in different parts of the body. The medical community uses the
term “genetic susceptibility” to describe the fact that people with an inherited mutation have an increased risk for cancer.
The change does not increase the risk for every type of cancer and
not everyone who is born with a gene change will develop cancer; risks
vary according to the exact mutation that was inherited. Many other
factors affect the risk of cancer in someone born with a gene mutation.
Scientists do not know all the factors that determine whether or not a
person with a gene change will develop cancer over the course of his or
her lifetime.
The term “hereditary cancer syndrome”
describes an inherited gene mutation that increases the chance to
develop one or more types of cancer. For instance, the main hereditary
breast cancer syndromes—caused by mutations in the BRCA1 or BRCA2
genes—are also associated with an increased risk for ovarian cancer.
Everyone in the population has a copy of the BRCA genes, but there have been some mutations identified within these genes that cause hereditary cancer. These mutated BRCA genes (BRCA1 and BRCA2) are associated with an increased risk of both breast and ovarian cancers, as well as an elevated risk of some other cancers. The statistics vary, but lifetime risk for a woman with a BRCA mutation of developing breast cancer is as high as 87%, and her risk of developing ovarian cancer is as high as 42%. (The lifetime risk for the average woman of developing breast cancer is about 12%, and ovarian cancer around 1.5%.)
After seeing the statistics and learning more about just how high my cancer risk may be, I decided I definitely wanted to know whether I carried this gene mutation. I’m sure you can tell where this is headed by now: Fast forward a few doctor appointments, a few referrals, a meeting with the high-risk breast cancer specialist at Allegheny General Hospital, a meeting with a genetic counselor, another meeting to have my blood drawn for the test, and a third meeting to come in for the results.
Now, in general, in life, I tend to err on the side of optimism. It’s a way more fun approach to life. In this instance though, I can’t say I was surprised when they told me I tested positive for the mutation. My mother had already had breast cancer, my sister had recently passed away from leukemia- I mean, something funky had to be at play here, right? (For the record- there hasn’t been any research that links the BRCA
gene to leukemia, but when you hear there is a cancer-causing gene in
your family, and your otherwise healthy sister gets leukemia at age 30,
you can’t help but speculate about some kind of connection there.)
So I listened while they discussed my options for preventing breast cancer:
Option 1- increased surveillance. Breast exams every six months, combined with alternating mammograms and breast mri’s every six months. Hope that if or when I get breast cancer, they catch it early. Discuss treatment options at that point, which may or may not include chemo, radiation, and mastectomies.
Option 2- chemoprevention. Taking drugs that some studies have shown may decrease the risk of developing breast cancer in high-risk women by as much as 50%. Potential side effects include blots clots and uterine cancer.
Option 3- prophylactic mastectomies. Remove my healthy breasts before they develop cancer. Decreases risk by about 95%.
and preventing ovarian cancer:
Option 1- increased surveillance. Pelvic exams, transvaginal ultrasounds, and CA-125 blood tests every six months. Hope that if or when I
get ovarian cancer, they catch it early. Discuss treatment options at
that point, which may or may not include chemo, radiation, and hysterectomy. Be aware that there is currently no reliable test for detecting ovarian
cancer, and as a result most ovarian cancers are caught when they are stage 3
or 4, which contributes to it’s high fatality rate.
Option 2- chemoprevention. Taking drugs that some studies have shown may
decrease the risk of developing ovarian cancer in high risk women by as
much as 30%. Potential side effects include blots clots and breast
cancer.(!)
Option 3- prophylactic oophorectomy. Remove my healthy ovaries before they develop cancer. Decreases risk by about 97%. Side effects are I’m instantly menopausal, and can’t have babies.
Looking at my options, it’s clear the ones that reduce my risk the most are also the most drastic, invasive, and permanent. I would like to say the decision was easy for me. In some ways it was; I have watched too many people I love battle cancer. Some have won their battle, and some have not. It’s excrutiating to sit helplessly by watching someone you love fight for their life. I’ve sat with my mother, and my grandmother, and my sister while they went through chemo; as they lost their hair, and their energy, and their appetite (but never their sense of humor). My grandmother beat her breast cancer for 15 years before it came back in her lungs, and her bones, and despite a courageous effort on her part, this time the cancer won. She died the day before my high school graduation.
My sister battled her leukemia for two years. As a result of her treatments she gained weight, developed diabetes, her bones degenerated, her hips cracked, and she lost the ability to walk. Still, it never crossed her mind to stop fighting, no matter what side effects she had to endure. She simply refused to leave her children without a mother. She made it through their birthdays- her son’s 5th, her daughter’s 8th- which we celebrated at her bedside at the hospital. She died a week later. She was 32.
If there is any chance that I can spare the people that I love from going through that, it seems like that is the pretty clear choice. When presented with the same information and options, I know that other people may choose differently. The thing is, we are all living realities hewn from our past experiences, and any new information we receive is
processed via those filters. If those personal experiences with cancer hadn’t left their indelible imprint on my worldview, maybe my choice would have been different. I can speculate, but I’ll never know for sure, because I can no longer look at cancer and cancer-risk with clinical objectivity. My experiences with cancer have been that it is destructive, disruptive, unfair, inhumane, and devastating. Nothing about it leaves me feeling warm and fuzzy. Cancer isn’t like the tooth fairy, giving you something good in exchange for what it takes. Instead it comes in to your home, kicks your dog, uses your toothbrush to scrub the toilet, hides your remote, and pees in your coffeepot. So when I hear cancer, my gut reaction is to do whatever it takes to avoid it.
Including having a mastectomy.
So I came home from that meeting, and I made an appointment with the breast surgeon to discuss having my breasts removed. And then I made appointments with a few plastic surgeons to discuss my reconstruction options. On Christmas Eve, I got a letter with my surgery date. And then the reality of what I was doing set in.
And I cried. And I grieved. And I wondered if I would ever be the same. I alternated between a zen-like certainty that I was doing the right
thing, to a borderline hysterical fear that by removing my lady parts I would suddenly feel like less of a woman.
That I would wake up in the recovery room this androgynous, gender
ambiguous version of my former self.
And now that I’m on the other side, I can say that it is different. Not asexual, end-of-the-world different, but it’s
definitely an adjustment. One that, I can confidently say now with the benefit of hindsight,
I am happy to trade in exchange for moving on with my life without the
constant threat of breast cancer hanging over my head.
I’m going to spare you all of the details of the surgery. But the past few months have been a litany of appointments, meetings with surgeons, second opinions, bloodwork, ultrasounds, mammograms, mri’s, surgery, weeks of recovery, and multitudes of follow up appointments. I do have to say, that my team of doctors has been especially wonderful throughout this entire process. My mom got tested after I learned my results (which, by that point was just a formality; we knew that since I was positive for a specific mutation that was known to be on her side of the family, that I had to have inherited it from her, thus making her positive for the mutation as well.) As a result, she had her bilateral mastectomies and reconstruction on Friday. Because of some unexpected and rare complications with her blood clotting, her surgery lasted 23 hours. It’s been a terrifying and anxiety-ridden week. Thankfully, she is doing well now and will be coming home from the hospital soon.
The next few months for myself will include a few smaller procedures related to my reconstruction, but thankfully, the worst is behind me.
At least, until I decide what to do about my ovaries. For now, I’ve chosen surveillance. I know in the future I will have them removed, but at 30, I’m just not ready to choose infertility and menopause.
Obviously, this is all extremely personal, and in the beginning I very briefly debated on whether or not to make any of this public. My initial stance was absolutely not; my plan was to remain under the radar during my surgery and recovery, and resume life as normal once I recovered. I chose to have immediate reconstruction, so if you had no idea what had just happened and you walked past me on the street, you would be none the wiser that I had a double mastectomy. And let’s face it, the less that people think about me and my breasts, the better place the world is. (See, you just thought about them, didn’t you? That’s what I’m trying to avoid). I told very, very few of my friends what was going on, and those that I did tell, I asked for their discretion. Not only did they cross their hearts and hope to die they wouldn’t tell a soul (some of them haven’t even told their spouses), they also rallied together to provide 4 weeks(!) of meal deliveries to my house after the surgery. I am continually humbled by the love and support of the people in my life.
What ultimately changed my mind about sharing what’s been going on for the last few months was realizing the lack of awareness about hereditary cancer and the BRCA gene. Before my mother got that letter from her cousin, I didn’t know there was such a thing as hereditary cancer. I was corresponding recently with a woman who had breast cancer first diagnosed in her 40′s, and had a lumpectomy, chemo and radiation, and then a few years later found a new, separate cancer in her other breast. Breast cancer before age 50 and developing a second breast cancer are both suspicious of hereditary cancer, so I asked her about family history. She said her father’s mother had had breast cancer in both breasts, but her doctor’s had dismissed that as not relevant, because they said the mother’s side of the family is what is important in determining breast cancer risk. That is not true! Now, I have no idea if the gene is in her family, but I was extremely alarmed at the misinformation she had received from her doctors. Two seperate cancers and treatments, but no one involved in her treatment had mentioned to her the possibility of a hereditary link. If medical professionals specializing in the cancer field aren’t educating patients about this, how will they know?
So that, ultimately, is what made my decision to come out of the closet, so to speak. I truly hope that my experience can be helpful to someone. Here is where I get educational about hereditary cancer:
(Most of this is taken from the FORCE (Facing Our Risk of Cancer Empowered) website, which is an incredible resource about hereditary breast and ovarian cancer).
Hereditary cancer risk can be passed down from either side of the
family, so when looking at your family medical history, you need to
consider relatives on both your mother’s and your father’s sides of the
family. Most cancer is not due to inherited mutations. About 10-15% of cancers are hereditary, depending on the type of cancer.
Signs of an hereditary breast-ovarian cancer syndrome may include but are not limited to:
- Breast cancer at age 45 or younger
- Breast cancer in both breasts in a woman at any age
- Both breast and ovarian cancer in the same woman
- Two
or more family members with ovarian cancer and/or breast cancer,
especially if the breast cancer was diagnosed at or before age 50
- At least one family member with breast cancer and one with ovarian cancer
- Breast cancer in men
- Ashkenazi Jewish heritage and ovarian cancer at any age or breast cancer before age 60
- A number of relatives on the same side of the family with breast or ovarian cancer and one of these cancers:
- Prostate cancer
- Pancreatic cancer
- Melanoma
If you have any of this in your family, or know someone who may, please forward this blog post along to them.
Now, cancer is a common disease, so most families will have some members who
have had cancer. The cause of most cancer is not known, but we do know
that most cancer is not
due to a single inherited change in a gene.
Cancer that is not due to an obvious inherited pattern is called
“sporadic cancer.” It is believed that most— perhaps 90%—of all cancers
are sporadic. The chance of having a BRCA gene mutation is around 1 in
800. So just because you or someone in your family has had cancer,
doesn’t mean it is hereditary. However, if there have been
a number of cancers within your family, then I would encourage you to
contact a genetic counselor.
Other hereditary mutations have been identified that don’t increase the
risk for breast or ovarian cancers but do increase the risk for other
cancers (colon cancer is one of them). Any family with multiple individuals with the same cancer,
very young onset cancers, or rare cancer types should consult with a
genetics specialist regarding whether the cancer in family might be
hereditary.
If you are in the Pittsburgh area, both Allegheny General Hospital and UPMC have high-risk breast cancer programs with genetic counselors who will help assess your risk. If you don’t live in the Pittsburgh area, you can find a genetic counselor near you via the searchable directory on the National Society of Genetic counselors’ website (To find a genetic counselor who specializes in cancer genetics, choose
“cancer” under the options “Area of Practice/Specialization”).
If you’d like more information:
FORCE
BRCA Umbrella
Be Bring Pink
Young Survival Coalition
Right Action for Women (Christina Applegate Foundation)
In the Family (documentary film)
I’ll be honest- the last few months have not been full of rainbows and puppy dogs for me. Much of this has been hard to come to terms with. Even after I have my ovaries removed, I will have a lifetime of increased surveillance for skin cancer, and pancreatic cancer, and some obscure cancer of the eye. If I have children, I have a 50% chance of passing this gene on to them. All of that being said, and while if given the choice I would never have chosen to have the gene mutation, I am extremely thankful to be able to know that I do have it and be able to make proactive decisions regarding my increased risk. It has truly been a gift to learn about this now, than to have been blind-sided with a cancer diagnosis in the future.
Plus, when I got the pathology back from my breast tissue after the surgery, it was benign (cancer-free). They had expected this- my ultrasound and mammogram and breast mri had all looked clear. But the pathology report did show some changes in the tissue that can indicate ‘precancerous’ changes. So who knows what may have happened in the future? I’m glad that I don’t have to wonder.
In sharing this, here are my hopes: that this helps someone. Maybe it helps explain the
cancer in your family. Maybe, hopefully, it helps prevent you or
someone you love from experiencing that same thing. Maybe you are a
woman reading this who is about to undergo a mastectomy: I can tell you that you can do
this. You will still be beautiful. Your body may look different, but
over time, you will get used to the new normal. Life will go on, and it
will still be full of love and laughter. Your scars will fade, but the
lessons you learn about yourself along the way will remain, and you
will be stronger for it.
Obviously, there is much, much more than can be said about cancer in general, hereditary cancer, and my individual experience with it. As long as this post is (and my goodness, if you’re still with me, I hope you at least stopped for a snack break at some point), this is just a drop in the bucket compared to what could be said. And I don’t think I’ll share much more about it here- this just isn’t the best outlet for it. So while I won’t be mentioning it much, it is certainly still a factor in my life, especially over the next several months. While I will do everything that I can to ensure it doesn’t affect standard operations at the studio, the truth is, it may. I appreciate your patience if that is the case.
Now, all of that being said, I owe you an apology. The past few months have been tumultuous, at best. I am just now beginning to get back to work, albeit on a somewhat modified schedule. The good news is we have a wonderful studio manager that was handling things while I’ve been out. Unfortunately, the way that timing worked out, I wasn’t able to get her fully up to speed before I took time off, so she was kind of thrown into the thick of things and had to fend for herself. So if you have experienced any delays in response times or other glitches in the matrix, I take the blame for that. Also, if you have emailed me directly (rather than the studio ‘info’ email) for anything over, oh, the last few months or so, you may not have received a response. I neglected to forward my emails while I’ve been out, so there is a great, great many that have accumulated in my inbox. This is also my fault for overlooking that handy ‘forward’ feature. I am diligently chipping away at them, but it will take me a while to get caught up. Please accept my sincere apologies in the meantime.
While I’m at it, I’ll also take the blame for global warming, the economy, and that little dent in the passenger door of your car.
In closing, this seems like an appropriate time to share a drawing with you that my niece brought home from school in first grade. Her assignment was drawing things around the house- so some of the other items on the paper that she had to draw were things like bed, table, chair, television. All of which were good, and then we saw this:
