What
Are BRCA Mutations?
Breast cancer is topic of wide discussion and an area that is widely studied. Support groups are easy to come by, there are hundreds of forums where breast cancer survivors talk about and even document with pictures, their experiences with breast cancer, and because of the knowledge out there most people are sympathetic toward women who have had or will have to have a mastectomy or a double mastectomy. People are perfectly aware and agree that a breast or breasts, when it comes down to it, are not worth a human life. That said the opposite is often untrue for those diagnosed with BRCA gene mutations.
BRCA1 and BRCA2 genetic mutations are hereditary and can be passed down on both the mother and father's sides. These genetic mutations make the likelihood of getting cancer at a very young age a near inevitability. It can cause many different kinds of cancer in both men and women. In women, however, it typically causes breast and ovarian cancers.
BRCA1 and BRCA2 gene mutations are so rare that they are almost unheard of. So when a woman is diagnosed with BRCA2 genetic mutation, for example, and told that while she doesn’t have cancer yet a viable option to keep her safe and alive are preventative measures including a double mastectomy, ovarian removal, etc., it can be very terrifying, not only for the carrier, but also for others in their lives. Many people simply do not understand why someone would choose to have a double mastectomy when they do not even have cancer. They wonder why a woman would go to such extreme measure when they might not ever get cancer, and they wonder why, especially when it involves the removal of what is considered to be one of the greatest symbols of femininity, a woman would consider preventative surgeries.
Those diagnosed with these genetic mutations often face harsh ridicule and judgment and don’t receive the support they should because, simply, not enough is known about the BRCA1 and BRCA2 gene mutations.
In April of 2012, a dear friend of mine, Lily Webb, a single, working mother of a four-year-old daughter, Lois, was diagnosed with BRCA2 gene mutation only six months after two of her cousins were diagnosed with the same gene mutation. Both of her cousins had breast cancer and were being treated at the Huntsman Cancer Institute, and the two of them were diagnosed simultaneously.
“They found each other in the hall one day and were talking,” Lily explained how the mutation was found in her cousins and thereby the rest of her family. “That’s when the doctors discovered they were cousins. They,” the doctors, “told them immediately how strange it was that they both had cancer. Wheels were set into motion, my family was flown in from all over the world and the testing for BRCA2 began.”
In her family, approximately 40 of her cousins have been tested for the BRCA2 gene mutation, and 30 have come back positive. The Webb family has lost two aunts and their grandmother to the BRCA2 gene mutation. However, when these family members died no one knew that there was a genetic mutation causing devastatingly high risk levels of cancer, or that that very same gene mutation had been passed down to other members in the Webb family.
“We grew up knowing that we would die of cancer,” Lily said. “It was an inevitability that we had all come to terms with.”
As soon as Lily was tested positive for the mutation she immediately began preparing for the next step and I tagged along with a camera to help her document every moment of her process. This experience allowed me a very intimate knowledge of the BRCA2 gene mutation and what goes on behind the scenes of the decision making process.
Lily started researching everything she could about the gene and what she would need to do to prevent cancer from ever forming in her body. In the end she decided on a double mastectomy, and ovary and uterus removal. From her research and talking to doctors and others who had been through similar situations, she discovered that the only way she would be able to effectively stop cancer from happening would be by removing the areas in her body where cancer would most likely occur.
It was not until her first doctor appointment with her oncologist that she started to become aware of just how little was actually known about her gene mutation and what kind of problems this could cause.
The Problem Begins
While visiting with her oncologist, who Lily considers to be very knowledgeable about the gene mutations, she was sent down for a mammogram and got into a conversation with another doctor that worried her:
I became […] concerned as I began to describe my family history to him. He knew what BRCA was and asked how many people in my Mom's family had it. When I told him it was from my father's side, he corrected me and stated that it couldn't be because breast cancer could only be passed down from mother to daughter. I corrected him with very little tact, feeling astounded that a physician working in one of the world's foremost cancer institutes, specializing in BREAST IMAGING no less, was so misinformed regarding the mechanism of genetic cancer mutations. I told him that it is an autosomal dominant mutation that can be passed equally from either mother or father. He said he'd had no idea and that maybe he should study up. I was terrified for any woman who he'd treated who may have gotten misinformation or NO information regarding the gene. I intend to inform my oncologist, in a tactful, way, of my concern. (Lily Webb, Friday, May 18, 2012, webbmakingthebreastofit.blogspot.com)
If a doctor at the Huntsman Cancer Institute, or as Lily put it “one of the world’s foremost cancer institutes,” had such little understanding of the BRCA gene mutations, than how are individuals without medical training or expertise supposed to understand why a thirty-year-old woman would choose to take such “extreme” preventative measures.
Naysayers
Lily has amazing family and friends who were by her side every step of the way; still she was not prepared for those of her acquaintance who thought she was making the wrong decision.
“It hurt to hear them. It was already a hard choice, but I assumed it was only hard for me since I was the one who’d be cut up. I expected everyone would respect what I was doing. To be called crazy and radical was hard,” Lily said.
One woman, who we will call Kay for the purposes of this article, said, “You know there are other options, right? You don’t have to do something crazy like chopping your boobs off. I would never let my daughters have that test done. There is no point.”
Lily was surprised by Kay’s comments, because Kay had contracted breast cancer years before and ended up having a double mastectomy. Kay went on to say, “You don’t understand. You’ll never feel like a woman again. You’re cutting off what makes you a woman.”
Kay clearly has strong feelings about this from her personal experience with breast cancer, but is also exhibiting, predictably, an astounding lack of understanding about what the BRCA gene mutations are and why preventative surgeries are not only viable options, but also a highly credible and effective ways of preventing cancer.
Kay was not the only person who showed a misunderstanding of the gene. During Breast Cancer Awareness Month, in 2012 CNN reported on a woman, Allison Gilbert, who was also tested positive for one of the BRCA gene mutations and proceeded forward with her own double mastectomy and hysterectomy, despite the fact that she did not have cancer. A woman named Kim Janes left this comment on Gilbert’s story:
Just saw on her twitter account that it was paid for by insurance. An expensive elective procedure for someone who wasn’t sick and wasn’t even guaranteed to get sick. Wonder how many people who actually needed surgeries to survive were denied coverage this year? (cnn.com/2012/09/28/health/brca-mastectomy)
Not unlike what Lily faced with her own acquaintances, this was just one of many comments on Gilbert’s article from people who did not think that she should have had the procedures, that it would somehow take away her womanhood, or that thought it was unfair for her to do it when she was not even sick.
It is because of a lack of information that these gene mutations and the people who have them end up facing so much derision. History has shown that the less we know about a disease the more likely we are to judge those who have it unfairly. For example, Hepatitis C used to be considered a highly shameful disease and people were often treated very poorly if found to have it because of the implication of how they received it. Nowadays we have learned that there are lots of ways a person could contract Hepatitis C, many of which are unequivocally not the fault of those who have it. This is an extreme example, but it is effective because it shows how far we have come in our knowledge of Hepatitis C, but also how far we still need to go in our understanding of the BRCA gene mutations.
I do not think that any of the people mentioned here, who have said negative things about Lily’s decision to have a double mastectomy and hysterectomy, meant any harm. Their reactions come from their own personal experiences and knowledge. Unfortunately, because the BRCA gene mutations are so uncommon, and unheard of, these people equate the BRCA gene mutations to what they do know, i.e. breast cancer, colon cancer, plastic surgery, etc. The problem with this is that while these relations do give some understanding, the BRCA gene mutations are not cancer, they just cause cancer.
BRCA Gene Mutations Explained One Misunderstanding at a Time
When asked what she thought would help people accept her decision Lily said, “An understanding of what a mastectomy really is. That it’s not a life-ending surgery. And an understanding of how much worse cancer treatment is.”
While it would be impossible to tackle every negative comment made about those who decide to take preventative measures due to BRCA gene mutations in this article, I’ll go over a few in order to show where the misunderstandings are happening and how they can, hopefully, be avoided in the future.
There are several things that should be understood about mastectomies, but I would like to focus primarily on the fear many women have that they will no longer look like women once the surgery is completed.
When Lily had her first of two surgeries I remembered thinking that she did not look much different than a flat chested woman. I am not sure what I was expecting, but looking flat chested was not it. After her second surgery, which she had only two months later, her breasts looked just the same as they had before, only, perhaps, a little perkier. At no time during, or between these surgeries did she ever stop looking like, or more importantly acting like a woman.
There are incredible surgeons out there who know exactly what they are doing. After Lily’s second surgery she called her doctor a “real artist,” and said that she “couldn’t be happier” with her work.
In this day and age there really is no cause for fear that having a mastectomy will take away “what makes you a woman,” as Kay put it.
To further address Kay’s concerns it is important to mention the question she posed to Lily about whether Lily knew that there were other options and whether she realized that she did not need to do something “crazy” like “chopping off her boobs."
I can only assume that Kay’s experience with breast cancer and mastectomies was extremely taxing, physically and emotionally and I feel sorry that this is the case, but the idea that Lily just woke up one day and decided to get a mastectomy without looking at other options is, frankly, ludicrous. Having had a mastectomy herself, I would think that Kay would be aware of this.
I would be hard pressed to believe that when Kay was told that she would need a mastectomy that she did not drill her doctors on other possible options, especially since she is so opposed to mastectomies, and that Kay would not realize that any woman in the same situation, Lily included, would do the same. I watched as Lily made many of her difficult decisions and was there for many of them and I can tell you that not only did she not make a rash decision in this matter, but exhaustively studied and talked to doctors about all her options, including waiting until she got cancer. I can with out a doubt say that in no way was it easy.
Lily’s choice came from thoroughly thought out understandings of what would be involved with a preventative measure mastectomy and what would be involved if she were to wait to contract cancer before having the surgery. Either way a mastectomy would be involved, only by waiting for the cancer she would also be exposing herself to all the side effects of cancer treatments including: loss of hair, nausea, vomiting, loss of appetite, weight gain, mouth sores, weakness, infections, rashes, early menopause which could then lead to loss of bone density potentially causing bones to break, along with many other side effects. Not to mention possible death.
Approximately 211,731 women, a little more than 12 percent of the population, contract breast cancer every year. Of those approximately 40,676 women, a little more than 20 percent, do not survive. These numbers according to the Centers for Disease Control and Prevention. That is a pretty high percentage, or risk to take, if you were in someone like Lily’s shoes.
Let me explain: While Lily did not yet have breast cancer when receiving her mastectomy, her doctors told her that her chances of contracting it were over 90 percent, that is 80 percent higher than the average woman. So basically it was not a matter of if, only of when. After her surgery, her risk of getting cancer was reduced to three percent, that is one fourth the risk of the average public, and she never had to deal with chemotherapy, its side effects, or the 20 percent plus chance of dying anyway. This is not the case for everyone with BRCA gene mutations, but isn’t too far off either, most having an 80 percent chance of being diagnosed with breast cancer, according to BreastCancer.org.
Kim Janes also had a valid concern about insurance money going to someone who was not sick, which was partially addressed above, but I want to further extrapolate on why this is not as black and white as she might think. As addressed above, these women still have a 20 percent, or in Lily’s case, 10 percent or less chance of being completely cancer free, this is true, but mostly, as in Lily’s case, these women feel like ticking time bombs.
For the purposes of my example I want to pretend for a minute that Lily had decided not to go through a preventative double mastectomy and say that she ended up being diagnosed with cancer, as we should all well expect she would have been. Insurance would have had to pay out nearly a million dollars for a mastectomy, cancer treatments and chemotherapy. By taking preventative actions Lily saved the insurance company $900,000 because her surgery was one tenth the cost of what the insurance company would have paid if she had waited to get cancer. By making the decision to get the double mastectomy pre-breast cancer, she left a lot of money around for others who might need it. But I honestly wouldn’t worry too much about insurance companies, the have plenty of money and if they say “no” to someone it is not because Lily had preventative surgery.
And finally, the idea that being tested for a BRCA gene mutation is pointless, as Kay put it, is a saddening thought. Here is an incredible medical discovery that can save hundreds of lives, and it is being talked about as though it were functionless. To this remark Lily had this to say, “I have three reasons for having this surgery; first so that my daughter doesn’t have to grow up without a mother, like some of my cousins had to do because of this gene. Second, I’m doing it for myself and third for my cousins. But first and foremost is Lois. I have a responsibility to her and I need to make sure that I am around to fulfill it.”
In the end educating ourselves about things that we do not understand is and will be the key to resolving these cultural differences. While we may think we know everything, it is important to remember that we really do not know as much as we think we do.
While Lily had tremendous support from her family, despite what many of them thought of her surgeries, many of her family members who thought she was being “radical” ended up changing their tune. She is now considered somewhat of a pioneer for her family, especially for those cousins who have tested positive for BRCA2 gene mutation who have yet to decide what they will do. By educating them on her experience, through a blog and photographs, her family is starting to see her as brave and courageous, rather than extreme. Many of them are even considering having a double mastectomy and hysterectomies as well, all because she took the time to educate herself and others. Her example shows what a little humility and a lot of learning can do.
For
more information you can visit Lily’s Blog: webbmakingthebreastofit.blogspot.com, you can see pictures at ETCPhotos.blogspot.com under the tab marked Lily Webb:
Making The Breast of It, BRCA2, or you can read my news article entitled, Making The Breast of It: BRCA2 Gene Mutation
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