As I turn the page on another chapter of this saga called life, I figured I should probably update anyone who might want to know those sorts of things. Since you are here right now reading this, I guess that means YOU do! Thanks for caring (or being nosey). ;)
I may have mentioned a while back that when I was first diagnosed, my oncologist had recommended that I have genetic counselling and testing to see if I carried a defective BRCA1 or BRCA2 gene. Because I was diagnosed at such a young age, they suspected that my cancer may have been "genetic" (or due to a faulty gene). I declined testing because I was not ready to deal with the ramifications of the test results at that time. At that time, I knew that I had multiple surgeries and chemo ahead of me, and I wanted all of those things behind me before I was going to tackle yet another "thing". I was given a huge packet of information to fill out and a number to call to set up an appointment with the genetics people (whenever I was ready).
So a couple of months ago, I decided to fill out the packet and give the genetics people a call. I sent the extensive packet in, and awaited them to call me back. A few phone calls later to try and piece together my warped family history, and then I had an appointment for genetic counselling.
At the appointment they ask more questions about my family history, and medical history. Then they go over this laminated book that tries to break down genetics/chromosomes, etc. for the lay person.
An actual picture from that appointment:
Now, don't get me wrong, I really did want to know the information, but I still didn't know if any of this information had anything to do with me. So, the science lesson was a bit lost on me at the moment. Plus, I think this kind of genetics "counselling" is meant for people who need help in deciding if genetics testing is something they want to do. I already knew I wanted the test, that's why I waited close to 3 years to get it. I did my homework (big shout out to Dr. Google) and was pretty well informed about my decision. Inside I was thinking "Ummm, so when do we do the blood test?...I sure hope my insurance covers this...how long is this going to take?...Let's get this show on the road folks!" After the science lesson from the counselor, a doctor (and medical student) came in to answer any questions I had, make sure I have thought about what the results might mean to me and my family.
Here's a pretty good article about the pros and cons of getting genetic testing for BRCA1 and BRCA2:
Why Would I Get Genetic Testing for Breast Cancer?
Weighing the Pros and Cons of Genetic Testing
By Betsy Lee-Frye
Although the process of genetic testing for cancer starts out with a simple blood draw, the topic of genetic testing is anything but simple.
The test comes with a whole minefield of possible emotional aftershocks, especially for those who receive a positive or ambiguous result. When considering genetic testing, it's important to weigh all the pros and cons with a trusted physician. Most doctors will also recommend that families visit a genetic counselor before seeking the actual testing.
Hereditary breast cancer may be associated with a number of inherited conditions; however, mutations on two genes, called BRCA1 and BRCA2, have been the most studied by researchers in women with breast or ovarian cancer. In the typical situation, genetic testing for breast cancer evaluate mutations in these two genes.
Exactly how common mutations of these genes are in the general population is not known; however, in one study, researchers examined the genetic profile of 1,628 women with breast cancer and 678 women without breast cancer who were between the ages of 35 to 64. They found that 1.4% of African-American women, 2.9% of Caucasian women and 10.2% of Jewish women had a BRCA1 mutation. The same study also found that 1.1% of Jewish women, 2.1% of Caucasian women and 2.6% of African-American women had a BRCA2 gene mutation.
Experts recommend that women consider testing for BRCA1 and BRCA2 mutations if they have a "significant family history" of breast or ovarian cancer. According to the National Cancer Institute, a significant family history is defined either as having "two or more close family members who have had breast and/or ovarian cancer" or as having "breast cancer in . . . family members [that] has been found before the age of 50."valuate mutations in these two genes.
The National Cancer Institute defines "close" as a first-degree relative, such as a parent or sibling, or a second-degree relative, such as a grandparent or aunt. Also, genetic counseling is recommended for any women who is diagnosed with breast cancer before the age of 45.
Anyone considering the tests should talk to a physician or a genetic counselor about the pros and cons. For help in finding such a healthcare professional or for more information about genetic testing, call the National Cancer Institute's Cancer Information line at 1-800-4-CANCER. To learn more about personal breast cancer risk, you may find the National Cancer Institute's breast cancer risk assessment tool useful.
|DNA (B Form)|
Robert Guy, National Cancer Institute
No medical risks are associated with genetic testing for breast and ovarian cancer, but test results can have a great affect on your life.
- Emotional health -- Both positive and negative test results can affect emotional health. Some studies indicate that people who receive a positive result are more likely to feel anxious about cancer. Although no studies have looked at how frequently this occurs, the National Cancer Institute reports that some individuals who have negative results experience survivor's guilt.
- Medical decisions -- A positive or negative test may affect what screenings or preventive steps a woman will choose to take throughout her lifetime. Those with a positive test result can choose from preventive actions that range from surgery to increased surveillance.
- Discrimination -- The Genetic Information Nondiscrimination Act of 2008 protects individuals from discrimination initiated by an employer or health insurance company. But the law does not include protection against discrimination when obtaining life insurance, short-term disability insurance or long-term care insurance. Those who test positive for a BRCA1 or BRCA2 gene mutation may struggle to acquire these types of insurance.
- It's also important for families who are deciding whether to test or not to know that the results do not indicate with any certainty whether an individual will or will not be diagnosed with breast or ovarian cancer. The average American woman has a 12% chance of developing breast cancer in her lifetime. A positive test result means a 14% to 87% risk of developing breast cancer.
- In about 10% of tests, the results are ambiguous. This typically means that the test wasn't able to identify one of the known BRCA1 or BRCA2 mutations that are linked to an increased risk of breast or ovarian cancer, but a genetic variant was discovered. People with an ambiguous test result are encouraged to talk to their physician about how to interpret these results.
Considering the Pros of Testing: Emotional Health
Although some studies link testing to an increase in anxiety, several others have found an association between declining to test and depression. One study found that among people with a significant family history of breast and ovarian cancers, those who declined testing had a significant increase in depressive symptoms 1 month after declining testing (from 26% at the time testing was offered to 47% at 1 month after declining the test). Reported symptoms of depression remained the same among those who opted for testing. According to the National Cancer Institute, it's not uncommon for individuals who choose testing to feel more "in control" of their health. Genetic testing allows individuals to take a proactive approach to their medical care.
Considering the Pros of Testing: Physical Health
Remember, a negative test does not mean that the individual will not be diagnosed with breast cancer, nor does a positive test guarantee an eventual breast cancer diagnosis. But genetic testing can provide individuals the information they need to make important decisions about medical care.
Those with a positive test can opt for any of a variety of prevention options, including:
- Increased surveillance -- The earlier cancer is caught, the more treatable it is. For most women, an annual mammogram starting at age 40 is recommended, as are annual gynecological visits beginning during the teenage years. For those with a BRCA1 or BRCA2 mutation, experts recommend beginning annual mammography at least 10 years prior to the earliest age of diagnosis within the family. Memorial Sloan-Kettering Cancer Center in New York recommends a clinical breast exam every 6 months. Women should consult their physicians about other methods of surveillance, such as MRIs.
- Chemoprevention medications -- As the name suggests, chemoprevention drugs are medications that are designed to lower one's risk of developing cancer. Two of the commonly prescribed chemoprevention medications -- Nolvadex (tamoxifen) and Evista (raloxifene) -- are approved for use among women over 35. It is recommended that these drugs be used for no longer than 5 years. A National Cancer Institute study found that "Tamoxifen reduced the risk of invasive breast cancer by 49% in women at increased risk for developing the disease." But few studies have been conducted to determine how these medications impact those with specific BRCA1 and BRCA2 mutations. Be sure to talk to a physician about possible side effects associated with medications such as tamoxifen and raloxifene. Tamoxifen has been linked to a host of side effects, including nausea, hot flashes and in rare cases, an increased risk of endometrial cancer.
- Prophylactic surgery -- This step involves the removal of tissue that is at risk for cancer before the cancer develops. Those with a BRCA1 or BRCA2 mutation can choose preventive mastectomy, hysterectomy, removal of ovaries and fallopian tubes, or any combination of these procedures. Prophylactic surgery has been shown to reduce the risk of breast and ovarian cancers by 90%.
The results were........................BRCA2 positive. Which means I have a mutation of the BRCA2 gene (exon 10 to be exact!). Look at me beating the odds once again! (I need to start playing the lottery)... Those with a BRCA2 mutation are more likely to develop breast cancer (shocking!!), ovarian cancer, pancreatic cancer, melanoma, and leukemia (prostate cancer as well, but I don't have to worry about that one - phew). I was at work when I found out, and I cried on and off throughout the day. I will be scheduling surgery for a bilateral Salpingo and Oophorectomy - BSO (getting my ovaries and fallopian tubes out) or total hysterectomy (depending on what the doc recommends) ASAP. I am not too worried about the surgery (I have heard it's much easier then the other surgeries I've gone through). Although, I am not happy at having to take more time off of work (they have been so wonderful and accommodating, but after a while I am sure they think "enough already!", 'Cause I'M thinking "ENOUGH ALREADY".
I cried for the unknown future of my two little girls. (There I go crying again...dammit, EVERY. TIME.) Their risk of having this gene is 50%. My worst nightmare is that either one of my kids have to go through any of this crap, especially having seen me go through it. I am not saying anything to them about it at this point in time. There is no sense in them worrying right now, as there is nothing they would be able to do about it anyways. I asked the counselor when they could get tested, and she said not legally until they are 18 years old, but she recommends waiting until at least 22 years old (as the results would most-likely be too difficult/heavy for an 18 year old to have to make those kinds of decisions, maturity-wise). I did tell my older daughter that I was going to have to have another surgery, but just that the "kind of cancer that I had made me more likely to get a different kind of cancer in my ovaries, so I am going to get them out just for protection".
So, next for me is another appointment with the genetics counselor and genetics doctor to talk about what should happen next, then an appointment with the oncology gynecologist to talk about my surgery options, then surgery.
I've got to admit, I'm kind of over it. ALL of it. I am not surprised at the test results, and it makes me feel a little bit better to know a little bit of WHY this happened to me. It was in my genes, I was predisposed to it. I also feel good that I can proactively do something that could possibly prevent (at least) ovarian cancer. But, I kind of feel like this:
I'd like to get back to normal life now. The normal, mundane and boring crap that I probably complained about before all of this - I long for that shit.
But for now, this "40 year-old mutant ninja woman" apparently has some more work to do...