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I was in the midst of the first days of my life when I was about to have my first mammogram at age 35. I'm usually anxious before any usual.
I was just taking care of a woman with a high-risk family history. No big deal.
Recommended screening guidelines for women with breast cancer (like me) usually includes at least a yearly mammogram and doctor exam starting at age 40, as well as a monthly self-exam. Because both my mother and grandmother have been diagnosed with breast cancer and have had breast cancer, my doctor added a yearly.
As I suspected, my mammogram was fine. And my doctor's exam was just a few months later. Then I had a breast MRI six months later, and some areas read up suspiciously.
Thus, began the nagging feeling in the back of my mind. Every little twinge, soreness or dimple feels warning signals to my anxious brain. Cancer, cancer, cancer.
Finally, I had an ultrasound to check out what had been done up on the MRI. They found a benign polyp and nothing more. I started to think, "Is it all about worrying really worth it?" Then knowing more testing is only a few months ahead.
For the rest of my life?
In the year after my first round of testing, I was heavily weighing the need against the constant worry. This was when my gynecologist suggested I consider genetic testing.
Genetic Testing for Common Cancers
My first introduction to genetic testing was about 10 years ago when my mom was tested for BRCA 1 and 2 genetic mutations during her breast cancer treatment. With these 2 genes, in particular, can indicate a higher risk for breast and ovarian cancer. Positive testing for mutations in one or both of these genes can lead to preventative mastectomy and removal of their ovaries, most famously, like Angelina Jolie.
It's also important for children to have this information they can consider when they're 18 or older. Kids have a 50 percent chance of inheriting mutations from their parents.
All my years ago my mom did not test positive so we breathed a big sigh of relief. Nine years on, my mom is cancer-free, still still on hormone-suppressing drugs. She was told her cancer was likely estrogenic and caused by the hormone replacement drugs she was on after her hysterectomy. It seemed like it could be situational, not something in her genes.
But today, scientists have discovered more about gene mutations that can cause cancer. When you do this, you do not need to be diagnosed with a particular type of cancer, or you have a common cancer screening that looks for the most common cancer-causing gene mutations.
Testing Positive For PALB2
I was referred to a genetic counselor who spoke with my family cancer history and explained my options for testing. If you're considering genetic testing I would definitely recommend meeting a person with a trained genetic counselor who can answer all of your questions. If there is more information about this one of your test results, this person can also contact you with an update, even years down the road.
I was aware that there were many types of genetic mutations. I asked a lot of questions. Yet, at the time I did the testing, I still felt confident I had no mutations. Like all the testing I did it before, I was just taking a precaution.
Then, I tested positive for a PALB2 gene mutation. It is not a matter for BRCA1 and 2, but it is their partner and localizer that helps them repair the broken DNA that inhibits tumor growth. Because I have this mutation, which can not happen, causing tumors to grow. It had not been discovered when my mom was tested.
What This Means for Me
PALB2 causes an increased risk of breast cancer and a possible higher risk of pancreatic cancer and ovarian cancer. Because of my family history of breast cancer with the mutation gene, I have a 58 percent chance of developing breast cancer by age 70. For comparison, the general population of women in the United States has a lifetime risk of 12 percent.
Practically speaking, this keeps my schedule exactly the same (mammogram, self-exams, clinical exam, MRI every year). But it does open up a lot of considerations of other preventive measures, similar to women with a BRCA1 or 2 diagnoses. This news made me feel like a ticking time bomb. I felt like I had to make lots of big life decisions, RIGHT NOW.
Considering My Options
The first night my husband and I had a chance to sit and talk about it. If we were able to have a child, I would have breastfeed and then have a preventative mastectomy. Or we could adopt the risk of flooding my body with hormones during pregnancy.
I could also go on hormone-suppressing drugs or have my ovaries removed. Our daughter could have been tested at age 18 so she could start early screening (around age 25) if she tested positive. The more we talked, the more I realized I had a lot to consider, and I needed to slow down.
I'm still in the first few months of receiving this news. Right now, I write down my possible plans and I think about them. I do a little research (but no WebMD rabbit holes allowed). I'm growing my hair long and kissing my family more. I'm appreciating the moments I feel healthy and strong. Next, I'll meet with my doctors. I will discuss with my loved ones. Then I'll start putting my plans into action. One foot in front of the other. Doing the next right thing, for me.
Why I'm Glad I Did Genetic Testing
At first, my gene mutation diagnosis made my future feel very dark. It was not what I expected, and I was worried about letting it take over my thoughts. Some days it does. Ultimately though, I'm glad I know my risk. It explains my family history and continues to be more vigilant about our health. No more considering skipping any breast cancer screenings.
I want to be with my family for a long time. I want to see my daughter and have a lot of questions about the world and herself. And I want to be healthy as I can for as much of my life as possible. That's what I'm choosing to focus on right now, continuing my testing and getting along with living my life, whatever tests may tell me.
In the next few years, I would like to make some of those big life decisions. I will probably take more preventive measures. And thanks to genetic testing I have more information about my risk to help me.
Should You Consider Genetic Testing?
If you're thinking about genetic testing, you should definitely discuss it with your doctor first. On the other hand, you should also consider how to make future medical decisions. Finally, you have to think about how to prepare yourself for receiving tough results. Make sure you have family, friends, and doctors you trust, who will you support, listen and help you.
It may sound dramatic, but I had moments when I felt like I was going to be a sneak peek at the story of how I was going to die. That's a terrifying, lonely feeling. But the truth is, nothing in life is that certain. It is possible that you can be sure that you are going to have a good time.
If you choose to do genetic testing as I did, and your results are not what you hoped for, take heart. This is an opportunity for you to take steps to protect your health. It's a way for you to give your family the knowledge they need to protect theirs. It can help focus you on what's important. It has for me. In the end, it's not a diagnosis, it's a gift.
This story originally appeared on Simplemost. Checkout Simplemost for other great tips and ideas to make the most out of life.
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