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I was by far the youngest person sitting in the cold and silent waiting room of an imaging center where I was about to undergo my first mammogram at the University of Toronto. 35 years old. I am usually anxious before any medical appointments, but I felt calmer than usual. usual.
I was just taking a precaution as a woman with a high risk family history. Not serious.
The recommended screening guidelines for women with a strong family history of breast cancer (like me) usually include at least an annual mammogram and a medical exam from age 40, as well as a monthly self-exam. Since breast cancer had been diagnosed in my mother and my maternal grandmother at a younger age (both surviving) and because I had dense breast tissue, my doctor added an annual MRI to my test schedule and got me started earlier.
As I doubted, my mammogram was fine. And my medical exam a few months later was also satisfying. Then I had an MRI breast six months later and some areas were illuminated suspiciously.
Thus began the little throbbing feeling in the back of my mind. Every little pinch, pain or dimple sent warning signals to my anxious brain. Cancer, cancer, cancer.
Finally, I had an ultrasound to check what had appeared on the MRI. They found a benign polyp and nothing more. I started to think, "Is all this disturbing, is it really worth it?" All of these tests and then wait for results and feel relieved. Then, there are only a few months left to find out more.
For the rest of my life?
The year after my first series of tests, I weighed heavily the need against constant worry. It is at this time that my gynecologist suggested me to consider genetic tests.
Genetic tests for common cancers
My first introduction to genetic testing took place about 10 years ago, when my mother was tested for BRCA 1 and 2 genetic mutations during her breast cancer treatment. Problems with these 2 genes, in particular, may indicate a higher risk of breast and ovarian cancer. A positive test to detect mutations in one or the other of these genes can cause people to decide to undergo a preventive mastectomy and take their ovaries, such as Angelina Jolie.
It is also important for children to have this information so that they can start testing as early as age 18. Children have a 50% chance of inheriting mutations from their parents.
All these years ago, my mother did not have a positive test, so we breathed a big sigh of relief. Nine years later, my mother does not have cancer, although she continues to take drugs to suppress hormones. She was told that her cancer was presumably estrogenic and caused by hormone replacement drugs which she was after hysterectomy. It seemed like it could be situational, not something in its genes.
But today, scientists have discovered much more information about more gene mutations that can cause cancer. When you choose to do genetic testing, you and your doctor can decide to look for specific genetic abnormalities (as my mother did) or to screen for "common cancers" that look for all the genetic mutations that cause cancer. the most common.
Positive test for PALB2
I was referred to a genetic counselor who discussed with me the family's cancer history and explained my options for testing. If you are thinking of doing a genetic test, I would strongly advise you to meet a qualified genetic counselor, who will answer all your questions and advise you. If new information is discovered on any of your test results, that person may also contact you to provide you with an update, even years later.
I was aware that there were many types of genetic mutations. I asked a lot of questions. Yet by the time I did the tests, I still felt confident of having no mutations. Like all the tests I've done before, I just took a precaution.
Then I tested positive for a PALB2 gene mutation. It is not as well known as BRCA1 and 2, but it is essentially their partner and localization gene that helps them repair broken DNA that inhibits tumor growth. Because I have this mutation, this repair may not occur, causing the growth of tumors. We had not discovered when my mother had been tested.
What it means to me
PALB2 causes an increased risk of breast cancer and a potentially higher risk (not yet studied) of pancreatic cancer and ovarian cancer. Due to my family history of breast cancer and gene mutation, I have a 58% chance of developing breast cancer before age 70. By way of comparison, the general population of women in the United States has a lifetime risk of 12%.
Specifically, my test schedule remains the same (mammography, self-examination, clinical examination, MRI every year). But this paves the way for many other preventative measures, similar to women diagnosed with BRCA1 or 2. This new one made it feel like a time bomb. I felt that I had to make a lot of big decisions in life, NOW.
Considering my options
The first night, my husband and I had the opportunity to sit down and talk about it, we both discussed trying to have another kid. If we could have a child, I would breastfeed and then do a preventive mastectomy. Or we could adopt and not take the risk of flooding my body with hormones during pregnancy.
I could also take medicine to remove hormones or have my ovaries removed. Our daughter could undergo genetic testing at age 18 to be able to start early detection (about 25 years) if she was positive. The more we talked, the more I realized I had a lot to consider and maybe I had to slow down.
I am still in the first months of receiving this news. Right now, I write my possible plans and I think of them. I do some research (but no WebMD rabbit hole is allowed). I grow my long hair and kisses my family more. I appreciate the times when I feel healthy and strong. Then I will meet my doctors. I will discuss with my relatives. Then I will start implementing my plans. One foot in front of the other. Do the next good thing for me.
Why I'm happy to have done genetic tests
At first, my diagnosis of genetic mutation made my future very dark. It was not what I expected, and I was afraid of letting it flood my thoughts. Some days, that's the case. In the end, I am happy to know my risks. This explains the background of my family and gives my mother and myself new reasons to continue to be vigilant about our health. No need to consider skipping breast cancer screening.
I want to be with my family for a long time. I want to see my daughter grow up and be there for her when she has tough questions about the world and herself. And I want to be as healthy as possible for most of my life. That's what I want to focus on right now, continue my testing schedule and continue to live my life, whatever these tests tell me.
Over the next few years, I will have to take some of these big decisions in life. I will eventually take more preventive measures. And thanks to genetic testing, I have more information on the risks to help me.
Should you consider genetic testing?
If you think about genetic testing, you should discuss it with your doctor first. In addition to your family history of cancer or other inherited diseases, you should also consider how you will use this information to make future medical decisions. Finally, you need to think about your readiness for difficult results. Make sure you have family, friends and doctors you trust, who will support you, listen to you and help you.
This may sound dramatic, but I have had moments when I had the impression of taking a look at the story of my death. It's a terrifying and lonely feeling. But the truth is that nothing in life is so certain. It can be tempting to start looking at your life through all the things that could give you cancer – and let's be honest, there are many – but you probably will not really live.
If you choose to do a genetic test as I did and your results are not what you expected, take heart. This is the opportunity for you to take steps to protect your health as best you can. It's a way for you to give your family the knowledge it needs to protect theirs. This can help you focus on what's important. He has for me. In the end, it's not just a diagnosis, it's a gift.
This story originally appeared on Simplemost. Order Simplemost for other tips and ideas to get the most out of life.
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