If you don’t already subscribe to Wildfire Magazine, go sign up now!! It’s amazing and you will get content from a wide variety of talented men and women. A version of this post was originally published in 2018 in the Genetics edition of Wildfire.
When I was first diagnosed with breast cancer, my breast surgeon tested for the BRCA1 and BRCA2 genetic mutations only. When that test came back negative for both, I really thought I was in the clear and my breast cancer was just a product of cells going haywire and nothing I could pass on to my two boys, then four (4) and two (2). Wow, was I wrong.
Only a few months later, we found out that despite having clear margins in my surgery and my sentinel nodes testing negative, I had actually been Stage IV since the beginning (a/k/a de novo). With that diagnosis, my medical oncologist decided to test for the whole panel of genetic mutations, more than 40. I wondered briefly why my breast surgeon hadn’t done that but went along. When the results came in, I discovered that I was positive for the ATM mutation. After the inevitable jokes about getting money from the ATM, we settled down to research and share the information with the family.
As my family has gotten tested, we discovered that the ATM mutation came from my mother’s side (she is a breast cancer survivor and was tested over 15 years ago for BRCA only, which was negative). I’m the eldest of six (6) children and I’ve cousins and aunts and uncles—there are a lot of us to test and not everyone is super excited to find out. Understandable.
The ATM mutation is presently linked to a moderate risk of breast cancer (tell that to the crazy cancer cells that decided to mutate and spread everywhere in my body), a low risk of pancreatic cancer (1% more than the general population) and, most recently, a risk for prostate and ovarian cancer, which is still not quantified. There’s actually more prostate cancer than breast cancer on my mom’s side of the family, which is why we weren’t surprised when the new guidelines came out with prostate included in 2018. The other interesting phenomenon is that the cancer appears to be getting more aggressive with each generation.
When I first researched the ATM mutation, I was surprised to discover how little there is available to read. The genetic counselor my husband and I met with verified that it is a relatively newly discovered mutation and there isn’t much available about it yet. My sister’s genetic counselor referred to it as an “up and coming” gene. That language is rather astonishing and we’ve joked about being more trendy than we realized – yes, humor is a good coping mechanism, even a bit of dark humor.
One note about genetic counselors — at last count, amongst the many members of my family scattered about the country, we’ve encountered, as a family, no less than ten (10) genetic counselors. The variety among the advice we’ve all received has been astonishing. There does seem to be some differences based on geography and whether the counselors are in an academic institution; however, it is important to note that this piece of our families’ journey is as much about art as it is about science.
Despite the fact that men can get breast cancer, it is currently believed that if I pass along this mutation to my boys, they won’t have a higher risk of breast cancer; however, they would need to be screened earlier for prostate cancer. I am thankful that the testing for prostate cancer is much more precise than for breast cancer and that treatment is typically very effective. You see, this experience with breast cancer and genetic issues has caused me to be thankful for the oddest things. Yet, there it is. I AM thankful that my children will be better protected than I was.
It is hard to describe my feelings about the possibility of passing along genes to my children that could kill them. My husband and I struggled with infertility and I had to go through a lot of needles and tests and treatments to get pregnant both times. I struggled with maintaining breastfeeding with my eldest while we were getting pregnant with our second son because of all the medication I had to take to get pregnant. Our children were and are wanted and deeply precious to both my husband and I.
Knowing that I may give them something so deeply embedded in their DNA that is akin to a ticking bomb terrifies me. Plus, it is unethical for children to undergo genetic testing for something that is an adult issue. As a parent, I have struggled with this because I want to KNOW if I’ve passed something on to them. I want to be able to tell them that they don’t have to worry if they test negative. I want to be able to remove that worry from my list of things that I stress about daily.
But, we can’t.
Since my children are so young, discussing how I got cancer or why or any of those deeper discussions are simply not appropriate yet. They don’t understand anything beyond basic principles and we are careful how much we share with them. Sadly, with the life expectancy I face, I will probably never be able to have those discussions with them.
The best I can do is to focus on gathering information for them and leave them the information that they need in order to be empowered at the right time. Like the BRCA gene, so much more will be discovered, maybe not within my lifetime, but certainly within theirs. Knowledge truly is power and with screening and early detection, this risk may not end their lives well before a “normal” or “natural” life expectancy as it will mine. If my grandchildren include girls, they may not be so lucky.
I am thankful that I have information that will help me prepare my children and I certainly do not wish that I’d never brought them into the world; however, I regret that I’ve given them something that may cause them pain. As a parent, I desire only love and good things for my boys. I am hopeful that they will use the information I will leave for them wisely.
A quick note for anyone at the beginning of their breast cancer treatment/diagnosis — even if it isn’t offered, ASK for the full panel. You need to know more than just BRCA1 or BRCA2. Get the entire panel done at the beginning. I wish I had.