Updated: Sep 20
I was filled with emotion when asking my three sons to share what they remember when I told them I carried the BRCA genetic mutation and how it affected them...
My oldest son Sam- “I recall a sense of relief on one hand as I finally knew there was some logical explanation as to why the cancer kept coming back, at the same time, the relief quickly turned to fear and uncertainty, mostly surrounding the fact that there was no cure or preventative solution for this issue you and potentially others i cared about faced. This would likely mean more trouble down the road for all of us, issues for you which made me sad, issues for myself which was scary, issues for our family.”
In 2005 after my third diagnosis with breast cancer, I received a pamphlet about genetic testing from the oncologist. I went thru the very thorough process for information, testing and genetic counseling post my diagnosis at the Penn Basser Center where the genetic counselors were all very caring and informative. I learned I carry the BRCA2 genetic mutation. I knew what this diagnosis meant for me, but what about the men in my family?
I know at first thought, most people think and worry about telling their sisters or daughters. However for me, I had to share this with two brothers and my three sons and make sure they understood how this could affect them (and their family) too!
Although BRCA is known as the BReast CAncer gene, this mutation affects so much more!
Everyone has BRCA1 and BRCA2 genes. These genes when working properly help repair damage to the DNA within cells. However, some individuals inherit a mutation in one of their BRCA genes, which increases their risk for certain cancers such as breast (female and male), ovarian, pancreatic and prostate cancers as well as melanoma.
Men can carry BRCA1 or BRCA2 gene mutations and can be at risk for certain cancers. While cancer risks in male BRCA mutation carriers are not as dramatically elevated as those of female BRCA mutation carriers, cancer risk management and early detection are crucial. So it was important for me to share this information with the men in my life for surveillance, prevention and especially early detection. So often cancer is diagnosed when it has further progressed because no one is checking the men as they are not receiving routine mammograms or earlier testing of PSA blood levels, body checks for melanoma, etc.
My oldest son had recently graduated college and my younger two sons were in college (identical twins) when I shared this information with them Of course, like typical young adults, they listened but had many other things on their minds at that time too. Here are some of their thoughts today;
My son Jeremy (identical twin)- “ I was kind of shocked and taken back at first when you had mentioned this to us because it was not something i was expecting to hear. On a large scale it’s not something that i think about on a day to day basis but something that’s always on the back of my mind. I do give myself breast exams in the shower once a month and you raised me with the intention that preventative measures are important. I limit my sugar intake, take my daily multivitamin and vitamin d, make sure that I am eating a diet that is rich in antioxidants and shop for only organic foods whenever possible.”
My son Sean (identical twin) -”I remember thinking that I could have it and that was a little scary knowing what our family has been through. Knowing you (mom) carry this mutation was tough to hear especially since you had already been through so much, it just meant another thing on top of everything else. There weren’t any bad feelings knowing you carry the mutation and could pass it down as you didn’t ask to be a carrier of this, it was something that was out of your control. I just remember thinking though that it really doesn’t change anything, I just have to be careful and take precautions to get tested earlier and do my self checks.”
My son Sam- “Prior to being tested, I was scared and paranoid (every ache or pain going forward I would wonder if it was not something more serious). I accepted there was nothing I could do one way or the other but live life and be prepared to monitor things more closely. After realizing I was not a carrier I felt a sense of relief, both for myself and knowing that I would not pass this on to others but the fear that others I care about, like my brothers may have it persists and of course, you (mom) do, so all worry did not vanish.”
My brother Harvey heard me and all he really took in was the thought of breast cancer and figuring he’s a guy and he has 2 sons, he wasn’t jumping on learning more about it all right away. Unfortunately 1 ½ years later, Harvey was diagnosed with breast cancer, completed a mastectomy of the breast along with chemotherapy and because his diagnosis was hormone positive he also has been on Tamoxifen. Because of my previous diagnosis with breast cancer and knowing I carried the mutation he reacted much faster than most men with his symptoms! Then a year later, he was also diagnosed with prostate cancer. Only because he knew he carried the same BRCA2 mutation at this point was he more assertive about having a biopsy completed and so the cancer was diagnosed earlier. Having this knowledge, saved his life for earlier diagnosis and treatments!
A recent study in JAMA Oncology reveals women take the test to see if they have a BRCA gene nearly three times more than men. It’s important for women and doctors to discuss with men their hereditary cancer risks too. The BRCA gene mutation can be passed down from a father to son or daughter just like it can from a mother to son or daughter.
Thankfully my oldest son does not carry the gene mutation however my identical twin sons will test together soon as they approach 34 and are each starting their own family. Because they are identical, if one is a carrier, they both are, so it was agreed they would do this together at Penn Medicine Basser Center to make sure they each receive the proper genetic counselor guidance instead of hearing it from one another. The anguish knowing that any child (daughter or son) may have received the mutation from a parent (mother or father) carries a great burden! Living each day with scanxiety, testing, hope and prayers knowing our risks are greater of diagnosis or a recurrence makes for its own mental and physical stress and challenges. No different than my mom knowing this was passed down to all three of her children. "I didn't know why so many people in my family were diagnosed or dying of cancer. It's sad but I'm proud of the work my children are doing to help educate others now and hopefully that will save lives." There was nothing that could have been done, no one even knew this mutation existed until it was gratefully discovered by Dr. Mary-Claire King, a geneticist in 1990 and Annie Parker, the first woman in Canada to be diagnosed with the BRCA1 gene mutation. Their story along with many others are shared in a full length documentary that my brother and I are proud to be a part of called Pink and Blue:Colors of Hereditary Cancer which helps other families to understand more about the genetic mutation and its affects.
Not everyone who carries the mutation will be diagnosed with cancer, it just means you have a higher risk. Being educated about it, sharing your knowledge and early detection may help save lives! For more detailed information about BRCA, how it may affect men too, or finding a genetic counselor or support, please visit HIS Breast Cancer Awareness.
I’m so very proud of all my sons for learning and taking the necessary actions but most of all for all the support and love they have provided me over my recurring cancer and genetic diagnosis. They are my light and my strength.
I can only hope we all will live a long healthy life, just like my mom who is also a breast cancer and BRCA survivor at 93 years of age.
Modeh Ani- I am thankful