Editor’s note: The following article is a part of the National Society of Genetic Counselors’ patient blog post series. Written by real patients, these stories share a glimpse into the sometimes-complicated world of genetics and the role a genetic counselor can play in helping people navigate their healthcare. If you are an NSGC member and have a patient interested in sharing his or her genetic counseling experience, please email Jennie Szink at firstname.lastname@example.org for more information.
Take matters into your own hands is a phrase we frequently hear in everyday society. Whether it’s health, work, family or an unexpected situation, many people are tested daily to take control of their own lives. Sometimes people may not know where to begin to get help from others. I want to share what my family and I did when finding out about the BRCA1 genetic mutation that impacted our lives so cruelly.
Breast and ovarian cancer is a dark, heavy rain cloud that has hung over my family for generations. On my father’s side of the family, we’ve lost many to cancer, and still have fighters among us. My Aunt Liz, who was diagnosed with breast cancer at 44 in 1998, is currently our only breast cancer survivor. Liz’s daughter, my cousin Jennifer, was diagnosed at 29 and passed away eight years later in 2011. My grandmother was diagnosed with breast cancer at 38. While she survived breast cancer, she unfortunately succumbed to colon cancer and passed away at 79 in 2015. My Aunt Tina was diagnosed with breast cancer at age 37 and passed away two years later in 2007. My Aunt Helen was diagnosed with ovarian cancer at 48 and died two years later in November 2007, five months before her sister Tina.
It’s apparent that our family is different; genetically different.
In 2005, our family sought help of genetic counselors to pinpoint what was causing this disease to strike many family members. We needed help to prove this wasn’t just a random coincidence. Through genetic counselors, we found out about testing for genetic mutations. My Aunt Helen was tested in 2005, my Aunt Liz was tested in February 2006, along with her two daughters, Jennifer and Christina, and my father was tested in June 2006. All tested positive for the same BRCA1 mutation. My Aunt Tina was not tested, but it was assumed with her diagnosis of breast cancer that she carried the mutation as well. Two other aunts elected to get tested; thankfully their results were negative and they have not had any sort of cancer to date.
Having a BRCA1 mutation means having a predisposition to breast and ovarian cancer. It can increase a woman’s risk of breast cancer by up to 87 percent over the course of a lifetime. But it’s not just a woman’s disease. As we learned with my father, men can also test positive for this mutation, and those with the mutation have a higher risk of developing male breast or prostate cancer in their lifetime.
Knowing these statistics helped my family members make preventative decisions about their health. My cousin, Christina, went through preventative surgeries to help lower her chance of developing breast and ovarian cancer. I also kept the statistics in mind when it came time for me to make my own healthcare decision.
With my father being positive for a BRCA1 mutation, I knew I had a 50/50 chance of the mutation being passed to me. At this point, I was only 15 years old and knew something was wrong with our family, but I could not comprehend the severity of the situation. I remember being very proactive in my high school years. I contacted our genetic counselor, Sumedha Ghate, to speak about my options and what this meant for my future. Even though I was not a patient at this time, Sumedha was very open and honest with me about this risk. But I was still too young to have any testing done.
After my cousin passed away in 2011, and I was 20, I called Sumedha again. I let her know about Jennifer’s passing and that as I got older, I was more concerned. She advised me to wait until I finished college, as the results of a positive test would be a lot to handle at that time in my life.
As I grew older, the question of when to be tested was always in the back of my mind. In 2014, I made another phone call to Sumedha. I was 23 and was anxious about getting tested. We discussed my options and I decided to wait until I was more established in life. We talked about life changes coming up – such as finding a fulltime job, deciding where to live – and that genetic testing could add unnecessary stress.
Finally, two months after my grandmother’s passing in September 2015, I called Sumedha and let her know I was ready to be tested. I was nervous, as anyone would be, but I knew knowledge was power. This was the right decision for me. We scheduled the appointment. Sumedha was extremely helpful and knowledgeable throughout the process. She knew my family history down to a "T." We chatted for about an hour and then she took a simple blood draw that would let me know if I carried the mutation. She said it would take a few weeks to get the results back. Those were the longest two and a half weeks of my life.
On Oct. 13, I received a life-changing phone call from Sumedha. I was positive for the BRCA1 mutation. My eyes immediately teared up and I began sobbing over the phone, despite my best attempts at holding it together. Sumedha told me it was okay to feel the way I did for a while; that it was okay to take my time in accepting the results. After talking with her for 15 minutes, we hung up and it was time to tell my parents. At the end of that conversation they said, "We love you very much," and I knew I’d be okay. I’m a strong individual.
Keeping Cancer Away
Following the positive diagnosis of the mutation, I went to see a breast specialist. Routine testing was done and everything looked clear. She did mention a couple options: close monitoring every six months or having a preventative double mastectomy to hopefully keep breast cancer away. I was not ready for surgery, so I made an appointment for six months and went on my way. During those six months, I did a lot of research on preventative mastectomies. I called Sumedha once again and asked for her knowledge. Eventually, at the age of 25, I made the decision to go forward with a preventative double mastectomy.
My double mastectomy was scheduled for October 2016. Everything went very smoothly and surgery lasted about six hours. I had tissues expanders placed during the reconstruction part of the surgery. All my tissue that was removed was tested for cancer and thankfully, no cancer was found! I felt immediate relief and knew that I had made the right decision to help keep breast cancer from invading my body. Once I healed a bit, I went to the doctor’s office once a week for nine weeks to get my expanders filled with a saline solution to help expand my skin and muscle in preparation for implants. In January 2017, I had my last expansion appointment and the expanders had to stay in for a couple months. I had my implant exchange surgery in March. This surgery was definitely easier than the mastectomy and it was nice to have those expanders out!
Looking back on the past year of my life, I know there is no way I would have been able to make the difficult decisions I did without the help of my genetic counselor. During a very scary time, Sumedha helped take my worries away and plan for the heathiest future I can possibly have. I have a younger sister and younger brother who will potentially get tested, and I know they will love Sumedha as much as I do.
Despite my experience throughout this process, genetic testing is something that may not be viewed the same by everyone. Nor is the decision to have a mastectomy. I work in the medical field, so I saw the testing and the surgery as a positive way to take my health into my own hands and beat cancer before it had a chance to beat me. Testing positive for a BRCA1 mutation is not a death sentence, but I wasn’t willing to gamble with my future, especially having witnessed what my 29-year-old cousin and many family members went through. I am pleased and relieved I took the necessary steps for my health and I hope I was able to inspire someone else to do the same.
Lacey Ann Prestay currently resides in Michigan and keeps a personal blog about her BRCA1 mutation journey. You can read it here. If you feel you could benefit from meeting with a genetic counselor, find one in your area here.