The Mean Gene: Why BRCA Testing Matters
By Julie Auton
I had envisioned my 50th birthday in Greece. Instead, I "vacationed" at Northside Hospital. That was not my plan. But, cancer rarely regards our plans.
I thought I was through with breast cancer, after battling the disease at age 42. For seven years, my regular checkups were cancer-free. And then, my oncologist put a halt to my winning streak. She suggested genetic testing. I didn't think I was a candidate. After all, I had been told there was no evidence of a hereditary link with me developing cancer. Cancer had struck my distant relatives in their elderly years, when anyone is susceptible.
But, the two breast cancer genes, BRCA 1 and BRCA 2, surface more often among younger women. And that made me a candidate for testing. The fact that my health insurance paid 100 percent for the $3,000 test further nominated me.
Even so, I brushed off my oncologist's advice. It was yet one more thing to occupy my time. As a cancer survivor, you endure countless doctors' appointments, tests and screenings. I've lived in waiting rooms and spent hours on the phone, dealing with insurance claims. Genetic testing seemed like an unnecessary burden.
However, during my annual exam with my gynecologist, she confirmed my oncologist’s advice and took it a step further. If I carried the BRCA gene mutation, she warned me, I was not only more susceptible for developing another breast cancer, but I'd also be at high risk for ovarian cancer. And that could be deadly since there are no accurate screenings for early stages of this disease. That convinced me.
Genetic testing begins with a visit with a genetics counselor and requires a doctor's orders. The counselor reviews your family history and gives a quick high school biology lesson. Bottom line: If you have the BRCA gene mutation, it means that something has gone wrong in your DNA.
As I discovered, I had an extra "set" of DNA on the BRCA 1 gene. My genetic counselor described it as "comparable to having two Chapter 13s in a book."
The test is simple. A vial of blood is drawn and sent Myriad Laboratories in Salt Lake, Utah. Myriad is the only lab in the country that conducts BRCA gene testing. It takes roughly three weeks to receive your results.
After obtaining evidence of my genetic mutation, I began investigating my next steps -- which meant surgical options. If having the BRCA gene exposed me to a higher risk of both breast cancer and ovarian cancer, then I needed a double mastectomy and hysterectomy.
I contacted my network of breast cancer survivors for advice and found top docs in the three areas I needed: a breast surgeon to perform the mastectomies, a plastic surgeon to do reconstruction, and an gynecological oncologist for a hysterectomy.
BRCA testing and the resulting surgeries involve an enormous amount of time, research, energy, emotion, decisions and coordination. There's a lot of fear and unknowns. I had to undergo every test imaginable preparing for surgery. I had to make decisions about my breast size and if I wanted implants.
But, I ultimately chose all this surgery because I chose life. I cared more about living than having breasts or ovaries. Yes, there are side-effects and surgery isn't a walk in the park -- or a vacation in Greece -- but in the end, I got peace of mind and, as it turned out, I saved my life.
Not one to postpone the inevitable, I signed up for the earliest available dates for my three surgeons. Fortunately, they had a history of working as a team. So, last February, I was off to O.R.
The process actually involves two surgeries: the first in which your breast tissue is removed and the first phase of breast reconstruction takes place. The ovaries and fallopian tubes are also removed. However, according to my surgeons, the uterus is not removed because it places too much stress on your body on top of all the other surgery. The second surgery involves removal of the uterus and the final stage of breast reconstruction.
The first operation is the longest and toughest. I was under anesthesia for over six hours. Despite the cutesy term, "tummy tuck," there's nothing cute about this procedure. They remove tissue, nerves, blood vessels and fat from your lower abdomen and use this to stuff your breasts -- kind of like re-stuffing a worn-out teddy bear with new material.
Nurses will provide plenty of pain medication, but recovery is still daunting. Depending on your physical state, you're in the hospital for four to five days.
But the body is a miracle and slowly but surely heals over time. I went home to six weeks of rest and recovery. You will need every second of that time to heal. I learned that the body uses energy to heal, which explained why I felt like I had been hit by a truck. I was gasping for breath by something as simple as walking into the kitchen. I napped daily. My movements were slow. My body was weak.
On the positive side, there wasn't all the blood and gore I had expected after surgery. I did, however, have six disgusting "drains" dangling from my abdomen in which I had to empty fluid throughout the day. Other than that, I didn't have oozing wounds and yucky stuff, which was a relief.
And after six weeks, I was back on my feet again, back to exercising, back to work and resuming most of my normal activities.
Upon my follow-up doctor's appointment, I was told they discovered pre-cancerous cells on my fallopian tube. If I postponed this "elective" surgery even six months, it would have been a different story in terms of ovarian cancer progressing in my body.
When I reported this to my oncologist, she confirmed that this is often the case with women who have had breast cancer and carry the BRCA gene.
So, my advice to all breast cancer survivors, especially if you have daughters: Investigate genetic testing. Like me, it could save your life.
For more information about the author's BRCA experience, check out http://brcaismy4letterword.blogspot.com