As an I.T. specialist in the healthcare industry, Amy Hermann is used to providing the platform for individuals to access health information. Except for routine check-ups, she enjoyed good health, rarely having the need to see a physician. A baseline mammogram in 2007, diagnostic tests, and more mammograms over a few years began Amy's journey to acquire information on why she, a healthy young woman with no strong family history of breast cancer, was suddenly diagnosed with it.
"When I had my baseline mammogram at 39, I got a call back from that. They took more pictures, said everything was fine, but wanted to check it in six months." Six months later Amy returned for screening and then went annually with no issues until her mammogram in October 2011. "I was called back for a diagnostic mammogram and I wasn't too worried because on two other occasions I had been called back and everything was okay in the end. Plus I had two clear mammograms in between. This time was very different, they only took two or three pictures and said, 'You will need the ultrasound.' Three doctors and about twenty hours later I had a breast biopsy. A week later my breast specialist said, "It's cancer."
Amy was 42 years old. There was no history of pre-menopausal women with breast cancer in her family. Her grandmothers had cancer later, one in menopause and the other was in her eighties when she had it. "My specialist, God bless his soul," she says indebted, "kept saying, 'You're so young.' It was probably a combination of my age and we didn't have the HER2 status yet. My cancer was appearing to be triple negative cancer." Her doctor felt strongly Amy should get genetic testing.
"Even though it was irrational, I felt as if I brought cancer upon my entire family," Amy says about being told she has a BRCA mutation. "It's bad enough to find out you have cancer and all that means to you and those that love you, but then to find out it is 'contagious' to those you love most was truly terrible. Not really contagious," she clarifies shifting around in her chair, "but their risk is high as a result of the BRCA mutation."
Upon learning this news, Amy first shared her results with her parents and three sisters. Timing for genetic testing differed for her family. "It was easier for a parent to be tested and determine whether their children, particularly daughters, would even need to be tested," she explains. "After me, my dad went for testing. He came back positive. One by one my three sisters went for testing. Two are positive, the other is negative. We notified my uncles and cousins. Knowledge is power," says Amy, "However, it is scary knowledge. Not all of them reacted the same way." Of her dad's two brothers, one chose to have genetic testing and one declined; each has children and grandchildren. As results came in, the family was able to determine that the BRCA mutation was passed down through the men in her father's family.
For Amy, genetic testing provided clarity for decision-making for her breast cancer treatments. "There was no longer the question, 'Will I get a lumpectomy?' It was absolutely a bilateral mastectomy," she says firmly. "My doctor said with the BRCA2 mutation, there's an increased chance it will come back in the other breast within five years. Well, I didn't want that," she says emphatically. "I had my ovaries and fallopian tubes removed three weeks after my last chemo treatment to prevent ovarian cancer."
The majority of BRCA2 cancers are usually hormone estrogen receptor positive. Laughing, Amy says, "Of course I had to be an exception on everything. I had triple negative breast cancer. And when I was getting all of my scanning done they noticed my thyroid was enlarged. So they recommended I follow up and get it taken care of."
Through her employer, Amy is enrolled with Blueprint for Wellness, a comprehensive program designed to help improve patient understanding of their health and well-being by providing new insights through laboratory results. "I have this great baseline of every measure test possible," she explains. "I was able to track and understand what changed with my thyroid. It was affected by my chemo treatments. Now I am on maintenance medication for the rest of my life."
Amy finds it ironic and disconcerting that she went from never being sick, never taking any medications or seeing doctors for ailments to having a diagnosis over which she has no control. "I don't deal with that, so my only sense of control is I went to Staples." Her voice rises an octave with excitement. "And I bought a notebook and tabs, and business card holders and dividers, and folders and little heart stickies and pink pens," she itemizes. "And I got all ready for all of my appointments. Every piece of information I would get, I filed. I had tabs for all of my different doctors and I printed out an 18 month calendar and I wrote all my appointments down. THIS was my sanity," she emphasizes. "The only thing in the whole situation that I could control was how I managed the information that was coming in. I started with a one inch binder and then I had to move to a three inch binder. It still doesn't hold all of the stuff I have," she exclaims.
It's really no wonder she's outgrown her initial notebook. On a regular basis, Amy sees five specialists that manage her risks and current health problems. "Now I see my breast specialist once a year, my oncologist twice a year. As soon as I found out I have BRCA2 I made an appointment with a dermatologist for melanoma screening due to my increased risk. I've already had suspicious moles removed but so far everything is okay. I have recurring appointments with my dermatologist and my endocrinologist for my hypothyroid. I see my GYN every two years now."
One of the most important things Amy has learned during the course of her journey is not to judge others, especially when it comes to genetic testing "because no one else walks in the other person's shoes. Knowing what I know now, if I was a patient without cancer and tested BRCA positive, I would go the route of reducing my risks. Getting cancer, no matter how small it is when they catch it, you know if you have it – you have it. I don't want to catch it early, I don't ever want to get it! My sisters have done different preventative measures. I didn't weigh in until they made their decisions on anything because it was their own decisions and they have to be comfortable with them. I wanted my daughter to make her own decision but she had already made her mind up what she was doing."
From the day Amy's daughter learned of her BRCA mutation, she asked when she could get tested. She was only 20. "I really needed to hold her off, get through my treatments and have her in a better place than me being visibly sick in front of her. They recommend genetic testing at age 25 but my daughter chose to test early. She wanted to know and my niece did too. My daughter and niece were 21 and 19 respectively when they decided to test a year after my diagnosis." Amy's niece is negative, her daughter is positive. For her son, age 14, they are following a recommendation of testing at age 30. If that changes or if he decides to have children before 30, then he'll have his genetic testing.
Through all the tumult and turmoil, Amy is very glad her breast doctor suggested genetic testing. "It changed my whole course of therapy. It's had long ranging impacts for the rest of my family. There aren't very effective screenings for ovarian cancer; knowledge allows you to understand your options and risks and make life-changing decisions.
"I have a couple great support groups which help me when I need it. My primary oncologist is one of the best specialists in the world. My family and friend support systems are great as well." Amy and her husband have been together for 27 years and married for almost 24 of them. "He was and is my rock," she says, full of emotion. "He was there for me through the entire process. He never looked at me with anything but love in his eyes, even in my darkest moments. Having cancer has changed my whole philosophy on life. I try not to sweat the small stuff. Getting older is not a tragedy, nor a right. It is a gift. I want to get older. I don't ever, ever, ever wish a day away. You never know how much time you have left, no matter your circumstances. I remind myself that each day and every birthday is a privilege."