ATM Mutation, Part II - An Interview with My Sister
As part of my ongoing series about how the ATM mutation has affected my family since we have discovered how widespread it is, this installment is based on interviewing one of my sisters, Amy, who was diagnosed with the ATM germline mutation, like me, and who had a prophylactic double mastectomy as a result. Our other sister, Anna, is negative. And yes, most of us have names starting with "A."
Developing a treatment support plan
When my Oncotype score came back high enough that my doctor recommended chemo, my mother, a breast cancer survivor, jumped into action. She scheduled at least one of my siblings to travel to my home to stay with me for the day of chemo and the weekend after. Since I'm one of six (6), there were plenty of people to take each "shift."
My sister volunteered for the first shift and flew down to Orlando from New York City, where she lived then, to spend time with me. She told me that being able to come and help make her happy, knowing that there was something tangible she could do for me. Since I'm the eldest, I'm usually the one doing things for my siblings rather than the other way around. She reminded me that she noticed me limping even though we didn't know I was Stage IV yet. We spent some of the time during that first chemo session planning our other sister's bridal shower.
Stage 4 diagnosis
Amy recounted her vivid memory of when I called her about finding out that I am stage IV in this way: "I was getting my hair colored and thought it would be a good time to take a call. When the news was so dire, I just sat there with tears streaming down my face, in the presence of strangers in the salon. It was the most surreal moment I can remember, doing something so mundane and yet getting such devastating news."
Once I finished the "active" stage of treatment, I moved with my family from Orlando to Miami to be with my parents. Amy soon followed, relocating with her husband and daughter, my niece, to be with me. She said, of the move, "It was again, something tangible that I could do. I could be closer to be of help and support my sister and her boys."
Positive for ATM mutation
When I found out that I was ATM positive, it rocked the entire family. Amy visited a genetic counselor in New York before she moved down to Miami to explore her options. The counselor recommended that she ensure that her life and disability insurance was in order before undergoing the testing. About finding out she was positive, after moving down to Miami, she said "I was stunned and caught off guard, especially because I went by myself. What I knew about genetic mutations was limited to BRCA and I didn't understand that there were other genes out there to be concerned about. The other thing that heightened my anxiety is that I got the results on the date when you (Abigail) were diagnosed with breast cancer (March 8th) and I was the exact same age as you (Abigail) when you were diagnosed."
Early monitoring based on family history
In light of our family history, Amy had started getting mammograms around age 35. Since she had dense tissue, she had to undergo extra testing each year, including ultrasounds and, sometimes, an MRI. When she discovered that she was ATM positive, the answer was pretty clear, a prophylactic double mastectomy. The problem was, she didn't know about all the options and it took some time to get up to speed.
When it comes to children, Amy has a lot of concerns about her daughter and her risk factors. In our family, breast cancer has been diagnosed earlier in each generation. Our maternal grandfather had prostate cancer (also linked to ATM) and our Uncle had prostate cancer 10 years younger than his father. Our mother had breast cancer around age 50 and I was 38. Thinking about the next generation, Amy had this to say: "I'm worried for my daughter that she may be affected by cancer before she has a life partner when the potential disfigurement of surgery would affect her life in a much more potent way."
Genetic testing for children
Amy and I talked about how frustrating it is to want to know if our minor children are positive for the ATM mutation but can't have that information as it is unethical to test minors for genes that could affect them only as an adult. It's hard as a mother to separate those two things -- our need to know and the important step to allow children to make their own choices in their own time.
Of her move to Florida, Amy said the following: "It has been a big adjustment since you (Abigail) and I haven't lived in the same town since you (Abigail) were in college and I was in high school. Other than the ability to be supportive of you (Abigail) and assist with managing appointments and childcare and all the details of life, the experience of seeing our children grow up together and do life and school and all kinds of experiences together has been an amazing silver lining. Whatever comes, we will face it together."
Lots of things run in families. Genetic mutations are an example of something that isn't a positive thing. Being supportive of one another and doing life together, is a positive thing and I'm so thankful that a silver lining of having cancer is that I get to do life with my family in a different way.
Have you ever changed your treatment regimen because you were experiencing side effects?