ATM gene mutation and breast cancer: A mother and daughter’s story

That was the mantra I repeated to myself in September 2007, standing in front of the cold mammogram plate, trying to stay calm. Just two months earlier, my husband had found a lump in my breast. I had just begun weaning our one-year-old daughter, and I reassured him it was nothing more than a clogged milk duct. Surely, it would resolve on its own. But it didn’t.

The lump grew, and so did our concern. Now, there I was, 28 years old, the mother of a toddler and a preschooler, having my first mammogram. I still believed it would turn out to be nothing. After all, I was young. I was healthy. And I had no family history.

As the technician pressed the plate to my chest, my still-engorged breast sprayed milk onto the wall. It brought a burst of laughter to an otherwise tense moment. That laughter helped settle me, until the radiologist entered the room and pointed out a large area of calcifications. He recommended a biopsy. Immediately.

I delayed it. Between caring for my daughter and three-year-old son, starting work as an LPN in urgent care, standing up in a friend’s wedding, and studying to become an RN, I just didn’t have time. The radiologist urged me to act quickly, but I scheduled the biopsy for October 11.

Four days after the biopsy, I received my diagnosis.

Parenting through treatment

The thoughts came fast and without mercy. I was devastated. Would I see my son start kindergarten? Would I be there when my daughter entered preschool?

Spoiler alert: I was there to see them grow up. Today, my son is 21 and working as an EMT. My daughter is 19 and just finished her first year of college.

The years in between were not easy. I parented two small children while going through active treatment. Then I parented two active, growing kids while dealing with the long-term effects of surgery, chemotherapy, and aromatase inhibitors.

Mothering while managing fear

One thing that has been a constant in my life is worry — especially for my daughter.

I lived for 27 years without breast cancer on my radar. But my daughter has never known a life without it. When she was in middle school, she asked me, “When will I get breast cancer?”

In 2008, I underwent genetic testing. At the time, only the BRCA mutations were known. I tested negative, but an unknown variant was noted. I was told it might be something we didn’t yet know how to interpret and advised to consider retesting as science evolved.

Years later, a paternal cousin was diagnosed with breast cancer at 39. She, her sister, and her daughter tested positive for a mutation in the ATM gene. I decided to be retested and also tested positive for the same mutation.

Then, just as I thought I might finally cross the finish line of raising my children without another major health challenge, I was diagnosed with a recurrence on my right chest wall. I was 41. It was 2021 and five days before my daughter’s fifteenth birthday.

Navigating genetics and choice

With guidance from others who’d been through something similar, I chose not to push my daughter to get tested right away. I wanted her to make that decision for herself when she turned 18.

In the meantime, she became proactive in her own care. She asked her pediatrician to begin clinical breast exams and learned how to do self-exams. She knows she can start mammograms at 21. And last year, after turning 18, she made the decision to go through genetic testing.

She tested positive for the same ATM mutation.

From guilt to empowerment

When we got the results, I felt a familiar wave of guilt – how I wished my genetics didn’t mean that she had to worry about breast cancer. But I also felt proud of her. She had been so clear-eyed and matter-of-fact about her increased risk all these years. She had asked the hard questions. So, when she learned the official results, she coped better than I did. Comforting me, she said, “Mom, it’s okay, it’s not a surprise. And at least I know. Don’t be upset about it.”

She took control.

Social media and websites like Living Beyond Breast Cancer have helped her connect with other young people who carry a hereditary risk. She’s not alone. And most importantly, she will never dismiss a lump or delay a screening, no matter how busy life gets.

Unlike me, she will know that there is no such thing as being too young for breast cancer.