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Living Life to its Fullest with an ATM Mutation in a Coronavirus Pandemic

June 11, 2021

Living Life to its Fullest with an ATM Mutation in a Coronavirus Pandemic

by Sharmila Sandhu

I have always been a private person and kept personal issues to myself and a small, insulated group of friends. Therefore, when I received my breast cancer diagnosis in summer 2020, I didn’t want to burden others. I had no idea how and with whom to share the news, much less how to process it myself. After discussing with my husband, I took the “business as usual” approach that I had used all my life with challenging news: keep moving, don’t let it slow you down, keep it in a corner of your brain and deal with it just as you would deal with any other task. While in some ways my compartmentalization was helpful, that approach was not going to be good for the emotional health and well-being of my spouse or my 12- and 9-year-old children, whose lives also changed the second that I heard the word “cancer.”

Learning and accepting the realities of ATM

The news hit me hard. I wasn’t completely shocked because I had a family history of breast cancer, and I knew that I carried an ATM mutation. I lost my sister to the disease three years earlier. She wanted me to know my status so I could take action to protect myself and my children. That is the greatest gift one can give. My positive genetic test years earlier was my wake-up call to be vigilant about annual screenings, mammograms and breast MRIs. I had ritualistically maintained these screenings without an abnormal finding.

Like BRCA, ATM has troubling associations with breast and other cancers. Although researchers are learning more about this gene, the data is presently limited. More people are needed to participate in studies so that we can better understand ATM and other high-risk genes. As a lawyer and researcher, I spent significant time learning about ATM, including consulting with genetics experts. FORCE is integral in helping patients and caregivers with that effort.

Yet, it was still surprising when an abnormal finding was flagged on my mammogram, which triggered a diagnostic mammogram. I exercised regularly, tried to eat nutritiously and had consistently been in good health. I was reassured that this sometimes happens, and told not to worry. Due to the placement of the abnormality, which appeared to be microcalcifications, I needed a stereotactic biopsy to pinpoint the problem area. About a week later, my radiologist called to tell me the biopsy showed ductal carcinoma in situ (DCIS).

Now what?

I quickly learned that I had a decision to make. I could have the small area of DCIS removed with a lumpectomy possibly followed by radiation or have both breasts removed. Even though DCIS was only in one breast, unilateral mastectomy is not recommended for someone like me who is at high risk. For most women who don’t have a genetic mutation or a family history of breast cancer, the decision might be easier. They would likely choose the less invasive option, preserving their breast tissue and moving on with regular screenings. For me, the risk was just too high after seeing my sister suffer. So, my attitude was, just take my breasts. I opted to have a bilateral mastectomy.  

Screening and surgery during the pandemic

We were approaching the sixth month of the national coronavirus pandemic. Like so many others, my family remained almost entirely quarantined with my children in full-time remote schooling. My mammogram and subsequent biopsies were nearly the only times I had left my home since March. I was extremely anxious about the surgery and open about my fears with my healthcare team. I was especially fearful about having to walk into the surgical waiting room and pre-op alone because family members were not allowed due to COVID-19. Having a caring, empathetic team was critical for my preparation. The oncology and surgical team answered all of my questions about what to expect regarding the operation and recovery, including anesthesia, pain, drain care, post-op medications, recovery timeframe and many, many other questions. I was as prepared as I could be and strongly supported by my family, friends and FORCE connections. The surgery was successful, and with my final reconstruction procedure recently completed, I can close this chapter of my life. I can move forward knowing I made the best decision for my family and me. I look forward to continuing to live life to its fullest, while still knowing that I must stay vigilant about my ATM mutation.

Giving thanks

Nothing puts life into perspective like getting a cancer diagnosis. I give thanks for my health and my life. I am grateful for my spouse, family and close friends who showed up for me every day. I give thanks for the volunteers in the FORCE Peer Navigator program who spent hours on the phone with me. I recently completed Peer Navigator training and began the process of paying it forward. If I can help even one woman feel more understood and informed or prompt her to obtain the mammogram or other cancer screening that she needs, my experiences will have been worth it. Each day is a gift. 

Posted in: Stories
Tags: ATM , COVID19

5 Comments

May 3, 2024

Christine Nichols says:
I was diagnosed with ovarian cancer in 2022, had a hysterectomy and did genetic testing afterwards. I found out I have the ATM genetic mutation, and just this week found out I have breast cancer. Fully prepared to have a double mastectomy, but am curious to know if others have had to have either chemotherapy or radiation treatments. Both my siblings died in 2023 of cancer, and I am very nervous. Please advise. Thank you

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March 6, 2022

Theresa Gasser says:
Thank You for sharing! I had genetic testing in March of 2020 after decades of inconclusive, breast MRIs, biopsies, and lumpectomies. When I had my first genetic test in 2012, 17 gene mutations were being studied, the most popular being BRCA. In March of 2020, any one of 84 gene mutations could be identified and unlike my testing in 2012, my husband and my four adult children were also tested because of our family history. Genetic testing most definitely has saved my life and my son's life. I was identified as having the ATM gene mutation. Mt husband and three of our four children have Lynch syndrome, a genetic mutation that identifies very high risk for colon cancer. My husband had been having regular colonoscopies, but my children were all in their 30s. No one without symptoms in their 30s would think to ask for a colonoscopy or expect insurance to pay for one. After hearing of Chadwick Boseman's death, my worries about ATM were immediately tabled and my husband and I were adamant that our adult children have colonoscopies. This was easier said than done. They all moved households during this time for reasons related to employment and, we were in the middle of a pandemic with no vaccine available yet. We have also had three grandchildren born during the pandemic. No one schedules a colonoscopy while pregnant. Very long story short, my son at age 36 had a significant number of colon polyps that required two more 6-month follow-up colonoscopies. He now schedules a colonoscopy every 3 years and he is 37 years old. I am two weeks out of a bilateral radical mastectomy with DIEP Flap natural breast reconstruction. Explaining to friends and family why I had this surgery has been difficult. It was considered prophylactic, and, many people considered it radical. I am very thankful to have had the surgery. My pathology results showed ductal carcinoma in-situ (DCIS) in my right breast. Good thing I chose this surgery. Most of my friends have never considered genetic testing, even given a family history. I am looking forward to spreading information. Theresa

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January 12, 2024

Andrea Ludka says:
Wow - I am doing some "on line" research which can often be dangerous, but I found your article. I was diagnosed w/DCIS five years ago in December, being under the age of 50, living in the number one county in Michigan for this demographic and breast cancer, I was really thinking this cancer was "environmental." To my shock, when I heard I had the mutation it was nothing but spinning and a black cloud until I went to the University of MIchigan and had the genetist who had largely only studied the ATM mutation. I also learned BRCA1 and 2 had a copy right until 2013 on the research of cancer, leaving me with a few five short years, now 10. I work in medicine, and I recall going to an event and a onc pharm rep replied, "you are the one with the gene that has all the cancer risks....." Because my family is riddled w/cancer, primarily environmental, it was determined in my situation the risk of these cancers were so high, that I would undergo the lumpectomy/radiation as the Tamoixfen would become the internal fighter for the pancreas, ovaries, ect. -- I had to be totally rewired. I also learned that whether five or ten years, statistically, I had to make it to five years -- that will be March 16, 2024. There have been many of tears and wanting to throw that bottle down the toilet -- but soon I can say I made it. Most days, mentally, I am prepared for the foggy crystal ball genetics have given me. I have three daughters, and my oldest will soon begin her screenings at 22. I pray we as a society can learn so much of ATM so other woman have the answers we continue to search for. I am most grateful to run into your story -- although a very different clinical pathway, we are connected by DCIS and ATM... two acronyms that forever changed our world. Blessings to you!

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December 18, 2023

Denise Guthrie says:
Sharmila - I found out I have this genetic defect as well, and was researching the implications when I found your article. I’m so sorry for what you went through but so glad you wrote this blog! I’m not sure what to do next but I’m grateful to not be alone in this journey. Denise

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November 1, 2021

Sangeeta Bolesta says:
I have requested Sharmila Sandhu as a peer navigator. I am of South Asian descent with ATM mutation and current DCIS diagnosis. I would appreciate if Sharmila could contact me at above email address. Thanks much!

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