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BRCA1 On Top of Lynch Syndrome, An Unexpected Finding for Our Family

April 03, 2023

BRCA1 On Top of Lynch Syndrome, An Unexpected Finding for Our Family

My mother died when I was 19.  I knew she had cancer, but I didn’t even know what cancer was.  I just knew that I was 19 and without a mother.

I was 42, married (still am) with two daughters, ages 11 and 13, when my cousin, who is a doctor and scientist, called to tell me that he had colon cancer and something called Lynch syndrome. His father had it too, and my cousin was pretty sure my mother had it as well.  He said I needed to have genetic testing to see if I had the same syndrome and predisposition to cancer.  I did not want to be part of his science experiment and I did not want to know that I would die prematurely. But after multiple conversations, I decided I would be tested and help him in his research. 

My test result showed that I had inherited an MSH2 gene mutation that causes Lynch syndrome. I assumed that my days were numbered. (My mother died from cancer that started in her uterus.) My cousin told me that wasn’t true and that I had options to manage my risk. I decided the best way to protect myself was to have a hysterectomy.

With my hysterectomy behind me and annual colonoscopies, endoscopies and skin scans, I am doing everything that was recommended to manage my Lynch syndrome risk. I then turned my focus to my daughters; had they inherited this gene from me? We celebrated when my younger daughter tested negative.  My older daughter called me crying after receiving her results in an e-mail. 

“I have Lynch syndrome,” she told me. 

 “That’s ok,” I said. “Me too. We got this.” 

Then she said, “I have a BRCA1 gene mutation too.”

I thought a train had hit me. I had to find out how she got the BRCA gene mutation. Genetic testing confirmed I had the same mutation. My daughter got her mutation from me.  And so my journey of learning about cancer risks, scans and preventive surgeries took a major turn as our family began living a new normal.  It is one thing when you are at high risk, but when it is your child, even an adult child, that is something else. Our first step was to develop a plan for my daughter.  Because she lives in Chicago and I live in New Jersey, we met with a genetic counselor via Zoom and made plans for doctor appointments, scans and MRIs.

Now it was time for me to address my breast cancer risks associated with my BRCA1 mutation. I began researching mastectomy and breast reconstruction. The next few months were filled with highs and lows.  I found tremendous support from certain doctors and medical offices and found others bizarrely unsupportive.  I received an email from a medical doctor referring to my two gene mutations as a “double whammy.”  A plastic surgeon told me he was shocked I had not developed breast cancer yet, saying that age 57 was “late in the game” for reconstruction.  Another surgeon ask me if I wanted to save my nipples; without explanation he told me I better give this thought and get back to him. 

But my breast surgeon was caring and supportive, and I found a plastic surgeon who was kind and  supportive.  Through my friends, I learned a new definition of what supportive really means. One friend stopped by with coffee, and another insisted on having dinner with me to ease my nerves. Friends came to my doctor appointments and stopped by with flowers, lotions, candles and notes to make me feel better. Some of them had similar surgeries and showed me their scars and their reconstructed breasts. They offered their surgical bras, shower seats and mastectomy insights.  A few friends’ mothers and fathers passed in the midst of my journey. When I called them to see how they were doing, they made the conversation about me instead.  My daughters showed me so much support, and we leaned on each other so much, we formed a new level of love that I did not know was possible.

I’ll have my mastectomy and DIEP flap breast reconstruction in six weeks.  I am ready and prepared. My daughter got engaged and is planning her wedding and is planning to have a family. She has an amazing team of doctors.  She will be closely monitored until she is ready for her surgeries, shortly after she has her children.

I believe that angels in this world appear at the right times.  I found some of them at FORCE.  I have attended three support groups, had multiple calls and plan to start volunteering as well.  You can find your own angels, just look!

Posted in: Risk Management , Genetic Testing , Stories , Family Communication
Tags: Genetic Testing , BRCA1 , Lynch Syndrome

6 Comments

May 7, 2023

Susan says:
Thank you for sharing this information. I had a bilateral mastectomy with aesthetic flat closure about a month ago. I have an ATM mutation, but I recently contacted my geneticist to ask more questions and we will be scheduling more tests as more are available not. My adult daughter will be doing this as well!

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April 7, 2023

Jemi Goldstein says:
We will carry you to the otherside of this journey. You are in our hearts, prayers and arms. You are loved!

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April 8, 2023

Joan Greenzeig Gottlieb says:
What an inspiring story! Good luck with your surgery. I’m sure making these decisions help to empower you. You got this!!!!

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April 12, 2023

Anna Millstein says:
Debbie, I have known you since I was born, and have always looked up to you as my strong, smart, cool, funny, loving cousin who makes everything in life more fun. I know you will face this with courage and strength, and you have an army of friends and family supporting you. Love you!

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May 3, 2023

julie ahlbrand says:
I also have BRCA1- at 54 I opted for a lumpectomy- BCS. I had to fight all the way for my choice. Several doctors refused to honor my wishes and refused to operate. We all have choices to make and they need to be respected. There are many paths to choose, a double mastectomy is not the only way to go. I am here! I am alive!

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April 30, 2023

Barb says:
Thank you so much for sharing your story and your courage and strength. So great to have company while walking this road.

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