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The Importance of Talking About Family Medical History: The Discussion That Led to My ATM and PALB2 Diagnosis

August 24, 2020

The Importance of Talking About Family Medical History: The Discussion That Led to My ATM and PALB2 Diagnosis

By Susan Karnick

The history I never knew

I never worried about breast or any other cancer because the women in my family never talked about it, even though my maternal grandmother was diagnosed with breast cancer at age 42 and years later with colon cancer. Another close family member was diagnosed with breast cancer at age 55, but thought little of it until she was again diagnosed with breast cancer at age 70. At that time, she was offered genetic testing for a BRCA mutation and was negative. That was the end of the discussion until a few years ago when she made some general comments about ALL the cancers in the family.

Sound advice led to my ATM and PALB2 mutation diagnoses

My family’s medical news was shocking, but prompted me into action. I began seeing a breast specialist who listened very carefully to my family’s story and recommended genetic counseling and testing. I could not have imagined the results. I was diagnosed with the lesser common ATM and PALB2 mutations. I did not know what to do.

What next

My research led to a genetics specialist and a high-risk cancer specialist at The University of Chicago who worked with me to put a screening plan in place. In addition to my increased risk of breast cancer, I was now at a higher risk for colon and kidney cancer and had a small risk profile for pancreatic cancer and melanoma.

I had a colonoscopy, a skin check with the dermatologist and tests to check my abdominal organs. I also began a regular surveillance program and alternated breast MRI, mammogram and ultrasound screenings every four months. These tests, and the waiting for results, caused a great deal of anxiety. I later decided to undergo a prophylactic double mastectomy to reduce my risk of breast cancer, something that seemed to have plagued almost every woman in my mother’s family.

FORCE helped me through

I could not have gotten through these last few years without the support of FORCE. They offered the support and advocacy help I needed. Through FORCE, I was able to meet and talk to others who were going through a similar experience, which seemed to lessen the burden a bit. 

When my insurance company mysteriously said they would not pay for my mastectomy, FORCE provided me with the forms (which were available right on its website!) to submit. It was more than a year of frustration, but they eventually covered the surgery I so desperately wanted. I don’t know what would have happened without the help I received from FORCE and I am so grateful.

I am a grateful previvor

I am so grateful to have been given the choice to have a mastectomy and to avoid the cancer that has afflicted so many women in my family. I had the gift of information and was able to make an educated decision. I want to tell anyone else who finds themselves in this situation that FORCE is a vital resource, providing support and information that is invaluable to those with genetic mutations. I have learned and received so much support and met the most wonderful people. The knowledge and support I have received has allowed me to be proactive and, most importantly, to be here with my family for many years to come.

Susan Karnick, ATM and PALB2 Previvor

Posted in: Stories
Tags: Breast Cancer , PALB2 , ATM , Colorectal Cancer , Family Story , Family Tree

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