I was only 30 when my 32-year-old sister was diagnosed with breast cancer. A couple years later, when a mobile mammography bus showed up at my law school offering free mammograms, I decided it couldn’t hurt to be screened. When my mammogram was normal, I made plans to wait until age 50 for my next mammogram. But at age 42, a lump in my breast was detected during an exam, which turned out to be breast cancer. Thankfully, after a lumpectomy and many months of chemotherapy and radiation, I was declared to have no evidence of disease. At this point, my oncologist began recommending genetic testing due to my family’s history of cancer.
For nine years, at every checkup my oncologist would once again bring up the subject of genetic testing. My response was always the same: “I’ll think about it.” But I didn’t. Finally, in 2009, my sister and I agreed to the testing when our mother was nearing the end of her own battle with cancer. We both tested positive for a BRCA1 mutation, and I knew I needed to have two risk-reducing surgeries, a double mastectomy and a complete hysterectomy. However, because I was self-employed, I did not have the time to take off work for two separate major surgeries, so my oncologist worked with me to make sure my one “big” surgery happened. After over 10 hours of surgery, I was stunned to learn the surgeon had unexpectedly discovered I already had early ovarian cancer! I firmly believe that I am alive today because of genetic testing. Had I not learned about MY FAULTY GENE through genetic testing and chosen risk-reducing surgeries, my cancer would have gone undetected until it was too late. I count every year since as a miracle year!
In 2020, I founded the non-profit My Faulty Gene (https://myfaultygene.org) as a way to “pay it forward” for being given the gift of life as a result of my genetic testing. My Faulty Gene is dedicated to helping ensure that everyone who needs genetic testing due to a suspected inherited gene mutation has access to it, because there is power in knowledge! After realizing that patient testimonials are a powerful way to share information, I went forward with a related effort, called Family Gene Share (https://familygeneshare.org), to create short professional videos focused on stories from individuals impacted by hereditary cancers. These videos are gene-specific and were created to help share genetic test results with family members and educate them about the importance of testing and care if they have an inherited cancer gene mutation.
Because educating about hereditary cancer risks is very important to me, I often reshare ICARE’s excellent gene-specific content on My Faulty Gene’s social media platforms. I am also personally enrolled in ICARE and encourage others to join, since I know research is the key to understanding inherited cancer risks and improving patient outcomes. With two of my children having inherited my BRCA1 mutation and with grandchildren at a 50% risk of having the mutation, there’s nothing more important to me.
