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I lost a distant relative to ovarian cancer. As part of her treatment, she underwent a genetic screening to determine if she carried the gene related to ovarian cancer. She did, and she informed our family. At the time, the testing was prohibitively expensive, so we did not consider having it done.
In 2015, I enrolled in a local study by the HudsonAlpha Institute for Biotechnology to be genetically screened for breast cancer genes. I learned I carried the BRACA2 gene.
Given that I had been blessed with my son and twin girls and had already endured three years of biopsies, mammograms, and ultrasounds, I elected to proceed with surgical intervention. My family members were also tested, and all proved to be negative. I am the only one with the BRACA2 gene, inherited from my father’s side of the family.
Previously by Dr. Swartz: Blog: How I managed a day of ER referrals
My husband’s side of the family also carries hereditary diseases, including severe Alzheimer’s disease and Charcot-Marie-Tooth disease, the most commonly inherited form of peripheral neuropathy.
Knowing your children may have inherited not one but several diseases from your genetic makeup is a heavy burden. It is one I intended to avoid dealing with for some time.
I had planned to pursue my children’s genetic testing for the BRACA2 gene at my genetic counselor’s recommended age of 26. Whether the results are positive or negative for a gene mutation, genetic testing has potential benefits.