LBBC guest blogger Kate Crawford’s family was no stranger to cancer of all types, but after she was diagnosed at the age of 28 with HER2 + metastatic breast cancer the family started to wonder if genetics were to blame and urged her to undergo genetic testing. Today she shares her story on making the decision to have genetic testing and how that affected her and her family, including her young children.
I was 28. I had no family history of breast cancer, but had a family history of cancer in general. My mother was diagnosed with thyroid cancer at 27, my grandmother died as a result of an incurable brain tumor and my grandfather had pancreatic cancer. One thing everyone pondered when I was diagnosed was: why? Why would an overall healthy young woman present with metastatic breast cancer? It is an extremely personal decision to have genetic testing. More than half of gene mutations are hereditary which means a diagnosis of an abnormality may mean your mother, sister, niece, cousin or your child could also be at risk.
I was worried about my children and decided to meet with the oncology genetic counselor in early 2013. It was one of the most informative meetings I had concerning my diagnosis. She explained to me how genetics play a role in cancer. Genes are fragments inside of cells, which are in chromosomes, and made of DNA. DNA contains the instructions for building proteins, which controls the how the cells make up your body. If there is a mistake in one of your genes, those cells will not grow and function properly which can lead to genetic abnormalities, like being more prone to develop certain cancers. She suggested that I be tested for the popular BRCA 1 & 2 gene mutations. A simple blood test and a little bit of waiting revealed that I was negative for a BRCA abnormality. “I would like to have you tested for one more thing.” she quietly stated, “Li-Fraumeni Syndrome”. “Li-Fra-what?” I asked. Continue reading