Health Update: 9 Months Later

This past Friday I had an appointment with a genetic counselor at W&I Hospital at the recommendation of my oncologist and the insistence of my mother. A genetic counselor’s job is essentially to help identify genetic disorders and provide guidance to families based on the presence of a genetic disorder.

In my case, we are looking for the presence of the BRCA1 and BRCA2 gene mutations. If I test positive the likelihood of developing other types of cancers are increased. My understanding is that if you are diagnosed with ovarian cancer and carry a harmful gene mutation the chances of developing breast cancer is much higher, about 87%. Carrying the gene has implications for both myself and members of my family.

If I were to test positive, they would then encourage one of my parents to test. Let’s say for example that my mom then tested and tested negative. We would then know that the gene mutation came from my dad. We would then encourage my brother to test for the gene as it could potentially negatively impact him or his future children (particularly if he were to have a daughter). BRCA genes do not skip generations. Although you may carry the gene it does not mean that you will develop cancer. It just leaves you at a higher risk of developing cancer.

When speaking with the genetic counselor my parents and I went through our entire family history to the best of our knowledge. We focused on grandparents, aunts, uncles, cousins etc. We were able to identify two types of cancers on Dad’s side of the family. Only one of the two was a women’s cancer and neither was Ovarian. We are not very close with Dad’s family so I honestly had no idea about any of this history. My parents were kind enough to call a distant relative that they have been estranged from for information. Luckily, this relative was very warm and forthcoming with information.

Even with the small presence of cancer on Dad’s side of the family there were no established patterns. There is also no evidence of breast cancer on either side which is promising. Based on our family history, the genetic counselor is inclined to believe that I do not carry the gene and the cause is not genetic. I did a quick saliva test to be sure. We will know for sure once the test results come back in about five weeks.

I feel very indifferent about the test results. On one hand if I carry the gene that will help to explain the mystery of why I developed cancer. On the other hand it could potentially have implications for my family members. If I do not carry the gene there are other genetic tests that we can do but some of what they are testing for is relatively new in medical science and they do not have enough samples or background to draw conclusions about the “why”. I’m not necessarily anxious about the results. I am happy to test to ensure that we can take preventative measures for my family’s wellbeing.

Bottom line, at this point I have little interest in finding out why I got sick. I knew that I was such a medical enigma that I don’t think I ever really truly worried that much because it was made out to be so rare and complicated. If I test positive for BRCA we will take it form there. If I test negative I am going to keep moving along with my new happy healthy second chance at life.