Disclaimer: I am not a medical professional, this is my experience and the information that was provided to me during my interactions. Genetic counseling is not for everyone and must be deemed medically necessary. Talk to your primary care physician about your family history and personal risk.
Let’s start with the voicemail that gave me peace of mind.
“Hi this is a message for Katie, this is [insert name of the wonderful genetic counselor I met with], calling you with good news about your genetics testing results. Please call me…” the rest doesn’t matter.
Now lest go back to the beginning. Breast cancer has always been at the forefront of my mind, after losing a paternal aunt and watching my paternal grandmother recover from a mastectomy. The constant fear that I could be next lingered in the back of my head for years.
After the birth of my daughter in 2016, I looked into genetic counseling and subsequent testing. After speaking with my OBGYN, I decided that I needed the peace of mind to know if I were to have an interaction with cancer in my future it would be by chance/environment and not genetics. I wanted to have the opportunity to take on the typically early age diagnosis that is parallel to cancers linked to genetics as soon as I could. Testing can be done on the individual questioning (me in this case), but they prefer to test the individual who has the cancer to see if they have the mutation in BRCA1/BRCA2. Unfortunately, the testing was not done/available when they were alive and thus the testing fell on me.
I waited six months for my appointment and stressed about it every minute for the week leading up to it. I am thankful that my mother/family historian was able to attend the appointment and walk the counselor and me through several generations of cancer.
The counselor then spoke to the 12% lifetime risk that every woman faces, types of testing, and the three outcomes if I decided to move forward with testing (which she recommended). She reviewed that the test looks for mutations in the BRCA1/BRCA2 genes, which are tumor suppressor genes. But this isn’t 8th-grade biology so if you want to know more about genes – go ahead and ask my BFF the interwebs (just make sure you’re reading from a trusted source) or your doctor.
The first possible result is Positive. But it’s hard to use the word positive because it is not as clear-cut as that. Getting a positive result does not mean that I tested positive for cancer. It means that a mutation was found in a BRCA1/BRCA2 gene. The mutation would move my lifetime risk from 12% to 80%, resulting in a treatment plan that would most typically result in surgery. Let’s think of this more as ‘mutation found.’
The second is Negative/Normal. Again, not really negative, I’m not cancer-free, at the very least I am still at the 12% lifetime risk. It simply means no noted mutation in the BRCA1/BRCA2 gene. At this point, my family history is taken into account to help determine my treatment plan. I would be given a calculated lifetime risk with my family history factored in. If this number is above 20%, it would be on to annual mammograms and MRI’s starting at 30. Negative/normal does not put me in the all-clear and that is why there is heavy monitoring. So let’s follow suit with ‘mutation found’ and, let’s go with ‘no mutation found.’
Back to the voicemail. My results were Negative/Normal. Great news! I am not in the 80%. I am not looking at surgery. I even missed the 20% calculation from family history for annual mammograms and MRIs by 1%. I will continue on course and deal with anything that may come as it does. But a weight is gone and for that, I am so thankful.
Very Inspiring article Katie. There was a time when my aunt also died of BRCA1 mutation and I did a test similar to yours. Breast Cancer came out!! Yup men can get them too!! I got treated luckily at the proper time. Keep blogging.