Archives for posts with tag: BRCA 1 and 2

I did a saliva DNA test for my ancestry through Ancestry.com about a year ago. My husband was a bit surprised, “Now you’re DNA is out there.” I replied, “My DNA is everywhere. It has not been private for a long time.”

In 2012, I was diagnosed with breast cancer. I underwent BRCA 1 and 2 DNA testing. The test results suggested no mutation of either gene. Mutations are associated with increased risk of breast cancer, ovarian cancer, and prostate cancer.

In 2017, I had two heart attacks within 8 days, due to Spontaneous Coronary Artery Dissection (SCAD). I provided a blood sample to the Mayo Clinic, as part of their DNA registry to identify genetic contributions to SCAD. A few months later, I had some more genetic testing done through a local cardiologist. I found that I have a genetic marker for elevated cardiac risk.

In my situation and with my personality, I prefer to gather information, if there’s not physical risk associated with it. But this is not for everyone. This is why there are genetics counselors, to help us make informed decisions about whether testing is the thing to do and to help us understand the results when we do it.

There are two times that I have refused DNA testing and it has been on behalf of other people. The first was when I was pregnant with Zoey. I opted not to have amniocentesis after a blood screen indicated increased risk for Down’s Syndrome. After looking at the testing properties of the screen, talking with a genetics counselor, and meeting with a neonatal specialist, John and I agreed that the risk of Down’s Syndrome was really low (the screen had a really high false positive rate), not high enough to risk miscarriage through the amniocentesis procedure.

When my dad was diagnosed with stage IV prostate cancer in March of this year, there was a referral for genetic testing. Mom and I agreed that this was not top priority at the time.  Then my dad got an emailed referral once again about a month before he died. I handled Dad’s email correspondence.

Dad had so many medical appointments. He had dementia. He was fully physically disabled, needing two staff members at the nursing home, to move him. (He would later only need one person and that’s what allowed him to be discharged and die at home, as he wished.)

Genetic testing? Really? Since when is it surprising for an 85 year-old man to have advanced prostate cancer?

However, I don’t know the answers to all questions. I am not an oncologist. I contacted the genetics clinic and asked whether it was really important that Dad have the testing done, given his advanced age and limited quality of life. I was told that the referral had been made “due to family history of certain cancers.”

It was now clear to me that it was my history of breast cancer that led to the referral. I wrote back to the PA, explained that I’d had BRCA 1 and 2 testing, was negative, but that my testing had been done in 2012. I asked if she could tell me the testing protocol so that I could get the testing done instead of my dad. She very kindly forwarded my question to one of the physicians, who told me that she agreed that testing wasn’t a great idea for Dad and suggested that I ask my oncologist for what testing to get done.

I haven’t gotten around to the testing yet. I just sent my oncologist an email, asking for her opinion.

The Information Age puts us in the position of finding the sweet spot between too much and too little.

 

 

 

 

I have concerns about Angelina Jolie’s lifestyle and I still respect her healthcare decision.

I acknowledge the possibility that she made her announcement because she loves attention and I still respect her healthcare decision.

I have researched the problem of over-treatment of breast cancer and I still respect her healthcare decision.

I know that hospitals have money-making as well as helping people goals and I still respect her healthcare decision.

I disagree with the priorities and politics of the Komen Foundation and I still respect her healthcare decision.

I believe that the obsession with Angelina Jolie’s youth and beauty is detrimental to girls and I still respect her healthcare decision.

I am angry with Myriad Labs for patenting genes and I still respect her healthcare decision.

I could go on and on but I will end with this. I have been planning to write a post describing my decision to have a right-side rather than a bilateral mastectomy. I know the title of the post and I already have my research references lined up.

Why haven’t I written it?

I haven’t written it because I don’t want to invite feedback that is not respectful of my personal healthcare decision. And even more importantly, I do not want to unintentionally give any of the breast cancer people out there the message that I am questioning your personal healthcare decisions because mine were different than yours.

We are all people and all individuals. We can make different decisions and still respect each other. It doesn’t matter whether we are in the “pink crowd” or not.  Breast cancer prevention and treatment options are still gray. I made my treatment choices. Time will tell whether I made the right decisions but to me, they seemed the best decisions I could make based on the information that was available at the time. We are individuals, we have brains, and we have the right to make decisions that we believe are best for us.

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George Lakoff

George Lakoff has retired as Distinguished Professor of Cognitive Science and Linguistics at the University of California at Berkeley. He is now Director of the Center for the Neural Mind & Society (cnms.berkeley.edu).

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