Wednesday, December 1, 2010

Hello Gene!

If you are not familiar with the BRCA 1 and 2 gene, let me educate you. These human genes, when mutated, are linked to breast and ovarian cancer. Harmful mutations in the BReast CAncer 1 and 2 genes can be found via a simple blood test but it is quite expensive (about $3500) if not covered by insurance. The gene can be found in those with a family history of breast or ovarian cancer and those of European Jewish background. The risk factor of those with the gene is five times more likely to have cancer than those without the gene.
I was introduced to this gene (Hello gene) while living in the SF Bay area through my health care provider- Kaiser Permanente. If you opted to have the test taken, a mandatory two hour class explaining the gene and also what you need to think about if you found the gene was necessary before you opted to pay for the test. I attended the class and I found that, in my case, the test would not have been applicable since my "control" (my mother) was not alive to test to see if she had the gene. It is better to test someone with breast cancer first so that it would be easier to locate the gene in the next generation. I opted to not spend the money.
A year and a half later, circumstances have now changed since LCIS was discovered in my right breast. I decided to meet with a genetic counselor from Penn Hospital. Let me say, at this point that, damn, I am lucky to be in such an amazing city with so many teaching hospitals. For as much as I made fun of Philadelphia for the past year and a half, I have to say the medical facilities are top notch. Not only was Pennsylvania Hospital our nation's first hospital (1751) but University of Pennsylvania took it over in 1997 which elevated their resources and staff to a new level of care. I chose it not only because I can walk to the hospital but also because it was ranked so high.
I was given a very extensive survey to complete before I met with the genetic counselor and an oncologist to take the test. When I mean extensive, I am not kidding around! My mom was an only child and my dad has one sister, who ironically has battled breast cancer in her 70's and now is battling lung cancer. Since I forgot a lot of my history, I contacted my aunt and she helped me fill out the paperwork in terms of who died of what and when. Both she and my cousin have incredible memories! Goodness, I can't even tell you what I ate yesterday and they knew the months and year of when my mother's father died. He wasn't even on their side of the family! Another positive outcome from this was that I was able to ask my aunt questions about her own personal battle with breast cancer. She and I have different opinions but it was so interesting to listen to her thought process and how she managed to deal with everything. She also put me in touch with a friend of a distant relative who went through a double reconstructive mastectomy for me to interview at a later date. (future post)
The day finally came and I was ready to meet with the counselor to take the test. She had the paperwork beforehand and she drew up a chart and calculated the probability of me having the gene. In a previous post, I've listed all the factors that have me in an elevated risk category but LCIS is still not considered "cancer" when compiling the information for this gene test. Therefore, it was determined that I would have a less than 5% chance of having this mutated gene and it was suggested that I do not spend the money to take the test. I liked their honesty. Since it would have been another factor to help me to determine whether or not I should proceed with the preventative mastectomy, I was no worse off by not taking the test. I chose instead to go on a 5-day vacation to San Diego and Ojai, California.
What I did get out of this meeting, however, was the chance to pick a completely different oncologist's brain to get his opinion on what to do in my case. Once again, he seemed to embrace the idea of a preventative mastectomy (in my case) based on my risk factors, good health and attitude about the surgery.

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