All in the Family

I fell and broke my ankle about one and a half years ago. Around that time I also had a mole removed which came back as melanoma. I had surgical removal of the melanoma since there was no spread of that cancer. Then I was diagnosed with breast cancer Spring of 2016. I was a very lucky person as that cancer had not spread to the lymph nodes so it was considered Stage 1. 

Our family history is high for breast cancer.  In June of 2016 I did some online research and found a report that said there was a connection between melanoma and breast cancer.   Previously I wasn’t sure I wanted to have genetic testing done because of concerns about not being able to purchase life insurance. I didn’t want it to be part of my medical records.

[For more information about hereditary types of cancer risk visit here .]

Once I was diagnosed with breast cancer I felt I could go forward with genetic testing since that diagnosis was in my medical records anyway. I got in contact with my sister who had learned as part of a research study that she had a BRCA gene mutation. I asked her what specific gene mutation they had found in her. Then I could have testing specifically for that gene. I saw a genetic counselor and was offered genetic testing. I went forward with testing. I had specific testing done June 2016 after the breast cancer diagnosis. I found that I do carry the gene.

[To learn more about Genetic Testing for Hereditary Cancer Syndromes visit here .  Genetic information provides a means of identifying people who have an increased risk of cancer. Sources of genetic information include biologic samples of DNA, information derived from a person’s family history of disease, findings from physical examinations, and medical records.]

Both my father and mother died of cancer. My dad died at age 85 of prostate cancer. My mom had bile duct cancer at age 73. Her sister died at 40 of suicide. There was a question about whether she had uterine cancer.  My sister had breast cancer at age 48.

[Cancer Risk Assessment & Counseling: Individuals are considered to be candidates for cancer risk assessment if they have a personal and/or family history (on the maternal or paternal side) or clinical characteristics with features suggestive of hereditary cancer. Genetic education and counseling allows individuals to consider the various medical uncertainties, diagnosis, or medical management options based on varied test results; and the risks, benefits, and limitations of genetic testing.]

Knowing this information has made a difference for others. They have considered testing and earlier screening (i.e., mammography). Others in the family have also been tested and several have been found to be BRCA2 positive, including one of my nephews and a niece who has subsequently been diagnosed with very early stage breast cancer at age 42. Another niece had a melanoma removed from her back at age 39 but was negative for the BRCA mutation. 

My brother has four children. They were encouraged to have testing. Two tested positive. My brother’s son tested positive. His son opted not to do anything. His daughter that tested positive is the one who had the recent (2017) cancer and subsequently had a double mastectomy.

[Family communication about genetic testing for cancer susceptibility, and specifically about the results of BRCA1/BRCA2 genetic testing, is complex.  Being the one for sharing news about an increased risk of disease can be emotional and difficult.  Not everyone is interested in knowing genetic test results-it's a very personal decision.]

The healthcare providers were important in sharing information with me. When I first went through testing I was scared to death about the high percentage of breast cancer recurrence. So I was considering a double mastectomy. After discussion with the whole team, I decided that was not the best decision for me. Genetics was a part of the decision process. I wanted all the information I could get. With the surgeon’s guidance I decided to have a lumpectomy. The recovery time was quicker and then I got radiation. My daughter-in-law was concerned that because of this decision I might be more open to cancer. But this was the best decision for me. My sister has not had a recurrence after 25 years.

Because I know that the gene mutation puts me at increased risk for ovarian cancer I am planning to get them out next year. I had a hysterectomy at age 43 for huge fibroids but I didn’t want to take hormones, and the ovaries were left. 

I like to have information that I need to know.  I look up details. When I look at options, I consider insurance, and use of technology. Many years ago we were contacted by Johns Hopkins and asked for information as part of a research study because our mother’s cousin died of a rare cancer. My mother was of German lineage and they wanted to study our family genetics. I didn’t ask for follow-up from that study as I didn’t want to know the results.

I had the opportunity to have a six month follow-up visit with the genetic counselor but I wasn’t sure why I would want to do that. I’m not sure there would be any additional value for me as I am already being monitored every six months including screening, yearly MRI, and seeing the chemo doc two times a year. It wasn’t for any particular study so I decided to let it go.

In summary I think it is possible to have better informed decisions with genetics.

Don’t presume.

Make up your own mind.

Find out as much as you can. Become informed at the time.

Be comfortable with your decision.

May become peaceful, so relieved.

Don’t let it consume you.