Posts Tagged ‘BRCA Gene’

Li-Fra-What?

August 5, 2014

IMG_2502LBBC guest blogger Kate Crawford’s family was no stranger to cancer of all types, but after she was diagnosed at the age of 28 with HER2 + metastatic breast cancer the family started to wonder if genetics were to blame and urged her to undergo genetic testing. Today she shares her story on making the decision to have genetic testing and how that affected her and her family, including her young children. 

I was 28. I had no family history of breast cancer, but had a family history of cancer in general. My mother was diagnosed with thyroid cancer at 27, my grandmother died as a result of an incurable brain tumor and my grandfather had pancreatic cancer. One thing everyone pondered when I was diagnosed was: why? Why would an overall healthy young woman present with metastatic breast cancer? It is an extremely personal decision to have genetic testing. More than half of gene mutations are hereditary which means a diagnosis of an abnormality may mean your mother, sister, niece, cousin or your child could also be at risk.
I was worried about my children and decided to meet with the oncology genetic counselor in early 2013. It was one of the most informative meetings I had concerning my diagnosis. She explained to me how genetics play a role in cancer. Genes are fragments inside of cells, which are in chromosomes, and made of DNA. DNA contains the instructions for building proteins, which controls the how the cells make up your body. If there is a mistake in one of your genes, those cells will not grow and function properly which can lead to genetic abnormalities, like being more prone to develop certain cancers. She suggested that I be tested for the popular BRCA 1 & 2 gene mutations. A simple blood test and a little bit of waiting revealed that I was negative for a BRCA abnormality. “I would like to have you tested for one more thing.” she quietly stated, “Li-Fraumeni Syndrome”. “Li-Fra-what?” I asked. (more…)

Fearless Love or Brave and Crazy

July 15, 2013

PhotoLong time LBBC blog contributor, Randi Rentz, shares her take on the latest news surrounding Angelina Jolie’s decision to have a double mastectomy after testing positive for the BRCA gene. 

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We all know that Angelina Jolie’s double mastectomy has put genetic testing in the spotlight. In fact, no one will ever do for women diagnosed with the BRCA gene what Angelina Jolie did by openly talking about her decision to have a double mastectomy. And the decision to lose both breasts is not an easy one.

 

The question is; if you were Angelina Jolie would you have made this decision and made it this public? In truth she had no reason to discuss this procedure and could have kept it to herself never alerting anyone to the surgical changes to her body. For her the toughest decision might not have been deciding on the surgery, but choosing to share the information since her fame and fortune depend on her physical properties. After all, she is no doubt one of the most famous women in the world if not the most beautiful.

 

Did she make her decision because she was brave or was it out of fear? Well, if you ask Melissa Etheridge, a breast cancer survivor and rockin’ singer, she would probably say it was out of fear. Say what?! Whoa. Those are fightin’ words. I don’t think Brad Pitt is very happy about that.

 

I guess when you mess with Angelina; you mess with Brad, too. While I don’t know why anyone would ever want to mess with Brad Pitt outside the bedroom, apparently Melissa Etheridge is taking on the celeb couple.

 

Melissa Etheridge believes that cancer comes from inside you and so much of it has to do with the environment of your body. She feels it’s the stress that will turn that gene on or not. Ok, so that’s Melissa’s belief.

 

Hmmm. I get what Melissa is saying, and she is certainly entitled to her own opinion, but I have to say, I applaud Angelina’s decision and discussion.

 

No one ever wants to go under the knife.  At the end of the day, people make different choices and go down different paths, and the one that Angelina chose is different from Melissa’s. I’m sorry, Meliss, but I don’t think that warrants criticism over one decision or the other.

 

I am sorry that Melissa went through breast cancer, and I’m sorry that Angelina had to deal with this horrific disease as well, but to Angelina Jolie I say thank you! My guess is that women all over America who know they carry the BRCA gene or suspect they should get tested are reviewing their options or bringing this issue out to reexamine it-all because Angelina Jolie is talking about it. I have not been a big fan of Angelina, but I’m pretty impressed with her now.

 

Do you see where Melissa Etheridge is coming from? Do you think she was out of line to criticize Angelina’s decision?

 

Randi Rentz, graduated with honors from The Johns Hopkins University with a Masters degree in Special Education. She was an editorial assistant for a publishing company in suburban Washington, DC before becoming a special education teacher in a school district outside Philadelphia, PA. Randi currently is an Asperger’s Support Teacher for grades kindergarten through fifth. Presently, Randi has her own consulting company for children on the Autistic Spectrum where you can see her work at   www.helpforaspergers.com. She is a proud member, supporter, and blogger for many breast cancer organizations and never leaves the house without diamonds. Visit Randi at her web site at www.randirentz.com. Be sure to check out the teaser for her upcoming book “Why Buy a Wig…When You Can Buy Diamonds!”


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