BRCA2 and Henrietta Lacks

So, I've had some time to process my BRCA2 positive test result.  I had somehow convinced myself the tests would come back negative despite the fact my mother has had cancer twice and my grandparents on my father's side had breast cancer and prostate cancer.

I received a packet of information from the Myriad Genetic Laboratories, via the Cancer Center, on Thursday, September 15, 2011.  It says, "the results of this analysis are consistent with the germline BRCA2 frameshift mutation 4075delGT, resulting in a stop codon at amino acid position 1284 of the BRCA2 protein."  It also says,  "deleterious mutations in BRCA2 may confer as much as an 84% risk of breast cancer and a 27% risk of ovarian cancer by age 70."

Well, I've become part of the 84% statistic already.  I've decided I will have my ovaries removed and will not become a statistic for ovarian cancer.  I will likely also have a bi-lateral mastectomy to reduce my chances of getting breast cancer again.  The information indicates a cancer risk reduction of 90% with a mastectomy and 96% for oophorectomy (removal of ovaries).

As I mentioned in previous posts, it increases my risk of other cancers as well.  The information says, "some families also have an increased risk of pancreatic tumors and melanoma.  Consider full body skin exam for melanoma and investigational protocols for pancreatic cancer."  This is something I will also speak to the oncologist about on Tuesday.

I am currently reading, The Immortal Life of Henrietta Lacks, by Rebecca Skloot.  (Thanks to my friend, Destiny, it is an awesome book.)  The cover of the books puts it simply, "Doctors took her cells without asking. Those cells never died. They launched a medical revolution and a multimillion-dollar industry.  More than twenty year later, her children found out.  Their lives would never be the same."

Henrietta was diagnosed with cervical cancer in 1951.  And, without knowing, they took healthy and cancerous tissue slices from her cervix.  For years, researchers had been trying to grow cell cultures in laboratories.  Henrietta's cancerous cells grew - and grew and grew.  The book says there is no way to know with accuracy how many of the "HeLa" cells have been grown, but they estimate they would weigh more than 50 million tons.  It's incredible.  I'm amused by it because her cells have been instrumental in cancer research. The book says they assisted in developing chemotherapy drugs like Taxol, which I will begin receiving in about 16 days.  Thank you, Henrietta.

The book also says, (the cells) "helped to developed drugs for treating herpes, leukemia, influenza, hemophilia, and Parkinson's disease; and they've been used to study lactose digestion, sexually transmitted diseases, appendicitis, human longevity, mosquito mating...Henrietta's cells have become the standard laboratory workhorse."  Amazing, right?!

Disturbingly, her family knew nothing of how her cells were being used for quite some time.  Millions of dollars were being made with her cells and her family received no compensation.  Skloot addresses other unethical studies performed on humans such as the Tuskegee syphilis study and the research performed by seven Nazi doctors on Jewish people, both studies done without the consent of the individuals, which brings back fond memories of my medial ethics class.

I may tuck myself into bed early this evening and try finish the book.  It's extremely sad and fascinating at the same time.  I look forward to learning more about her family and whether they were ever given any financial compensation, and what other studies were done with her cells.  Oh, I forgot to mention her cells were sent into space with astronauts to see how zero gravity would impact cellular growth.

Changing subjects - I walked up City Creek for the second time since I started chemo this afternoon.  Olivia and I designated today as "lazy day," but I just really wanted to get out and enjoy the cooler temperatures and a little sun.  I donned one of my favorite new pink shirts, shorts, and shoes.  No hat today.  I was only able to walk uphill 11 minutes.  A far cry from last year when I hiked 6 miles up to the top of Kinport Peak.  Argh.  It's okay.  I took my time and listened to the birds, watched my beloved dragonflies zipping around, and inhaled the clean breeze which had a hint of fall in it.

Unfortunately, I'm still being afflicted by extremely painful back spasms.  As I mentioned after my first chemotherapy session, I talked with the oncologist about it and I underwent an MRI to make sure cancer had not spread to my back.  Luckily, no cancer was found.  But, on day 10 after chemotherapy, without fail, the back spasms return.  It is hard to describe.  It doesn't seem to be affecting my musculature.  It seems as if I have contractions in my spine.  I feel a pulsating pain from my hips to the back of my head that lasts for a minute or two.  It take my breath away.  I'm reluctant to tell the oncologist about it on Tuesday, because I DO NOT want them to reduce my chemotherapy drugs further, but it is equally concerning and painful enough that I'm going to have to bring it up once again.

Hey, I did have a great achievement this week.  I was asked by a colleague to tape a session on our local television station about Breast Cancer Awareness Month.  October is the 25th anniversary of National Breast Cancer Month.  I was more than happy to.  Because the PMC Cancer Center staff is so integral to my care, I asked that someone accompany us on the panel.  Jennifer Robinson, PA, accompanied us.  We talked about breast cancer prevention, screening, forms of breast cancer, my journey and the Women's Health Check program, which screens women with low income for breast and cervical cancer.  The show will be aired twice a week during the month of October.   I will forever be an advocate for breast cancer awareness and was honored to be asked to tape the show!

So, now, to enjoy the next two days to the fullest. Tuesday is chemo.  My fourth and last session of Adriamycin and Cytoxan.  Each treatment has made my side effects worse, so I'm anxious about it.  I continually remind myself the drugs are killing the cancer cells.  My body will become healthy again!

Happy Autumn, everyone!

Genetic Test Results Received

What a difference a day makes.

I posted last night about working a full day.  It really took a toll on me today.  Because I compare my cancer journey to a marathon, I had to come to terms with "pacing" myself better.  I've hit my head against this wall several times now.  I think I've finally learned the lesson.  I left work at noon and took a nap.  Then, I resumed some work from home.

During the afternoon I received a call from the Cancer Center.  My genetic tests were back and I tested positive for the BRCA2 genetic mutation.  I am shocked.  I had convinced myself because the original tumor cells were not breast cancer cells the genetic tests would be negative.  The nurse said I could come in to discuss the results with the oncologist or wait until my chemotherapy session next week.  I said that I would research it on my own and develop my list of questions for the appointment.  She said that's what they figured I would do.  They are awesome and know me well already.

Yes, I've done some research on it.  It has significant implications to be BRCA2 positive.  Women are at an 80% risk of getting breast cancer if they are BRCA2 positive. Well, I already have breast cancer so I fall within that statistic now.  The other implications are a much higher risk getting breast cancer in the other breast, ovarian cancer, and several other types of cancer.

According to the National Institutes of Health, men and women can test positive for BRCA2. their site says, "In addition to female breast cancer, mutations in one copy of the BRCA2 gene can lead to an increased risk of ovarian cancer, prostate cancer, pancreatic cancer, fallopian tube cancer, male breast cancer, and an aggressive form of skin cancer called melanoma. Mutations in the central part of the gene have been associated with a higher risk of ovarian cancer and a lower risk of prostate cancer than mutations in other parts of the gene."  Not very uplifting news.  


Many women that test positive for the BRCA2 genetic mutations opt for bi-lateral mastectomy and removal of their ovaries (oophorectomy).  I will discuss this further with the oncologist on Tuesday.  They indicated in an earlier appointment if the test came back positive I could go to the University of Utah to meet with genetic counselors.  Then I will have to make a final decision as to taking the surgical route to reduce my risk of getting cancer again.  I'm already leaning in this direction.  The decision can wait until after I'm done with chemotherapy and radiation.

The other upsetting factor that plays into this news is that there is a 50% chance my children and sister could have this genetic mutation.  We will look at that when the time is right.  Let's just keep funding cancer research and hope for additional success in screening and treatment - and A CURE so my children don't have to go through what I am now.

It's a lot to take in.  It's hard to not be upset after receiving this news.  I'll just let it sink in and educate myself about my options.