Know what you have part 2

**Disclaimer** This post covers sensitive medical and wellness related topics involving breast cancer and preventative reproductive screenings. If you feel uncomfortable discussing or reading about these topics, please skip this post. I won’t be offended because I know you’ll be back! Additionally, I am NOT a medical professional. I am simply a patient and health/wellness blogger giving my opinion on how to be proactive with women’s health issues. Please consult your own physician with any individual medical questions or concerns.

Before you read Part 2, please take a moment to read part 1 of this post: Know you what you have part 1

In October of 2013, I returned to my OB/GYN to have my annual well woman exam. I wasn’t as nervous as the previous year, and knew what to expect as far as having those “tough conversations” go. I did get a bit emotional while the nurse was taking my vitals and updating my records on their new computer system.

Family history:

  • Mother: deceased
  • Maternal grandmother: deceased
  • Paternal grandfather: deceased
  • Paternal grandmother: deceased

Needless to say, seeing it all there, in my face, on that screen was a little tough to handle. And I couldn’t help but get a bit weepy as she pumped the blood pressure cuff around my arm. Four of the seven core people in my immediate family are no longer with us. And even though it’s been a year and a half since my mother’s passing, and almost 10 years since that first death of my maternal grandmother, these losses still shake my soul.

I soon found out that my doctor had just recently lost her mother, and that this was her first day back to work, so it turned out to be much more of an emotional visit than I had anticipated! But, such is life… Even doctors lose their loved ones.

Just like the previous year’s exam, we started with a routine pap smear, vagina/pelvic exam, and breast exam. We talked a bit about nutrition, exercise, and life in general. During the exam she suggested that I follow up with a yearly pelvic sonogram, and urged me to schedule it before I left the office that day. Of course, the worst case scenario goes through your mind in a moment like this, and I immediately asked her if there was something I should be concerned about. She assured me that everything appeared to be ok, but with a history of breast cancer, comes a increased risk of ovarian cancer, and that the sonogram would be another form of surveillance in my prevention plan.

And, like last year, the BRACanalysis conversation came up again. As I knew it would. I hadn’t thought much about it since that initial conversation last year. Not because I didn’t want to do it, but more because I wasn’t prepared for any outstanding costs that may come with it. I had done some research on it after our original conversation, and thought about the possibility of some insurances not covering genetic testing, so I was a bit concerned I may get stuck with a bill I wasn’t prepared to pay for.


My doctor assured me that with my type of insurance, and family history, I would be covered. Before I knew it, I was making an appointment for a preventative sonogram, BRCA consultation, and blood work for genetic testing.

Flash forward a few months and my appointment day was here. On the first day of my winter break from school, I woke up early to head over to my OB/GYN for my procedures.

I have had a pelvic sonogram in the past, so I knew exactly what to expect. The whole point of this exam is to get a better view of what’s going on with your uterus, ovaries and cervix, through a sonogram, which is pretty much exactly like the sonograms used to observe a baby while in the womb. Except, when you’re pregnant, the scan happens through the outside of the mother’s belly. During a pelvic ultrasound, everything is internal. Basically you will remove your clothing from the waist down (don’t worry, you’ll get a blanket for added privacy!), then you’ll sit on a chair much like the one that you sit in for a pap smear. You’ll place your feet into stirrups, again, like a pap, then the technician will dim the lights and insert a transducer into your vagina (which is a roundish, short, tool in which they will cover with a conducting lubricant for easy insertion and movement). Once the transducer is inserted, the technician will use a monitor to measure, evaluate and observe your pelvic area.

This test may include documenting:

  • Size, shape, and position of the uterus and ovaries.
  • Thickness, density, and presence of fluids or masses in the endometrium, myometrium (uterine muscle tissue), fallopian tubes, or in or near the bladder.
  • Length and thickness of the cervix.
  • Changes in bladder shape.
  • Blood flow through pelvic organs.

Now while a this screening will not be able to diagnose specific things like cancer, for example, it can show abnormalities, such as cysts and potentially dangerous changes in the pelvic area, that could lead to more serious issues, making this an extremely important preventative screening.

The entire exam took around 5 minutes, and was painless and easy, aside from the slight pressure you’ll feel from the transducer when inserted. As always, the more relaxed and calm you are, the easier these screenings will go. During the procedure, the technician walked me through what I was seeing on the screen, explaining to me how everything looked A-ok. Of course, all data collected is sent to the doctor for further review, but again, I received a clean bill of health from her once we met after the sonogram.

Once that screening was complete, I went and met up with my doctor to discuss the ins and outs of the BRACanalysis. We sat down for about 20 minutes discussing what BRACanalysis was, a timeline of events, and decisions I may be faced with if, in fact, the genetic testing comes back positive for any genetic mutations I may be carrying that could increase my risk developing cancer.

gfihgfjhgfMost cancer occurs by chance, however, in some families, cancer is more prevalent than just by chance alone. Determining how these trends and patterns relate to genetic mutation is an important tool used in the fight against cancer. Because my mom was diagnosed with a rare and aggressive form of breast cancer, chances of it being genetic are good. Hereditary breast and ovarian cancer syndrome (HBOC) is an inherited condition that causes an increased risk for ovarian, breast, pancreatic, and prostrate cancer due to an alteration or gene mutation in either the BRCA1 or BRCA2 genes, which can be inherited from both a mother or a father. A person may have an inherited risk of developing a HBOC if:

  • You or a family member were diagnosed with breast cancer prior to age 50, or ovarian cancer at any age.
  • You or a family member were diagnosed with 2 breast cancers, or triple negative breast cancer at any age. (this applies to me).
  • There is already information regarding gene mutations in your family.
  • There are three or more HBOC-associated cancers in your family at any age (breast, ovarian, pancreatic, prostrate). (this also applies to me).
  • Your ethnicity is higher risk for genetic mutations.

If a mutation of either BRCA1 or BRCA2 genes is found, the chances of developing cancer increase significantly compared to just developing them by chance. Breast cancer increases from 8% (general population) to up to 87% (gene mutation). Ovarian cancer from less than 1% to up to 44%. Secondary breast cancer from 11% to up to 64%, and pancreatic cancer, less than 1% to 7%. (These statistics reflect the average person by age 70 and are from 2013).

I knew, at that moment, that I would be going through with this test. Once we finished up our consultation, I went a few steps down to the next room and gave a blood sample. The sample will be sent off for analysis and within 3-4 weeks I should receive the results. Because I am the first of my family to participate in genetic testing, there aren’t any known gene mutations to compare my own genes with. Therefore I am participating in what’s called an Integrated BRACAnalysis, which includes a full examination of the most common changes of BRCA1 and BRCA2 genes using the samples collected since the start of this test.

pplplpIf the results come back negative, and I do not carry a gene mutation, then I will continue with regular medical management based on general population cancer screening and personal family history. I will most likely begin breast sonograms once I reach the age of 35, and continue yearly pap smears and pelvic screenings for additional prevention, all the while monitoring my own female health at home through self exams and paying attention to any changes out of the norm.

If the results come back positive, and I do carry a gene mutation in either the BRCA1 or BRCA2 genes, then there are a few routes I can take which involve either increased surveillance, including early mammograms, frequent pap and pelvic screenings (twice a year), and blood tests every 6 months which would test for increased CA-125 levels in the blood (a cancer indicator). Additionally, I can start drug regimens which include, but are not limited to, birth control and tamoxifen, a type of chemo-prevention drug that has been shown to reduce the risk of genetic cancer in high risk women. And then there is the option of preventative surgery, having a double voluntary mastectomy and/or hysterectomy to eliminate almost all of my risk entirely. A mastectomy would also include reconstructive surgery, in which there are many options.

Since BRCA1 and BRCA2 gene mutations may be passed on in a family, if I carry one of these mutations, there is a 50% chance that my parents, future children, siblings, grandparents, aunts, uncles and even cousins have the same mutation. Since testing is the only way to determine if these mutations exist, I will be sharing my own results with my family, giving them the option to use my genes for them to be able to participate in the Single Site BRACAnalysis, if I test positive for a gene mutation.

Now while BRACanalysis will give me more insight into my own personal plan of action when it comes to developing hereditary cancers, it does not detect all causes of hereditary cancer. uhuhThis is a very long, and informative post, but I have failed to address the emotional side to all of this. How do I feel? Am I nervous? What will I do if my test results come back positive?

Honestly, the only moment where I felt nervous or emotional about this is when I was about to have the blood drawn, as I’m not a big fan of needles. I know I need to know. I know how important prevention is. I know that my mother missed 2 years of mammograms and that is why when they didn’t catch it, and why it had already developed into stage IV. I know that’s why she died. And if going through test after test, scan after scan, is going to prevent me from going through even 1 DAY of what my mother endured, then it’s worth it.

To me, knowing is not scary. Knowing gives me power to choose my destiny; to mold my future and my fate. Knowing gives me the tools to fight. Knowing is what will keep me on this earth far past the age of 57. Knowing will ensure I get to know my grandchildren. Knowing means life.

Since the day my mother took her last breath on April 11, 2012, I have done everything in my power to bring breast cancer prevention awareness to anyone who will listen. Don’t wait. Don’t put your health on the back burner.

Your health is important. You are important.

Update: I tested negative!

Steph <3