Doctors, Doctors, and Even More Doctors....

This is always uncomfortable

When I tested positive for a mutation on the BRCA gene, I never imagined I would be seeing so many doctors. There are doctors for every little thing imaginable. Breast surgeons, gynecologic oncologists, genetic counselors, and so many others. I feel as if I'm seeing a different doctor every other week!

It is much better to be prepared and looked at as often as I am than to sit back and wonder if cancer is about to run itself wild within my body. One never knows when something crazy can happen! I guess it is much better to see all these doctors in my case.
Unfortunately, I recently learned that my breast surgeon has left the practice. To say the least, I was very heartbroken to see her go. She really set up a game plan for me and ordered my first MRI. I was comfortable with her and now she's gone.

You should always perform a breast exam on yourself!

So I had an appointment that I didn't cancel to see the NEW breast surgeon in the practice. To say the least, I wasn't very fond of her. She was a bit more aggressive towards me and wanted to put me on Tamoxifen! I am 21 years old! So I looked at her and said a meek no in response. I didn't want to make her mad, and I was also a bit frightened of her. I still cannot believe she even suggested putting me on the medication. It basically takes the estrogen from your body has been shown to help in preventing estrogen-based cancers. There is no guarantee that the cancer I'd receive would be estrogen-based. There is also no guarantee that it will completely help me. What I'm most concerned about is future fertility. She told me it would have no effect on me getting pregnant once I stopped taking the drug, but I definitely could not get pregnant while taking it. And while I don't plan on getting pregnant any time soon, I am very fearful that it will cause problems for me to conceive in the future.

The make up of Tamoxifen

The next thing she did was a breast exam. Now, the doctor's hands were very cold. So she started moving around and feeling me up. I always feel uncomfortable in these situations, but it is life. These doctors have felt my breasts up better than any guy ever has! Haha!
She suddenly stopped and then felt the same spot over and over again. I knew she wasn't happy about something. So she grabbed my hand and asked me to feel the spot. Then she chastised me for not doing it the way she wanted. She also became angry because frightened little me couldn't tell her if I recalled feeling this spot before.
She moved on to my other breast and felt the same thing, so she just told me to keep an eye on it because it was probably nothing.
So, all in all, I am now searching for a new breast surgeon, while anxiously searching my old one to see where she went. I would much prefer to have her back in my life than to be around yet another new doctor. So, Dr. I, if you see this please please please let me know where you are and allow me to be your patient again! From a very concerned BRCA2+ patient who may or may not be having panic attacks because you have disappeared.

You Tested Positive...

February 24, 2014 was a life changing day for me. The day before, my cousin Dale had passed away. I was numb from trying to grasp the concept of him no longer being around, but I also knew that I was about to face a bigger challenge, one that began centuries before I was even born.

No one really knows how most of the BRCA gene mutations came about. Some are easier to guess. Inbreeding. Exposure to chemicals. All I really know is that it runs in my family. And somehow it was my family who had the unfortunate genetics that led to me testing positive for the mutations. My grandmother, Susan, was diagnosed with breast cancer when she was only 29. Three short years later, she unfortunately passed away. Her sister was then diagnosed with breast cancer, her mother, her other sister. It seemed to be like a contagious disease spreading throughout the family. Not many people understood what was happening. Over ten years after my grandmother passed away, the scientific community would discover this hereditary marker that caused the members of my family, and many other families, to suffer through the dreaded disease of cancer. 


It's hard to try and understand what my relatives went through. Did any of them suspect that something was wrong in their gene line? Did they all believe that they'd get cancer one day and accept it as fate? Did they think God was punishing the family? I wonder how many more of my relatives actually had cancer and suffered from this gene. What would they have done if they knew that their bodies were plotting against them? The only way I could ever know is if I went back in time.

I wish I could have warned some of them. I wish I could have comforted my grandmother and let her know that none of this was her fault or anything that she caused. She was just unlucky. I wish I had met her. But cancer stole her from me years before I was ever born.

The BRCA 2 gene is a tumor suppressing gene. It's a protein that is supposed to fight against the tumors and break them down. It repairs damaged DNA and maintains the stability of a cell's genetic information. When the mutation occurs. the proteins do not always notice the damages in DNA and let them pass through without fixing them. This is what can cause the cancer that everyone dreads.

That day in February that I sat in my doctor's office is a day I will never forget. All I wanted was to hear that I was negative. Either the gene had skipped me or my family just had a bad stroke of luck. But when my doctor came into the room: I knew. I knew that I was positive. I knew that my world had just been flipped upside down. And I knew that my boobs were plotting against me. 

I never realized how high my risk was of getting cancer until that day. Up to an 88% chance of breast cancer by the time I turn 70. Up to a 60% of getting ovarian cancer by that same time. Other cancers are seen to be caused by the BRCA gene as well: male breast cancer and prostate cancer. These numbers are constantly changing, though. All the genes are different and it's hard to figure out which gene has a higher chance and which lower. 

Pushed back into reality, I started hearing the words "Preventive mastectomy and hysterectomy." She explained my measures of screening, how I would start much earlier than most women. She told me I had more options, but I was still young. I was 19 when I found out. It has to be one of the scariest things to hear that I'm more than likely going to get cancer but when is a mystery. It's hard knowing that there may be some things I won't ever have the opportunity of experiencing. It's hard knowing that on day, what I consider my normal body will not be. I will have scars reminding me of what once was, but I will never see them again.

The best part of this is that I know. I can do whatever it takes to prevent the cancer from taking over my body. I can get tested earlier and at a higher frequency, uping the chances of finding out and curing it earlier.


So far I am the only member of my family to be tested. And that terrifies me more than anything else. The chances of my cousins, aunts, uncles, having the gene is high and I worry one day they will get cancer and it will be too late. 

Having the gene is something I hope many of my family-and even the population as a whole-never have to experience. It's always in the back of my mind, and it always will be.