Mutant.

Hello again friends, we are currently on cycle 1 day 6 and today has been a bit better than yesterday. Yesterday was my first day without steroids on board and the lack of energy was definitely noticeable. It also didn't help that it was a gloomy, rainy day all day either. I found myself feeling a little down both physically and mentally but today has been a better day so far. Still staying up on the anti-nausea meds. Between those and all of the prayers we are receiving on a daily basis, I am feeling pretty good considering. I would be lying if I said I was looking forward to my next 3 infusions but for now, we need to take one tiny baby step at a time,

I thought I would take an opportunity in today's post to explain how we got to where we are today, not in the "first mommies and daddies love each other very much" kind of way, but more in the "I have a genetic mutation that gives me cancer" kind of way.

So let's jump in shall we??

For those of you that don't know me well, my dad passed away in 2013 after an 8 month battle with pancreatic cancer. It was fast and fierce and ugly and heart wrenching. We found out he had cancer on the day I was due with Kate (she wouldn't come until 5 days later, already stubborn, even as a fetus) and he was gone before her first birthday. Cancer really sucks.

Kate, Dad and Patti

Fast forward to almost a year later and I was seeing my NP for my annual exam/initial OB appointment (I was early pregnant with Evelyn). Kim was going through my family history and mentioned that I would be a candidate for genetic testing because of the cancer on my dad's side of the family. Knowing I was just beginning another pregnancy (and continued to associate Kate's pregnancy with dad getting sick), I wasn't emotionally ready to do the testing. We agreed there was no rush and I could get it done after the baby was born.

Life with two little ones is pretty hectic so it wasn't until December that I got my butt to the office and blood drawn for the test. I knew the implications of the test going in, I could have a positive result and be at a higher risk for cancer. Or I could have a negative result and still be at a higher risk for cancer because of my family history. What did I have to lose?

We made it through the holidays and most of January had come and gone before my test results were in. Mitch and I met with Kim in the office and she gave us the unfortunate news,  my genes are mutated. Not like in the Ninja Turtle sense (although I am fond of pizza) but in the "you just signed up for an increased risk of 4 different cancers sense". Well Damn.

So, what does having a BRCA2 gene mutation really mean? Let me try to explain.

We all have a unique set of genes that determine who we are and what we look like. These genes come equally from our parents, a 50/50 split. Sometimes genes are broken (mutated) from the beginning (passed on from mom or dad, thanks guys!) or sometimes they break due to environmental factors (sun exposure = mutated genes = skin cancer)

Everyone has a BRCA1 and BRCA2 gene responsible for keeping certain cells in our body dividing at a normal rate. It's like a quality control system, if the cells get out of control, BRCA1/2 shut down the party. The problem becomes when one of those genes are broken, no one calls the cops and cells can grow out of control and become cancer. This gene is not only associated with breast cancer, but also ovarian, pancreatic, prostate and melanoma cancers. My BRCA1 is normal, my BRCA2 is not.

Prior to me discovering I already had cancer, my statistics looked a little something like this:

Average women’s risk of cancer in her lifetime:

Breast: 1 in 8 (12%)

Ovarian: 1 in 70 (1.4%)

Pancreatic: 1 in 100 (1%)

Melanoma: <1 in 100 

My risk of cancer in my lifetime (with a gene mutation):

Breast: 80%

Ovarian: 45%

Pancreatic: 7-25%**

Melanoma: increased risk

**risk varies depending on family history, I haven't been told my specific risk just yet.

As you can see, every woman has a chance of getting breast cancer in her lifetime and the number of women with cancers related to genetic mutations is rather small when looking at the total population. However, because I am one exceptional human being, I decided to get cancer right away and avoid the waiting game (insert sarcasm).

When we were told about my BRCA2 status, the plan was to nurse Evelyn until she was a year old (June 29), get a diagnostic mammogram in July as a baseline, meet with a breast surgeon and plastic surgeon in August and then proceed with a prophylactic mastectomy in September. Even before I knew I had cancer, I was ready to say good bye to the ticking time bombs on my chest. Unfortunately (or maybe fortunately) for me, they got to me first. 

There are a couple things I want to mention very clearly in this post. Kim saved my life by encouraging me to be tested. Not in the superfluous way, but in the very literal sense of the word. If I would not have been tested, I wouldn't have known I was positive. Because I was positive, I qualified to have a mammogram far earlier than a "normal" woman would. Because I had this mammogram, we discovered my cancer very early and proceeded with treatment 3 weeks later. BRCA2 saved my life.

That being said, having this mutation is rather rare, so I don't want to freak you all out into thinking you have it because your grandma's neighbors cousin had cancer in her 30s. Taken straight from cancer.gov, here are indications to consider testing:

Because harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the person’s individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2.

In December 2013, the United States Preventive Services Task Force recommended that women who have family members with breast, ovarian, fallopian tube, or peritoneal cancer be evaluated to see if they have a family history that is associated with an increased risk of a harmful mutation in one of these genes (17).

Several screening tools are now available to help health care providers with this evaluation (17). These tools assess family history factors that are associated with an increased likelihood of having a harmful mutation inBRCA1 or BRCA2, including:

• Breast cancer diagnosed before age 50 years
• Cancer in both breasts in the same woman
• Both breast and ovarian cancers in either the same woman or the same family
• Multiple breast cancers
• Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
• Cases of male breast cancer
• Ashkenazi Jewish ethnicity

Or in my case, a family history of breast cancer diagnosed before 50, pancreatic cancer and prostate cancer all on one side of the family. Now that I know I am BRCA2 mutated, I can pretty confidently deduce that Dad was as well.

The second complicated piece to this puzzle involve Kate and Evelyn. Because this mutation is passed down from parent to child, our girls have a 50/50 shot of carrying it as well. Right now, there is nothing in the literature recommending young girls to be tested before the age of 18 when they can fully understand and comprehend what a positive result might mean for them. I fully intend on educating both of them about my cancer and my genetics as they grow older, but the decision to be tested will be entirely up to them. There is also an optimistic part of me that thinks treatment/screening options 20 years from now could mean a completely different outcome for them compared to me. One can only hope...

This post is beginning to border a novel so I am going to cut it here, but if any of you dear readers have questions about BRCA or my story in general, I am an open book and more than happy to answer any question you might have! Just put it in the comments below.

Now its time for a nap!