mackenzie walking unbalance with brca mutant text
I can call myself one, because I am one. That’s how it works right?

So…BRCA. BReast CAncer. Yes they got really creative on this one guys. If you’ve been following along the past few months you’ve seen this acronym coming from my social channels an awful lot. You all know I am BRCA1 Positive, and that I am taking measures to prevent and lower my risk of cancer due to this positive genetic testing result. However, I’m not sure I did a great job of explaining the gene itself or testing procedure early on. So here goes..

BRCA 1 + BRCA 2 Genetic Mutations

BRCA1 and BRCA2 are genes that produce tumor suppressor proteins. These proteins normally help repair damaged DNA, however if either of these genes are mutated then they lack the ability to keep cell stability and can lead to greater risk of tumor growth. While these two genetic mutations primarily mean a great risk of breast and ovarian cancer it can also mean risk of other cancers. Everyone has BRCA1 and BRCA2 genes, but only a small percentage of the population have mutations.

Hereditary + Familial Cancer

As these are gene mutations, it seems obvious to note that this means it’s hereditary. As genes are passed down from both your mother and father, if one of them had a BRCA mutation then there is a 50% chance that they pass that mutation along. If you look at your family and see an ongoing pattern of breast or ovarian cancer throughout the generations there is a chance that it is BRCA related and I strongly urge you to talk to your doctor about testing.

My mother was never specifically tested for the gene, but her Aunt had breast cancer. My mother has only one sibling, my Nana (my Mom’s Mom) only had one sibling, and beyond that I don’t have a medical history. So out of the 2 generations, 4 people in total, 2 of those people had breast cancer. That 50% was all I needed to know. I will come back to this.

Positive BRCA1 + BRCA2 Gene Mutations

It’s not so positive.

This is where I bring the big guns in. The statistics you’ll read below are from The National Cancer Institute, and I have found that their numbers match with other credible sources, a few of which I’ll link at the end of the post.

Breast cancer: About 12 percent of women in the general population will develop breast cancer sometime during their lives (4). By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years (5, 6). The National Cancer Institute

As I’ve mostly focused on breast cancer in my previous blogs, it is also important to note these risks and percentages related to ovarian cancer as well. I haven’t dove too deep into this side of things, nor disclosed it to many. But it is important to note that there are decisions to be made, screening influxes, and future surgeries on this side of things as well.

Ovarian cancer: About 1.3 percent of women in the general population will develop ovarian cancer sometime during their lives (4). By contrast, according to the most recent estimates, 39 percent of women who inherit a harmful BRCA1 mutation (5, 6) and 11 to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70 years (5, 6).The National Cancer Institute
Genetic Testing

There are simple blood and saliva tests that can be done to specifically test the BRCA genes, as well as tests that can look at a multitude of genes. It is recommended that you meet with a Genetic Counselor before going through with testing, so that they can give you the information that is needed to prepare for a positive result. As well as go over your medical history and recommend the best genetic testing option for you.

I had a simple blood draw test and had the results within 2 weeks. Go me!

My Experience with this BRCA Craziness

The first step is to educate. BRCA was something that was brought up occasionally over the 5 years that my Mother was fighting her cancer. It was brushed over by many and at the time didn’t feel like it was something I should seriously consider. There was only one occasion while my Mother was still alive that we argued about the test. Perhaps I pushed so hard against it because no one gave me the feeling that this was something I should really have done. Mostly, I didn’t want it because I didn’t want my Mother to have to deal with the results while fighting her own fight. I regret nothing, I was right, she didn’t need to know these results.

I look back and I don’t think it was me being honorable and strong, as much as it was the lack of urgency from the doctors. Seriously, it’d been mentioned in passive conversation. Shortly before my Mother’s passing, I started to do my own research on it and realized the importance that is genetic testing.

After she passed, I brushed it aside for awhile, avoiding the topic at hand. Then a few months before the year anniversary of her passing I decided to go for it. I went to my gynecologist and started asking questions. She didn’t have much to say. She didn’t really say anything helpful at all. She said I only have 2 women in my life who’d been affected by breast cancer and that wouldn’t be enough for insurance to cover. I left confused and disappointed.

I found a breast specialist in Philly and decided to give them a call myself. I was greeted with another disappointing conversation, as if I was a WebMD-er and hypochondriac who managed to convince myself I had this gene mutation. I didn’t have enough strength to fight this process at the time and I let it go.

A year later we got to Pensacola and I had the Navy Hospital at my disposal. Not having to search for doctors and phone numbers definitely took the stress out of it. I was assigned a general practitioner who would be my referral process and surely my way to this test.

I went in and had the same experience. She didn’t think I’d have enough background to get this passed through insurance, but she’d pass me along to the breast specialist anyways (thank god for laziness, she just didn’t want to deal with it). So this time, this time I showed up with all the printed out charts and forms from Tricare and my Mother’s medical history and plopped down in front of that specialist and said…

“My Mother had Triple Negative Breast Cancer, she fought it for 5 years with about 6-8 months of what they call remission (which to me isn’t a thing anyways) and she passed away from it. She is 1 out of 2 siblings, so that is 50% in that generation. Her Aunt had breast cancer and she is 1 out of 2 siblings in her generation, so that is 50%. This Tricare chart shows that I am eligible and they will cover the test because my Mother had Triple Negative Breast Cancer before the age of 65 and she, an immediate family member, passed away from breast cancer. If that is not enough, this box checks that I have multiple relatives with breast cancer on one side of my family. I don’t care what I have to do next or how much I have to pay out of pocket, I just need you to give me that referral so that an Oncologist will do this genetic testing.”

Okay, so one can’t be sure that I said all of that exactly, but it was my spiel and the specialist and doctor just kind of stared at me wide eyed and gave me the referral.

More to Come

This is where this post stops. I will be sure to go on and give you the rest of my testing experience, because there are certain protocols that are supposed to happen throughout this journey. I had an abnormal experience and the most I can take from it is to pass it along and educate others so they don’t get walked all over like I then did.

BUT, my point here is to KEEP PUSHING. I wish I had an answer as to why it was so damn hard to get a doctor to refer me to this testing. I wish I had answers as to why I was treated so poorly when I was being my own advocate.

Don’t doctors want us to take care of ourselves? To educate ourselves? At some point there, it wasn’t about the health insurance. I didn’t care if I’d have to pay out of pocket. I wanted to get the damn test because I deserve to know my risks and I deserve the opportunity to preventative care. So do you!

That Oncologist that gave me my test results, when he told me it “was really good that you got this test done afterall” I wanted to slap that fake, smug, half-assed, sympathetic look on his face right off it! (Again, another post, another day).

I’m not sure why this is a fight, or what kind of fight this is, but I’m ready to fight it. It’s very apparent that we will have to continue to fight for our rights and proper healthcare. I’ll start with awareness and education. Please please please do not hesitate to reach out to me, I’d love to help in any way that I can.

i hear it’s sunnier…

we’ll make it sunnier…

-M

Other Trusted Sources

National Breast Cancer Foundation

Susan G. Komen Foundation

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Written by Mackenzie
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