Its All Genetic

  
When I was diagnosed with breast cancer, my family and I were so caught off guard. Of course a kazillion questions come to mind in the midst of being completely awe struck that at 26 years old, my life would be changing forever. The biggest question pressing on all of our minds is the HOW? How in the world at 26 years old, being pretty fit, typically healthy, working full time and planning a wedding of my dreams… 

How do I have cancer?
I remember geting the phone call following my friday biopsy on monday, and that week my life became swampped with appointment after appointment in preparation for treatment. Until you go through the cancer diagnostic process you have NO idea (or atleast I hadnt and I work in the healtchcare field) how many different specialists could be involved in your care.

I went from many years since high school hardly having a PCP to in a matter of days having a binder with a list of 10+ physicians or healthcare personele who would be guiding my journey. As I sat and listened to my amazing oncologist Dr. Jane Raymond, i remember looking up at her through teary eyes, john holding one hand and the other with a fist of tissues as she told me I was to meet with a gentetic counselor just in case they could rule out a genetic component to my diagnosis.

As per the dictionary, Genetics is the study of heredity and the variation of inherited characteristics. So where does this fit into a cancer diagnosis.
My back story:

Up until I was diagnosed with breast cancer, and being one of 3 daughters and a young women in what you can call a predominantly women filled family tree, we pretty much came to the conclusion that genetics did NOT play a role. On my moms side the only main health concerns were primarily arthritis and heart disease, my dads side high blood pressure, diabetes, and a few uncles did have lung cancers which we related to environmental causes from working in the steel mills their whole lives.

As we sat down with my gentetic counselor, she drew out the very detailed family tree just to visualize my upbringing and dive a little deeper into our past. I decided that the process of genetic testing was 100% something I was interested because 1. If I was positive for a genetic mutation, I could save someone else in my family, but also 2. Due to my young age and the rarity of the breast cancer diagnosis at 26 years old, I could opt for scientists to do research on my genes to perhaps save someone elses life! How absutely incredivle is that!
Although genetic testing has a lot of ethical concerns, from working in healthcare, the benefits for me totally outweighed the negative attributes. 

There are many laws in place to protect patients who do indeed go through genetic testing where if a gene mutation is identified you cannot be denied healthcare or insurance coverage from a pre existing or pre-disposal of a specific diagnosis (thank you Obama). This was my biggest concern being that I am so young, i didnt want to ever be denied something or have to pay kazillions of dollars for insurance for the rest of my life.

How the testing works:

Now im sure there are many ways to go about genetic testing. My counselor met with me and my family, went over a whole binder of information then followed this testing strategy. 
1. I couldnt have eaten or drank for atleast an hour, lucky for me I was so nervous with all my upcoming appointments that my oral intake had diminished and I was yet to ingest anything that day anyways.

2. I was provided 2 plastic vials. These tubes have a mouth hole and a fill line. I was instructed to SPIT, yes i said it, spit until the saliva reached the line (not the most dainty of tests… But it would have to do)

3. Once the vials were filled, you close the lid which then punctures a small canister and another liquid is realized into the saliva to perserve the sample (scientists are so amazing, how to they come up with this stuff?!)
What this test was looking for:

There are currently 13 Genes that have been identified up until this point that relate to breast cancer. Many of us are most aware of BRCA1/2 gene from more social media and celebrity advocacy which Angelina Jolie tested positive for and opted for double mastectomies as a precautionary measure prior to an actual positive cancer diagnosis.The Kardashian family also just showed an episode where Kris Jenner encouraged all of her daughters to undergo genetic testing because their grandma had breast cancer. (Side note: once again, we MUST remember that breast cancer IS NOT a woman only disease! Therefore, Rob Kardashian technically also should have been tested… Cough cough Kardashians!)

My results:

To our surprise, and even though we were all convinced there would be nooooway really for me to have a genetic component because once again up until this point we did not identify anyone in my family with breast cancer. I am indeed POSITIVE for a moderately rare gene mutation identified at PALB2. 

Lets take PALB2 Basics:

” The PALB2 gene is called the partner and localizer of BRCA2. It provides instructions to make a protein that works with the BRCA2 protein to repair damaged DNA and stop tumor growth. Research published in 2014 found that an abnormal PALB2 gene increases breast cancer 5 to 9 times higher than average, almost as high as an abnormal BRCA1 or BRCA2 gene. Women with an abnormal PALB2 gene have a 14% risk of developing breast cancer by age 50 and a 35% risk of developing breast cancer by age 70. In comparison, women with an abnormal BRCA1 gene have a 50%-70% risk of developing breast cancer by age 70. Women with an abnormal BRCA2 gene have a 40%-60% risk of developing breast cancer by age 70.” (Thank you, http://www.breastcancer.org)

Okay okay enough of the statistics, numbers are boring and just BlOW my mind…

So, What Does This All Mean for Me?

Ultimately this information is important for 1. The rest of my family because now they could be at risk if they have the same genetic mutation. 2. My offspring because I can pass down the gene to them, and 3. To my overall care and treatment because surgical strategies may change now because of the genetic component there is a higher risk of my cancer returning. ( however knock on wood this IS going to be a one time battle👊🏻)
Since Ive been identified at having a genetic component, my little sister Jill has also undergone testing and DOES NOT have the gene. My middle sister Samii has had a BRCA test done and DOES NOT have that gene however testing is still pending regarding PALB2. My aunt on my dads side has also been tested and she DOES NOT have the gene.

All this being known, as far as I see it… I basically just have really shitty luck! I am officially the first person in my family tree (other than a recently identified great great aunt on my dads side) to have breast cancer! Some people say I should play the lottery more, others say I should go on a game show… Whether it be luck or fate we shall never know, however thankfully due to genetic testing my families future may be saved.

If you’ve been following my blog, you may be aware that I had undergone IVF or fertility treatments to removal my eggs and make some embryos with the help of my hubby to preserve that chance of us being able to have our own babies. Now that I have been identified as having a genetic mutation, thanks to scientists, technology, and truly amazing human beings… My eggs can now each be tested for the PALB2 gene before we even bring a baby into the world! Although some may think this is sacreligist and that we are manipulating our future kiddos… In my eyes, I am saving them from one less battle in this difficult place we call LIFE!

What Can You Do to Decrease Your Risk?

If you know that you have a genetic mutation or the fact that someone in your family has breast cancer but never had genetic testing completed, there are some lifestyle changes that you can make to lower the risk!

1. Maintaining a healthy weight: sorry girls, well and guys too… I guess we all should jump onto the weight loss band wagon! Kidding kidding, but it all makes sense, the healthier your weight, the lower the chance of predisposed illness! Find a weight that you are happy with… And by MAINTAINING that overtime, you decrease your risk of cancer, and dont have to spend as much money on clothes because your size will never change;) come on, we have to see the bright side of every situation.
2. exercising regularly

limiting alcohol

eating nutritious food

never smoking (or quitting if you do smoke)

A Few “Did You Knows!”

*About 5% to 10% of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child.

*If one family member has an abnormal breast cancer gene, it does not mean that all family members will have it.

*The average woman in the United States has about a 1 in 8, or about 12%, risk of developing breast cancer in her lifetime.

I am a proud supporter of genetic testing, and although these tests typically are expensive and often not covered by insurance, due to my age and a positive breast cancer diagnosis our insirance has covered mine and my sisters testing 100%. Since my diagnosis of the PALB2 mutation, my treatment plan has shifted from the possibility of just a lumpectomy to undergoing bilateral mastectomies (though still completely my choice) because the prevalence of reoccurance is 30% with this gene! That is wayyyy too high of a risk for me especially because I already promised myself to be done with all this forever!

If you have any questions regarding genetic testing, I can do my best to help. You can always look for a local “genetic counselor” if you are interested in undergoing any testing yourself!

Hopefully sooner or later with the great minds of science hard at work, we will one day atleast gene-wise prevent/ find the cure to breast cancer! Until then, we will continue to fight one day at a time❤️

Xoxo Meg

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