Showing posts with label Genetic Testing. Show all posts
Showing posts with label Genetic Testing. Show all posts

The things we inherit {A BRCA1 and BRCA2 diagnosis}

Thursday, August 28, 2014

We recently inherited a set of copper lined pots and pans that were my grammy's. They are pots that fed my family, pots that my mom remembers her mom cooking out of. And they are a treasure to me. I've come to love washing them in the sink every night. A simple act of daily living that has suddenly brought me great joy.



Today I learned that I inherited more than just copper lined pots and pans and serving dishes from my grammy. Today I got the call that told me I was BRCA1 and BRCA2 positive. 

I hesitated to share here, but I don't know why I wouldn't. The truth about my DNA doesn't change who I am. I was the same person yesterday that I am today and the same person that I will be tomorrow. Mutation and all, I was made exactly the way that I was made by the creator of the universe and placed in this tiny spot in history to tell a story only I can tell. 

I believe that I am equipped with everything I need to overcome the overwhelming odds that I could develop ovarian or breast cancer. I am grateful to live in a time in history where we know what these mutations are and how to proactively decrease the risk associated with the BRCA 1 and 2 mutations. 

More to come....

About Hereditary Breast and Ovarian Cancer syndrome (HBOC): 
HBOC is a genetic condition that increases an individual's lifetime risk for cancer. HBOC is caused by mutations in one of two genes BRCA1 and BRCA2. These genes make proteins that are important in keeping tumors from developing. Mutations (or changes) in either of these genes allows cancers to develop in certain areas of the body.  

Why we chose genetic testing

Tuesday, August 19, 2014

You may call it controversial, you may say it's not necessary. I say, it's my future. 

My grandmother passed away from ovarian cancer when I was just a baby. My mom was diagnosed with breast cancer when Addison was just a baby. 

Because of my mom's family history (that included aunts as well), it was suggested that she proceed with genetic testing to find out if she was a BRCA 1 or 2 carrier. BRCA 1 and 2 are the gene mutations that greatly increase one's risk for breast, ovarian, prostate, or pancreatic cancer. 

It's rare for someone to carry one of these mutations....about every 1 in 400 people has one mutation or the other. It's extremely rare to carry both mutations. My mom is one of those rare people with both. 

This morning, I sat in a genetic counseling meeting with Brian and my sister and her husband. I brought our notes from 6 years ago when we originally met with the genetic team to discuss our options as a family when it was discovered that mom carried both BRCA 1 and 2. 

What did it mean? 

It meant our chances of being carriers would be greatly increased. At the time, I was 24 with one baby. My mind wondered if I should be tested, but my heart wasn't ready. Back then, there wasn't anything in place to protect a mutated gene carrier from being dropped from insurance. It seemed it would be scary to know if I did have the mutation. What if we could never get covered? What if we were discriminated against because of BRCA 1 or 2? 

But years have passed, and there are three babies now, and there is protection against mutated gene carriers called GINA (the Genetic Information Nondiscrimination Act) that would prevent any insurance company from dropping us or not picking us up due to the knowledge of a mutated gene. And unfortunately the way genetics works is that if I carry one or both genes, there is a chance that my children do as well. And that is something I want to know. 

So today, we gave a blood sample, and they sent it off to be tested exactly like mom's was, and in a couple weeks, we'll know. 


Then the question becomes.....then what? What if I carry one or both genes? I don't know. I'm not there yet, so I don't know. 

I will know that my risk is increased. I will know that I'll need a proactive plan moving forward. Carrying BRCA 1 or 2 does not mean that I will get cancer. It simply means that my chances will be greatly increased for breast and ovarian cancer. It will mean regular 6 month screening at a minimum

There are other approaches too. Having your ovaries removed before the age of 40 reduces your risk of breast cancer by 50%. That could be a very real option and recommendation if I carry one or both genes. Mastectomies are regularly performed on women who carry BRCA 1 or 2 as well. Having both breasts removed reduces the risk of breast cancer by 90%.  

I don't know what I'll do with the information that comes. But I know that I will have options and lots of them. That's the most important thing to understand. If you are in a similar situation, know that you have options. Not everyone will agree on what you should do and how you should proceed, and that's okay. But know that you do have options.

At the end of the day, as I process our decision "to know," I know that it's not about fear. I don't want to know because I'm afraid. I want to know because I'm not afraid at all. 

Modern medicine has given me the opportunity to understand what killed my grammy and her sisters, and it's given me the chance to stand tall and fight back. 

Knowledge is incredibly powerful. Knowing the truth about my body and what I'm made of, will allow me to fight stronger and braver. It will allow me to be proactive and do what's best for my family. 

I don't know how the test will come back. I don't feel one way or the other. Whatever it is, I know that it wasn't a mistake. It wasn't an accident. It wasn't an oversight. 

I was created by the Creator of the Universe. He knit me together. Nothing went awry. There was no misstep. Mutated gene or not, I am exactly the way that He created me to be, and that is all the assurance I need. 

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