I tested positive for a gene mutation?

"You have tested positive for a BRCA2 gene mutation. .." Really? Are you sure? "Yes," the geneticist says, "...here are your results." You have a mutation in your DNA, "6503delTT."

Although I knew I may be positive for the BRCA genetic mutation, I convinced myself over the eight weeks I had to wait for the results, that I probably wasn't positive. It seemed so rare, but I had the family cancer history that warranted the testing.

WOW! A lot of things seemed to make sense all at that moment. That's why my great grandma, grandma and my mother all died in their 50s. I couldn't understand why my family seemed to have such bad luck. Was God picking on me? But now there was a reason, an explanation, an exact identifiable spot on chromosome 13 that was messed up. We all have that exact mutation, "6503delTT."

Do I cry? Did I cry? I can't remember. I remember being flooded with emotions. Angry, sad, confused, anxious... but mostly for me, I was worried what this would mean to my children. What would they do if they had to go through what I went through with my mother's ovarian cancer? Do they carry the gene? Did I give them a bad egg? 50/50 chance for each of them to also test positive. What do I do now?

At that time on August 1, 2013, I had a hard time finding reliable information that was unique to people carrying breast cancer gene mutations. There is plenty of information on breast cancer and ovarian cancer, but the statistics and treatments were so very different for me. There are many differences even between BRCA1+ and BRCA2+. I have subsequently become involved with Ambry Genetics to help develop a patient site for families affected by gene mutations. This website, www.hereditarycancer.com, offers a wealth of information to help you understand and research what your gene mutation can mean for you. There are many upcoming decisions to be made, and having all the necessary information to make an informed decision is critically important.

So now you take a deep breath, get a cup of tea or a latte, and slowly start navigating the site. This is a lot to take in mentally, emotionally and spiritually. You have to take your time and let it sink in. I would avoid general Internet searching for now - there is too much misinformation and irrelevant information to those of us with gene mutations. Information overload is not the best choice when you are first diagnosed. Hereditarycancer.com has everything you need to know about as you start your journey.

My emotions were all over the place. My advice? Just go with it. If you are sad, be sad. If you get angry, be pissed off! It is a process and really the only way to keep moving forward without stuffing everything inside. Let me say, "I'm sorry you have to go through this, I'm sorry your family has been dealing with its effects possibly for generations." It takes a toll on the entire family system. So after you have had some time to process... to cry, to be angry, to be sad... then we are going to move forward strong, proactive, and with a BRCA POSITIVE attitude! You can quite possibly have the power to change your destiny and change your entire family's futures. That is the blessing that comes from this knowledge.  

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The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.

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