Tuesday, September 8, 2009

Genetic Testing Today

Today I completed the testing portion of the genetic pre-disposition. Surprisingly, they hope to have results within 2-4 weeks. Originally, they told us it would take 2 months for results. It was a very interesting session and we learned lots of details.

The genetic counselor created a color-coded family tree based on the data we submitted. She laughed and told us normally the information fits on one page...mine is an 8 page banner. Her personal assessment is my family (Father's and Mother's) is very fortunate to not have more cancer simply based on pure numbers. She ran our family data through 3 different genetic breast cancer models and summarized there is a 5-7% chance that my breast cancer is genetic. They performed a simple blood draw today and will test 2 breast cancer genes (BRCA1 and BRCA2). Within the 2 genes, they will look for missing DNA, DNA in the wrong sequence or abnormal DNA. If they discover something wrong with the DNA in either gene, my breast cancer will be genetic in nature. I did learn that even though the cancer could be genetic, something else (the unknown...environmental, lifestyle, etc) still occurs to affect the good gene and cause the cancer. Each of us has 2 BRCA1 genes...one from Father and one from Mother. Only one gene is affected due to genetics. However, both genes have to be affected for the cancer cells to grow. I always thought it was purely genetics, but there is still some "bad luck" involved.

What does all this mean to me and why am I doing this? For me personally, if my breast cancer is genetic there will be discussions about some preventative surgical procedures. Also, we will know to have my children (girls and Bo) tested at the age of 18 and we will keep a close eye on my girls and begin mammograms at the age of 25. Each child has a 50% chance of having the bad gene if I test positive. If it is genetic, they will offer testing to my mother, my brothers, my sister, my aunts and my uncles. The counselor informed us that some people do not want to know and the testing is all voluntary. The testing only involves the 2 breast cancer genes they know about today.

It was a very interesting session. I am patiently awaiting the results!

3 comments:

  1. Mary, it sounded as though you had an interesting session today. Isn't it amazing what we can know and learn today. I'm sure you are eagerly awaiting the results. Think about you often and hope you are taking care of yourself and getting plenty of rest. Eager to see you in a couple of weeks. Sending lots of love and prayers to you, Dan and the little one. Aunt Liz

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  2. Hey Mary
    I just wanted to let you know that you and your family are in our thoughts and prayers. You can do this. I am so glad that your doctors are doing genetic testing. It is so amazing how much information can be gathered from that. Troy has had genetic testing done to see what markers he has for diseases (colon cancer runs in his family) so we can take preventative measures. I am having it done next. Knowledge is power!!!
    God is strength. He will give it to you when you most need it. Sonia Culver

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  3. Hey Mary!
    Miss you an dyour family to pieces....i loved the picture of you, Theresa, your Mom and the girls! You are sooo brave and I applaud you for documenting this all! I am learning so much and really wish I could be there in person to give you a big hug when needed! Jessica said to tell you she prayed extra hard for you last night! She still remembers when you guys came to town and we went to see you at the hotel! We were watching Grey's Anatomy and she asked me what would happen if she lost her hair like Izzy....I told her I would love her and maybe shave my head so we could go through it together if it helped her to fight! She gets to thinking sooo much and the wheels start turning even at 7 years old! How are your girls? They are SO beautiful-just like you! Stay in touch and fight, fight, fight! We LOVE you and are here for you however you need us to be!!!!!! BIG SMILES:-)

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