Thursday, March 3, 2011

Genetic testing and results

I was recommended to get a genetic testing for BRCA (breast cancer gene mutation) by the first doctor we went to.  After transferring to UCLA, it was also prescribed and the test was done quicker because they have it available in the hospital.

I went to see the genetic counselor on February 23.  I was lucky to be accommodated the day after I called because they happen to have a cancellation.

It took an hour of of counseling and learning why I needed the genetic testing.  In a nutshell, I have breast cancer at an early age (<50 y.o.)  and I have a strong family history of breast cancer (2 maternal aunts who passed away).

The genetic counselor told me that not everybody opts to have the genetic testing because when they are afraid to find out that they are positive, then they are faced with more decisions on top of what they already are going through now.

But I decided for it because I think it is better to know now than be surprised again with another diagnosis in the future.

c/o (the test done to me)
Having the inherited gene mutation increases the risk of getting breast cancer, having a second cancer and developing ovarian cancer.  The general population's risk of getting cancer by age 50 is 2% while BRCA mutation increases it 25x, making the risk to 50%.  Without the gene mutation, the risk is 8% by age 70 versus 87% with BRCA.  

Without the gene mutation, the risk of developing a second cancer is 11% versus 65% with BRCA.  Lastly, the risk of getting ovarian cancer is increased 44x, with BRCA the risk is 44% versus less than 1% in the general population. 

So, I was tested for the genetic mutation, a blood sample was taken and sent to the lab that specifically processes this kind of testing.  The result will be given after 7-10 days.

This morning, my genetic counselor called that she has the results. 

So the verdict:  I am positive for the BRCA 2 gene mutation,  which causes Hereditary Breast and Ovarian Cancer (HBOC) Syndrome.

Everyone who are diagnosed with this asks:  so, what's next?

Their recommendation is to have a double mastectomy because the risk of having a second cancer is too high. 

Also, I was asked if we are still planning to have another child.  I said, "of course!".  Their recommendation is to have my ovaries removed by age 40, once i'm done having children.  I don't know how likely that will be to have a child before 40.  By the time I finish Tamoxifen (drug therapy for breast cancer to be given for 5 years), I will be 40.  But who knows?  Maybe we will be blessed with another beautiful baby before they would have to take these ovaries out. 

There is not much disadvantage to having a double mastectomy except I won't be able to breast feed again. :-(  But I think living longer is more important so I can take care of my family. 

Having an ovarian removal will be more tough because one will go through an early menopause and I heard its rough on the body.  Aside from the symptoms, there can be bone loss too.  But I will discuss all these fears with the surgeon this coming week, when the treatment will be finalized. 

I'm glad to have been tested.  Even though the decision laid down before me are overwhelming, it is better to know now than when another cancer has appeared.  It also gives us more treatment options now on how to possibly lessen the risks.  Lastly, knowing this (gene mutation), my sister and mother have to be tested soon because they have a  50% chance of having the gene mutation too.  I am also advised to share the results with the rest of my extended family (aunts and cousins) to have them get tested.  Its now a family affair, as they said. 

I will be most HAPPY if they all tested negative for the gene mutation.  I'm hoping and praying. 

If you can , please help in raising funds for Krissy's Breast Cancer treatment:

1 comment:

  1. Hi,Krissy,
    Thanks for sharing this. I used to think I have to take the CA 125 test, now I know what test to take. I'm also high risk given that a maternal aunt has died of breast cancer. Another had a mastectomy and complete hysterectomy. My mom had hysterectomy. Like you, I'd rather know now than be faced with deeper complications and decisions later. I'm so glad and inspired by your courage and strength, Krissy. Keep the faith and the fight and continue to be a beacon for women. God bless you. :)