Do you know what is in your GENE’s

Marla Vinink-Valcarcel

I lost my father to melanoma when I was 19, he was 46 years old.  At the funeral, I kept hearing family members talk about how my paternal grandmother also died of cancer at 46 years old.  Coming into adulthood, I questioned do I need to worry when I turn 46? 

Each time I visited my ob/gyn for my yearly checkup, my doctor would ask if I had any changes in my family history.  Over the years, several maternal family members were diagnosed with breast cancer.  In early 2018, when I was 41 years old, I updated my ob/gyn about my maternal aunt’s breast cancer diagnosis and my doctor said I would benefit from taking a genetic test that identifies mutations in different genes.  I left that appointment and completely forgot about the test.  It was only several weeks later at my routine mammogram when I was filling out my paperwork that I looked at the bottom of the form and saw a section with a box labeled, “learn more genetic testing.”   Knowing testing had been brought up to me, I decided to check the box.  Reading this, you should know I am a classic Alpha personality.  I think and plan out everything including projecting end results, so it was so strange that I just checked the box and went on my merry way of getting my boobies squished. 

After my mammo, I was taken into a room with a genetic coordinator who reviewed the process with me.  Again without thought, almost like something was guiding me, I put my saliva in the tube and submitted my DNA.  As I was doing this, I briefly thought, “Marla, are you prepared for the results?”  As quickly as I thought of this, it went away.

Less than two weeks later, on my best friend’s birthday, I was contacted by the genetic testing company advising me that they had my results and needed to schedule an appointment with me to review them.  This is standard procedure, but I intuitively knew that the results yielded something.  Later that evening, I contacted the genetic counselor, logged into my computer and then the counselor released my results.  In big bold letters at the top of the page “A pathogenic mutation was identified in the BRCA1gene”.  From that moment, my life has never been the same.  I now have an 80% chance of having breast cancer and 54% of ovarian cancer over my lifetime.  I tried to go through that weekend, attending my best friend’s birthday festivities as if nothing was wrong. 

Like I said, I am an Alpha, so if I can plan out a way to reduce my risk of cancer, I will.  The following Monday after my genetic test results, I immediately started scheduling appointments with my ob/gyn, breast surgeons, geneticists, and gynecological oncologists.  I am grateful for my great team of doctors at Miami Cancer Institute that I work with that listen to my concerns and address my fears. 

My mother was diagnosed with breast cancer in October 2018, exactly a year later and at the same age as my aunt (her sister) when she was diagnosed.  Both were treated with lumpectomies and radiation.  My mom proudly rang the bell at Miami Cancer Institute in January 2019.  They both remain cancer free.  My mom did the genetic testing and she does not have the BRCA1 mutation, so I know that the gene came from my father.   

After my results, I found out that a paternal great-aunt died of ovarian cancer at 48, another paternal great-aunt died of breast cancer in her 60s, and my paternal great-grandmother died of breast cancer in her 60s.  My grandmother died of stomach cancer, which is not tied to BRCA1 but it is likely that it could have been ovarian cancer that presented itself as stomach cancer.  My dad’s family “curse” became clear. There was no curse, they had the BRCA mutation!  I was now in control of breaking the cycle.  I felt bad for my dad and his family members because they didn’t have the knowledge I now have to take preventative measures to reduce my chances of breast and ovarian cancer. 

Within 8 months of finding out I had BRCA1 mutation, I had a full radical hysterectomy (ovaries, tubes, and uterus) including cervix removal.  I knew the easiest decision for me would be the removal of my reproductive parts because no one would “see” them and would know any different.

The double mastectomy has been weighing on me so much more psychologically.  I have worked out a plan with my breast surgeon for my double mastectomy.  It will be before I reach 45 years of age.  I continue to go to my breast surgeon twice a year, along with MRI, mammogram, and ultrasound monitoring every six months.   While taking these proactive measures doesn’t guarantee I won’t get cancer, it reduces my risk.  I will be able to do the things my father didn’t get to do; see my kids graduate college, get married, and have their own kids.  Most of all, I miss the fact that he would have made an awesome grandfather to my kids. 

As a side note: I’ve been able meet distant relatives who have the same mutation as I do.  How cool is that?  I’ve also been able to educate my friends and family about genetic screening.  As a result, a coworker and friend found out she too had a mutation.  We underwent our hysterectomies within six weeks of each other with the same oncologist.  I was able to walk her through the process, so she knew what to expect.  I feel that this has been a blessing in disguise.  It’s allowed me to take control of my future and help people at the same time.

Contact info:  marlav@bellsouth.netHometown: Miami, FloridaBRCA1 #unbrcable

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