Genetics Are Back

Late Friday afternoon I got a call from the genetics ladies at the Piper Center.  It was 3 minutes until my work day was set to be over, but I recognized the tell-tale 612-863 number as one from Piper.  The incredible smart and fast talking geneticist told me my BRCA results were in. 

What? Hold the phone.  These results were supposed to take 2-3 weeks to get back and it had only been 8 days. 

BRCA is the cool genetics way of abbreviating BReast CAncer.  There are 2 breast cancer genes known by  scientists today.  BRCA I and BRCA II. 

BRCA I carried very high rates of early breast cancer, reoccurence of breast cancer, and development of ovarian cancer.  BRCA II also carries the risk, but it's much better in terms of statistics. 

One of the first things people ask a 28 year old with breast cancer is "does it run in your family?" In short yes.  My grandmother had breast cancer more than once which resulted in a bilateral mastectomy.  She then developed ovarian cancer.  But, Grandma Mary (my dad's mom) is still kicking it strong at 83 years old.  Her first cancer developed at age 61.  This isn't young, but relatively speaking it is young.  She is 15 years cancer free from her last cancer.  This gives me a lot of hope. 

Our pathologies were very similar.  She was also estrogen and progesterone positive.  For some reason I never felt this was a coincidence.  You don't find many coincidences in science.  Mary always said "I bet I have that gene."  She doesn't have a lot of direct breast cancer links, but there were many other women in her family who also died of breast cancer at fairly young ages.  Mary was never tested for BRCA.  Back when she had cancer there were not laws in place to protect her family.  Her doctors actually urged her NOT to get tested.  He told her if both she and her son's families had Blue Cross (or any of the same insurance) if she came back positive Blue Cross could use her diagnoses as a pre-existing condition and cancel her son's policies.  She didn't want to hurt any one from getting medical care if they needed it. 

Because I am so young and there are now federal laws in place to protect my families, I opted to get tested.  I felt like this was the final piece of information my Type A personality needed. 

I am BRCA II positive.  I carry the breast cancer gene.

Somewhere along my gene sequence at pair 2,609 (or something like that) I am missing a T.  Think of your DNA unfolded like a ladder.  At each rung of the ladder there is a pair of letters.  The combination and order of the letters make you who your are.  G, T, C, A.  The G is matched with C and the A is matched with T.  Down my ladder where there is an A I am missing my matching T. 

Something so trivial, yet so tell tale of what is going on in my life today.  This mean my dad has to have this gene and Grandma Mary has to carry this gene.  She was right.  She is a breast cancer gene carrier. 

To some this may sound awful--NO!!  To me this is great news. We know exactly what is causing my cancer.  This is one of the 2 most studied breast cancer genes.  Doctors and scientists know how to FIGHT my cancer.  This also means my surgical options aren't really options any more.  The recommendation for someone who carries a BRCA gene is to do a double mastectomy.  I AM MAKING THE RIGHT CHOICE!! 

This results took a huge weight of uncertainty off for me.  There is still a lot of unknowns and hurdles to pass, but right now I know the plan of action we have chosen is the right one.  I will not second guess myself and I will never look back and think I should have chosen differently.