Mother and Daughter

It's a lovely thing for a mother to hear that her daughter "looks just like" her, or that she has a laudable characteristic attributed to "being her mother's daughter".  It makes us feel a connection to our daughter and that, maybe, we did something right in raising her. I am just very grateful that I managed not to ruin my own daughter.  As for her character and intellect, she brought those gifts into the world herself.

But I will guaran-damn-tee you, there is one way no mother wants her daughter to be like her--to share a gene mutation that means her child is at an increased risk for a disease of any kind.  Oy!  When I first talked with my surgeon after my diagnosis, he encouraged me to get genetic testing for breast cancer.  I told him that it was clear that I had a proclivity toward breast cancer because, after all, I HAD breast cancer.  We also knew that our daughter was at risk because her aunt, both of her grandmothers, and now her mother, had breast cancer.  We talked about other things we needed to talk about for a while and he encouraged me to have genetic testing once more.  I said "I don't think it is necessary at this time". Before the meeting was over, he returned to the subject a third time.  Okay, now, I'm annoyed, figuring it is just one more unnecessary, expensive test.  So I buttonholed his fine tweed blazer and went nose to nose with him (Steve was ready to bolt out the door at any moment because he knows how I can get) and said in my incomparably confrontational tone:  "I don't GET it?  Why do you keep suggesting genetic testing??!!" He replied in a quiet tone:

"Ovarian cancer".  

Jeezopeezo, why the hell didn't he say that from the get-go?  Ovarian cancer?!!?  OVARIAN CANCER?  Yes, the genetic mutation of BRCA1 and BRAC2 genes that are indication of increased risk for breast cancer are implicated in ovarian cancer as well, and the rate of survival for ovarian cancer patients is approximately a heartbreaking 25%!! Terror struck my heart--for myself and for the implications for Casey.  I was sick to my stomach thinking about her having that sort of "sentence" at 22 years old.  I was now also furious with my surgeon for not being forthright (would I have ever known if I hadn't challenged him?), and with my OBGYN who had not ever mentioned genetic testing for ovarian cancer even though she was well aware of my family history (and who I had asked, specifically, about screening for ovarian cancer when my friend Claudia was diagnosed). Arrrrrrrgh!

Long story short, Steve and I became educated about genetic testing, went through a qualifying screening which basically examined the occurrence of cancer in my family tree, received pre-approval from our insurance company (the test costs a few hundred dollars but nothing compared to the cost of treating cancer), and I had a simple blood draw for the genetic analysis.  Easy as pie.

So, what we found out was:

• 80% of  cancers are sporadic (by chance)
• 10-15% of cancers are familial (occur within family groups but are not clearly genetic)
• 5-10% of cancers are genetic.
• features that suggest hereditary cancer are two or more relatives with the same kind of  cancer, cancer diagnosed before age 50, persons have more than one cancer, genetically related cancers such as breast/ovarian and colon/uterine cancers.  

Hereditary Breast and Ovarian Cancer Syndrome (HB0C) is due to mutations in the BRAC1 and BRAC2 genes.  Here is the frightening part:  Women with BRCA1 mutations have a

•  50-85% lifetime risk of breast cancer, compared to 10-12% lifetime risk in the general population.  
• 40-60% lifetime risk of ovarian cancer, compared to 1-2% lifetime risk in the general population.

THIS IS HUGE!  They have a 50-85% of rain or a 40-60% chance of rain, compared to almost no chance of rain.  The significant difference in risk for ovarian cancer is mind boggling!  (The risk factor for the BRCA2 mutation are exactly the same for breast cancer as the BRCA1 mutation, and the risk factor for ovarian cancer is a 15-20% lifetime risk. But with a 25% survival rate, who wants to play those odds?) Furthermore, the BRAC2 gene is linked to pancreatic cancer, larynx cancer, and melanomas.

And for mothers of sons, if the BRAC1 or BRAC2 mutations are passed to your son, his risk of certain cancers increase.  There are also some ethnic groups with more frequency of these genes than others.

My daughter and I dodged the bullet on the gene mutation (I do not have it so I could not pass it to her).  There is still the family history to keep us alert, but for the genetic results, we are thankful and relieved.  So, we can claim a "happy ending" for now.  I would like everyone to have a happy ending. 

• If there is a history of breast cancer, ovarian cancer and/or colon cancer in your family, the very least you should do is meet with a genetic counselor to assess your eligibility for the test.
• A genetic counselor will work with your insurance company to prequalify you for the test.
• If you have the test performed, the genetic counselor can provide education appropriate for the results of your test.  There are a number of pre-emptive decisions one can make to prevent these diseases.   

There is virtually no way to detect ovarian cancer early except by luck.  It is usually a disease without symptoms until it has progressed beyond an easy cure.  Knowledge of your genetic susceptibility increases your chance to prevent the disease.  

Knowledge is truly power against ovarian cancer.