Half Baked Genetic Testing

Direct to consumer genetic testing is becoming more popular.  I am not completely sure how I feel about that.  I think getting tested if you are at risk is certainly a positive.  However there are some major drawbacks to getting tested without a genetics counselor.

Oh sure, I may have been able to spit into a tube or scrape the inside of my cheek...send it to a lab somewhere and get my BRCA1+ result.  

That is the EASY part.

BUT

Would I have known what to do with that result?

Sadly, I think not.

That lapse could have resulted in a stage 3 or 4 cancer diagnosis instead of a stage 1

and that my friends *is* HUUUUGE 

(said in my best Donald Trump mocking voice)

I think it's a bit like having some of the ingredients for a complicated recipe...but not actually having the recipe.

So are you missing a key ingredient?  How exactly are those ingredients combined and what is your desired result?

Not only can a genetics counselor take a detailed family history to pinpoint the specific genes to test for, they can also tell you the risks of your mutation, if your tests come back positive.

They also can help you set up appointments and further preventative testing so that you are accurately screened and cared for in a manner specific to the mutation you carry.

For me...that was life saving.

Within a month of my brca1+ diagnosis I had met with my breast surgeon and gyn oncologist, had a mammogram, a pelvic ultrasound and blood work drawn.

I began the process of scheduling my first prophylactic surgery.

All of this occurred while I was working full time, and in the process of selling a home, buying a home AND moving my family cross country.

Being completely honest, if I had done a mail order test I am very sure I would not have done much else, given all the other events going on in my life at that time.

So yes, I support genetic testing

BUT GENETIC COUNSELING SAVED MY LIFE

Because when you cook a complicated recipe I need all of the ingredients AND the information to make it.

In this case, that recipe was my life.

Happy Cancerversary

To me...

A year ago tomorrow I discovered they found high grade aggressive cancer in my fallopian tubes after my "preventative" surgery.  It was the most surreal moment in my life.  To hear the disease I feared the most, had been found was ...terrifying.  I distinctly remember my "nurse" brain trying to hear and process the specifics as my doctor reviewed the surgical pathology report.  While the rest of my brain was screaming "OMG YOU HAVE OVARIAN CANCER! "

I've spent today reflecting on the last year.  My diagnosis, treatment and how much my life has changed since that day.  On the outside I look pretty much the same now.  Oh, my hair is a little shorter and greying.  But inside I am a completely different person. I have added a label to who I am.

I am:
A mother
A daughter
A wife
A sister
A nurse

and

A cancer survivor.

Nothing will ever change any of those things.  They each are a huge part of who I am.

Although I wish I had never seen this side of cancer.  It has brought forth a side of me and my family I am amazed by.  Cancer has stripped us down to the very core.  To appreciate life, family and friends.  To kick negativity to curb.  To realize that perhaps this is where I am meant to be.  


Some people have asked if I am going to continue to blog now that I have gotten through chemo and life has (mostly) returned to normal.

The short answer is yes.

There is so much more to write.

For example there is so much education to be done about genetic cancer from the viewpoint of those affected.  We are the first generation with genetic validation of our fears.  While preventative surgery and surveillance can be lifesaving.  They also open up a whole new set of issues and anxiety.

A few days ago on my commute home from work I was thinking about how I wished I had had my ovaries and tubes removed when I had my hysterectomy 10 years ago.  But we simply didn't have the knowledge then, we have now.  Honestly there are many places that still lack good medical care and genetic counseling for individuals with cancer family histories.

As I drove a little further I realized I have the opportunity RIGHT NOW to beat cancer again by having a double mastectomy and reconstruction before they find breast cancer.  So I have a appointment to meet with a plastic surgeon to start the process.

So yes.  My blog will continue.  My journey goes on....scary and yet I am so very thrilled to be here and to have the option to continue.