Friday, July 13, 2012

Genetic Testing




On Wednesday, July 11th, with breath held, I made my way to Princess Margaret Hospital.  A leading hospital in the treatment of cancers.   As I sat in the waiting room.  My heart beating in my throat.  Awaiting the genetic counselor to come out, so that we could begin what I had been dreading for months now.  My eyes scanned the room.  The bright floral over-sized painting against the beige wall, presumably giving life to the bland room and contrasting against the ugly beige couch and ugly beige club chairs.  I swear, if I listened closely, I am certain that I could hear my heart beating.

Two women come out.   "Laura??"  one of them asks.  I rise and she introduces herself to me.  I follow as she gestures down the short hallway to the back rooms.  As we walk, she explains that she is the senior genetic counselor and the other girl was a student from some University.

We enter a boardroom.  I am invited to sit wherever I am comfortable.  Comfortable?  Is she serious?  I feel like I am going to faint right there on the ugly beige carpeting.

I pull out a chair and sit, setting my purse on the table.  The furniture is cold.  The room is cold.  My eyes scan the surroundings as the two women take their seats opposite me at the other side of the long boardroom table.

I believe my heart actually skipped a beat as she plunked a file folder down on the table.  I swear the 'thud' actually echoed in the sterile room.  She flipped open the folder and unfolded a chart.  Three folds revealed my family tree.  My paternal grandmother, father, aunts, cousins, sisters, and so on.  Our eyes met as she lays down a leaf of paper and begins drawing circles and ovals.  Explaining that we have 46 Chromosomes and these determine what our sex, eye colour, hair colour, height, etc will be as human beings.

She continues on to explain Genetics for Dummies.  Getting into DNA -  (Does she think I am listening?)

Finally we begin the reason for my appointment.  She refers back to the family tree and one by one, she highlights and confirms the cancers that run rampant through my father's side of the family.  My grandmother, who passed away with 11 different cancers.  My Aunt who was diagnosed with the BRCA2 gene in 2003.  Her daughter who was also diagnosed ..... My father who is also a carrier.

She explains that the BRCA1 and BRCA2 are genes we all have as humans, the problem begins when there is a specific mutation of these genes.  She suggested I think of it as a spelling mistake.  This error has been shown to be a marker or pre-cursor for cancers.  In women it elevates your chances of developing breast, ovarian, pancreatic cancers.  In men it elevates the chances of developing prostate and male breast cancer.

Our eyes meet as she talks.  My mind on my dad, dying from prostate cancer, which has spread to his bones and skull and all internal organs.  The pain and suffering he is in.  That his time here on earth is growing shorter and shorter with each passing day.  That my grandmother suffered the same fate.  Was this to be my fate?  Was I essentially given life - and death by my father?

I continue to listen as she rambles on about the BRCA genes.  She explains that since my father is a carrier, I qualify for the testing.  Which can cost thousands of dollars.  But because I am considered a risk - it is covered.  (How lucky am I?)

I let her know that my half-sisters tested negative for the Gene.  And confirm that if I am positive that my daughter will be tested.  And that if I am negative - she will not need testing.  We discuss that this is not something that develops over life - it is passed on at birth.

Dear God!  Please let me be negative.  Not only for myself, but for my daughter!!

I learn that if I am a carrier, because I am done having children, she suggests that I move to immediate ovarian and fallopian tube removal.  And that we seriously consider a mastectomy.  To head off the growth of breast and ovarian cancers.  Because the chances of development with a positive test for BRCA2 elevates the odds upwards of 85% over "normal" people.

It is then explained to me that because my daughter is only 22 years old, and she has not yet had children of her own.  She would be heavily tested.  Mammograms and Trans-Vaginal ultrasounds.   At regular intervals in attempts of 'catching' any growths before they turn cancerous.  However, they do not begin testing until the age of 25.

???????????????????????  WTH ??????????????????????

I will not allow myself to worry about that right now.  This becomes the mantra repeated in my mind.

She asks if I have any questions.  I have many.  I shake my head..  "Let's get started" I answer softly.

She nods and glances down at the file... flipping through the pages .... then looks up at me.

"You have had two cancers?"  -  "Yes." I reply.

I tell her that in November 2008 I was diagnosed with a soft tissue cancer - Dermatofibrosarcoma Protuberans (DFSP).  Which, was operated on in December 2008.  That I am now in my 3rd year of remission.   I further confirm that in December 2011 after having 5 polyps removed during a colonoscopy, 1 was found to be pre-cancerous and 1 was found to be stage 1 colon cancer.

The two women look at one another - and say "I will be right back" as they rise and leave the room.

I am dizzy.  My heart is thundering in my ears.

After what seemed to be an eternity, the women return and begin explaining to me that because I have had a sarcoma cancer, the hospital wants to test me for the p53 gene in addition to the BRCA2.

????????????????? WHAT ?????????????????????

This is apparently something else I could have called Li-Fraumeni Syndrome.  (LFS)  Which can cause cancers of the muscle, fat, and other tissues.  Bone cancer.  Cancer of the Adrenal Gland.  Leukemia. Brain Cancer.  Breast and Colon Cancer.

???????????????????? SERIOUSLY ???????????????????????

Has time stood still?  Suddenly everything is moving in slow motion.  The counselor begins fanning out paperwork in front of me.  My eyes meet those of the student.  Who has been silent for the entire consultation - the look of concern is evident on her face.  'She needs to work on that.' I think to myself.

I am handed release of information forms.  Pathology request forms.  Permission to do genetic testing forms. Sign, Sign, Sign, Signing my life away?  God let me be okay!!

From then I am handed a bag marked 'bio-hazard' containing a blue tube.  I am told to bring this to the lab and directed where to go.

When I arrive I am given a number - #63.  I look at the counter and it reads #59.  I take a seat and hold onto this bag.  I ponder how odd it is that my testing is so rare that I must bring a special test tube to the lab.

My number is called.  Let's hope my number isn't up!!  I rise and follow the man into the room and take a seat.  8 vials later.  I am asked how I feel.  "OK" I reply.  I am asked to sit for 15 minutes, offered some juice and a cookie before leaving.

I know that I am walking, I can feel my feet on the ground - one in front of the other as I move through the corridors leading to the main doors of the hospital.  I feel as though I am walking through some sort of vortex.  My mind trying to absorb all of the information I had been given.  Hearing the counselor saying that the BRCA2 test could take 3 months to come back.  The LFS will take "longer".  Longer?  What does that mean??

So basically I will not be breathing for the next few months.

But I will be doing a LOT of praying!!