Earlier last week, Angelina Jolie made headlines with her
decision to remove her ovaries and fallopian tubes. A few years ago, she tested positive for a
mutation in her BRCA1 gene that makes her pre disposed to having breast and
ovarian cancer. To be proactive, she has
chosen a full mastectomy, and her ovaries and fallopian tubes removed
Ironically, I started the process for genetic testing last week
to see if I carry the mutation.
The request was made in November 2013 after my diagnosis and
only now am I starting the process. It
is a very costly test and obviously there are priority cases ahead of me
(couples trying to conceive, children born with something that could be tied to
genetics, etc)
A year and half after diagnosis, I enter CHEO to speak with
a genetic counsellor.
The cause of cancer can be broken down into three
categories:
60% - is sporadic
30% - is familial (multiple reasons)
5-10% - is hereditary
Hereditary cancer is suspected when several family members
in more than one generation are diagnosed before the age of 50 with
cancer. Geneticists look for patterns in
the family’s medical history
We begin by reviewing my cancer diagnosis, treatment and
then review my family history.
“Boy, do you ever have a small family!” She remarked
“Yeah,” I think to myself “and this is exactly why I fought
so hard for testing.”
The original observation was there was no family
history of breast cancer but once you draw my family tree, you will also see
there are not enough women/people to form a strong opinion, one way or
another. I am an only child, so was my
father and few women when you reach my grandparents’ siblings.
The first observation was that a paternal great aunt who was also diagnosed before the age of 50. There are a couple of other noted cases
of cancer but that occur later on in life.
She then asks if any of my parent’s first cousins have
cancer. Now growing up in a small
community where everyone is related, answering these questions is relatively
easy. Jeez – I can back as far as third
cousins’, twice removed if she wishes.
Then she asks if there is any Jewish ancestry in the
family. I mention, not thinking it would
be relevant, that apparently my great, great, great grandmother was
Jewish. I walked into this counselling session with a 1.6% chance of carrying the mutation. Now my chances for testing positive,
just shot up.
“Really?” I ask “But
we are going back to late 18th century!”
It doesn’t matter how far back. The instant there is any trace of Jewish
ancestry, the chances of testing positive are higher.
The counsellor then reviews the type of treatment options I
may want to consider should I test positive:
Breasts: Frequent MRIs, in addition to mammograms or a full
mastectomy
Ovaries: Testing for ovarian cancer is very difficult
(internal ultrasounds can be performed but since it is hard to even find your
ovaries on the ultrasound, finding cancer is even more of a challenge). You can test your CA125 levels, which at this
time I am not sure exactly what that means or you can go the surgical route and remove ovaries.
Maybe it is considered dramatic but I am in favour of the
surgical route for both.
Since I am not planning on having children, this is not an
issue. After experiencing a post chemo
menopause during the summer, if there is not urgency to remove my ovaries, I
would likely wait a little while longer before I have the surgery. Hot flashes are about as exciting as jabbing myself repeatedly with a fork.
We also discussed the pros and cons of knowing if I carry
the BRCA mutation;
Pros:
1.
It will explain why I got breast cancer in the
first place
2. I
will know if I am at a higher risk for a reoccurrence but look at the above
options to reduce my risk
3. It
will alert my family that the mutation is in our family and they can monitor
themselves accordingly
4. Family
members can also test to see if they have the mutation
Cons:
1.
Create a constant worry – Am I ticking time
bomb?
2. Parents
can feel extreme guilt with regards to causing their child to develop cancer
3. Tension
within the family. Some family members
may want to know as it creates anxiety.
4. Difficulty
or Inability to get life insurance
Wow! I didn’t think
of the cons and how it would affect my loved ones. I am fine with myself – I already battled
cancer and in my head, I wouldn’t be shocked if it returned. I just expect it much later in life the
second time around. But the thought of
my parents blaming themselves or causing stress on others as they try to start
their families with this knowledge in the back of their minds, etc; made me
feel really sad. And I started to
cry…and I continued to be emotional about it throughout the day.
The next morning, I discussed the pros and cons with my
dad. I should have figured he has no
guilt and assured me that this test would help the family in taking care of
themselves and getting checked regularly – which ultimately is a good thing.
Getting back to the testing
I decided there was no turning back while I was at the
counsellor and moved forward with the testing.
It is a simple blood test and results take 4-6 to
return.
I go to the lab in CHEO to get my bloodwork done. I tell the technician that I am more of a
“baby” when it comes to drawing blood than the four year old that was ahead of
me. She offers to freeze my arm.
“You can do that??”
Now why don’t they do that anywhere else? That would have saved a whole lot of headaches.
“Can I have a sticker?”
I sort through the drawer and select Spiderman and Hot
Wheels stickers for my nephews.
And now I wait for the results
