Genetic Testing

Whenever I tell people I was found to be a positive carrier of the BRCA2 mutated gene, the question always comes up "Well how do you know?  How did you get tested?"  That is one of the things that I think that more people need to know about, and know that the option is there.  Let me first start by saying that that only about 5% to 10% of breast, ovarian & colectoral cancers are linked to a strong family history of cancer.  Cancer ran on my mom's father's side of the family.  My grandfather (and apparently other distant relatives)  my aunt, and my mother all had Cancer.  The age of diagnosis of both my aunt and my mother were relatively young (~31, ~42) so the question came up about family history and a possible genetic link.

  I was probably about 20 years old when I started looking into Cancer Genetics and decided to discuss things with my family physician.  I told her that I had learned about the London Cancer Genetics program and I wanted to investigate further a possible genetic link.  The doctor didn't support my decision and felt that learning of any sort of genetic link would cause me more stress in life, and said that she would continue to monitor me because of my mother's cancer.   I didn't like her response, and I was determined to at least have the opportunity to investigate things further.  At an appointment with an OBGYN, I discussed with him my interest in learning about Cancer Genetics, and to my surprise he offered to write the referal that I needed in order to proceed with the investigation.

 I received a package in the mail about 4 weeks later, that my mom and I had to complete.   There are a number of questions (like 10 pages) to be filled out.  The questionnaire asks about the family history, and they ask that you give them any pertinent information.   My mother and grandmother were both still alive at the time, so I was able to ask them both alot of the questions with a lot of names and dates and stuff like that.  Once the paperwork was completed, my mom and I were asked to go in to talk to the genetic counsellors and learn more about the BRCA1 & BRCA2 genes, and what they could mean in relation to the family history.  We both had to meet with a genetic counsellor individually to determine if we were psychologically prepared to learn if we were carriers of the gene, and the risks associated with it.  (I think I remember my mom laughing thinking "risks associated?  I've already got Cancer, what other risks can they tell me?"

For myself, learning if I was a carrier of a gene, meant that I would have many things to consider.  Things like that fact that there is a 50/50 chance of passing the gene on to any children that I have, or just simply knowing that I carry a gene, and would mean that my chances of developing Cancer would be greater.   Here's the thing though, I wanted to know.  After the counselling session, I knew that I was ready. Anything they were going to tell me, i'd deal with later, I just wanted to know.

They drew my mom's blood first, and the process took a long 9 to 10 months to get her results back. They say its like looking for a needle in a haystack I guess. They have to take her DNA and basically look at every strand until they find what they might be looking for.   And well, when they found what they were looking for, it was a mutated BRCA2 gene.

I think it was June of 2005 when my mom received her positive results for the gene mutation.    My mom was undergoing treatment at the time for metastatic breast cancer, in her bones, but she made the trek from Barrie to London to meet with the Genetics team.  They told her of her positive results (which believe it or not, really didn't surprise either of us) and then I decided that day to have my own blood drawn.  I would wait almost a year for my results.

Mom died in January of 2006, and in April of that year, I received my positive results.  A good friend of my mom's came with me to meet with the genetics doctor and he told me that I also tested positive for the gene.  He explained to me that I would now be admitted into the "High Risk Breast program" through Cancer genetics and would be monitored closely.  I was offered further counselling for the results, but never felt the need to pursue the offer.   Never once, did I have any negative thoughts about the positive diagnosis.  I guess I just knew all along that there was a good possibility that there was a chance that I was a carrier, and I would deal with things as they came.  

The high risk breast program set me up with a breast specialist, a plastic surgeon, and an ovarian specialist (I also have a 40% chance of developing ovarian cancer because of this gene vs. general population of 2%).  I was to meet with the breast specialist first to discuss my options, and decide what I wanted to do.  The specialist also set up referals for mammograms & breast MRI's every 6 months for better monitoring.  I have also been seeing the ovarian specialist every 4 months for ultrasound and bloodwork to rule out ovarian cancer.  Once I am done having children, they have recommended I also do an oophrectomy (removing the ovaries) to prevent ovarian cancer.  The decision to pursue the mastectomy went back and forth for some time.  At first I wanted to jump right at the opportunity, but then life got busy, and the decision was put off.  When meeting with the breast specialist at my last appointment in January, it was decided that we would move ahead with the mastectomy now, in order to prevent any problems down the road.  My body is a "ticking timebomb" and no one knows when or how that gene will decide to do it's thing and multiply the abnormal cells.  Better to get it done and be safe, then worry down the road.

I do not consider this gene a death threat.  I consider it to be a part of my mom that I just happened to acquire.  It does not mean that I have an illness, or anything wrong with me.  How many of us carry genes that we don't even know about?  How many more diseases and illnesses out there are gene related, and science hasn't even made the connection yet.  I'm lucky that I know that I carry this gene, and i'm lucky that there is something I can do about it.  I will pursue having children, and if they acquire the same gene from me, they will have the same choices and options that I have had.  Twenty years from now, when my children are grown we'll hope they have found a cure for Cancer, and who know's maybe even another way to prevent the disease.  I will share the knowledge I have, being a carrier of a BRCA2 gene with my children, and let them decide what they want to do about it.  I have choices, and they will too!

A bit of the history

I remember the day like it was yesterday.  Where my dad was standing, where I was standing and the words to be spoken, the words no kid wants to hear "Your mom has Cancer," and the absolute rush of emotions that ensues and the crazy thoughts that started running through my head.  That moment was only a short version of what the next eleven years would look like as the battle with the disease continued, and eventually took her life.

I'm 28 years old, married with no children, and we are starting to plan for the future of our family.  I have made the decision that I will not allow my children to have to endure the same life that I went through.  I am taking a stand to say "I will not have breast cancer". In 2006, shortly after my mother died of metastatic breast cancer, I was tested and found to be a carrier of the BRCA2 mutation, the dominant gene related to breast cancer.  This means that I have an 85% chance of developing breast cancer vs. the general population of 12%.  After discussions with my family, doctors & friends, I have decided to have a prophylactic (preventative) bilateral (both) mastectomy (removal of breasts) with reconstructive surgery.  I'm making this choice and saying to myself and others, I will not let breast cancer take my life.  I will not make my children have to endure a life with an ill parent and all the emotions that come with it.  I also hope to empower other women with a family history of breast cancer to discuss their options with their doctor and make the same choice I am making. There is no cure for breast cancer, but there is prevention.  And for me, prevention is the best cure i've got.  My surgery is scheduled for April 6th, 2011.  I want to keep this blog of my journey and share it with other women.  My hope is that, in doing this surgery, I will not only change my life, but I will also empower women to change their lives too.   I hope to send a powerful message to women to say there IS something we can do about breast cancer!