It's all in the Genes...or, Genetic Counseling…it’s all so confusing!

It is quite ironic that I find myself creating this blog and posting just after the 1-year anniversary of loosing mom to a brief but brave battle with Ovarian cancer.

About a year ago, my sister, Tracey, and I started on the path of genetic counselling. We were offered genetic testing because of our family history:

• Mom - ovarian
• Mom's father - pancreatic developed at a very young age (51). The average age for the development of this cancer is 72
• Mom's paternal grandmother - ovarian
• Mom's paternal great aunts (all 8 of them!) - breast

On March 28th, 2008, Tracey and I had an appointment with Dr. Jack Jung, a Geneticist at the London Regional Cancer Centre, to receive our test results. Much to our shock, I was told I have a mutation with my BRCA2 gene. We were really expecting we'd both get a negative result. Perhaps a bit of denial, plus because of the fact mom was 65 when she was diagnosed, so we thought perhaps it was just a random cancer. The Exon 19 is missing from one of my BRCA2 genes. It’s confusing and I won’t even attempt to get into the science of it all, but it means that my BRCA2 genes may not function if needed. The BRCA1 and BRCA2 genes are tumour suppressors. Tracey tested fine. She has no genetic mutations. I am glad that if it had to be one of us, it was me...I have no children and won't pass on the mutation to anyone and because my sister is negative, we won't have to worry about my niece.

Dr. Jung said mom’s ovarian cancer was more than likely genetic although we never had the chance to test her so will never know 100%. Poor mom never had a chance. She had no symptoms whatsoever and her tumour was found "by accident" while undergoing testing for another illness.

Dr. Jung was an incredible man and he let us receive our results together. They even let DH sit in with us. The other Geneticist in London will only see people individually. I’m glad we were allowed to be together to receive the results because I don’t think I could have handled it on my own. Of course I cried and screamed, and let’s just say, I’m still numb. And I had been so excited about a shopping trip in London, but after our appointment, I didn’t even feel like doing that!

This does not mean that I will definitely develop ovarian or breast cancer, but I have a much greater chance…up to 40% for ovarian and 85% for breast. Dr. Jung is strongly recommending I have a prophylatic oophorectomy which is the surgical removal of the ovaries and fallopian tubes. I can have a complete hysterectomy if there are uterine problems, but is not necessary if there are none. He says it is a very simple surgery with one small incision. They do it with laparoscopy. He says it’s an even easier surgery than gall bladder surgery with likely only one night in the hospital. Having the surgery can reduce my chances of developing breast cancer by 80% and ovarian cancer by 94%. Dr. Jung is referring me to a gynaecological specialist in London in this field as there only a few in Ontario. He is also referring me to a breast oncologist / specialist. I am having a breast MRI on April 7th, which he says is a fabulous thing and I will likely need to undergo one yearly for early detection.

With having the prophylatic oophorectomy, I will of course hit instant menopause. I am already in the early stages…very infrequent periods, crazy night sweats, etc., etc., so this will just speed up the process some. Time is of the essence because for this surgery to do its thing, I need to have it done before the age of 45 or before full-blown menopause, whichever comes first! He says that although this will make me hit instant menopause, there is a benefit because of the reduced oestrogen, it will significantly reduce my risk of breast cancer. They DO NOT recommend hormone replacement therapy (I can’t take hormones anyway because of a previous medical condition). He says HRT is a double-edged sword and they never recommend it to anymore, especially where cancers are involved. There are naturals out there I’m sure I can use to help with the process.

As my brother-in-law said, "Not that it’s a good thing that mom died, but at least because of it, mom has given me a gift and I now have a head’s up and can do things to protect myself." I know she’s watching over me right now...she is my angel.



That’s about it. I’m still digesting all of this. Good thing spring is upon us…at least all this spring cleaning will keep my mind off of things! :-)