Sandra's Story ~ Cancer, Conditioning and Campaigning for Greater Awareness

13 Oct 2020

My story is unique in that thankfully I have not been diagnosed with either breast or ovarian cancer however, my immediate and extended family have not been so lucky. Cancer has been a defining trait in our lineage for quite some time, my Mother, Great Aunty, and Sister have had the dreaded disease. On the male side, my Grandfather and Uncle, and my eldest Brother have all experienced different cancers (bladder, pancreatic, prostate & bowel).  Like blue eyes or brown hair, repeat cancers kept being diagnosed in my family, so when Mum was diagnosed with advanced ovarian cancer in early 2015, I knew we needed to assess our own risk.

My Mother didn’t proceed with the initial genetic testing because our 2nd eldest brother preferred to keep his head in the sand, although my sister and I knew we had to push ahead, we finally had Mum's agreement and blood taken the week she passed away in March 2017. The genetics team tested for a panel of 5 different genes (BRCA1 + BRCA2, PALB2, ATM & TP53) common to breast & ovarian cancers. The results were in, September 2017 we were told Mum had the PALB2 gene mutation, so we started our own journey on PALB2 gene testing later that year. We were given the news in November 2017, we both carried this PALB2 gene mutation. Thankfully Mum died in March 2017 without this knowledge.  

PALB2 is a ‘cancer protection gene that helps to protect against breast, ovarian and pancreatic cancer. Everyone has two PALB2 genes (one from their mother, and one from their Father). If one of the genes is not working, this is known as having a faulty PALB2 gene or having a PALB2 mutation.

The mutation means that we have 55% chance of developing breast cancer and about a 5% chance of developing ovarian cancer over the course of our lifetime. In addition to this, we have an increased chance of developing pancreatic cancer - not everyone with the gene will develop cancer but it's safe to say the odds were heavily stacked against us.

Remaining vigilant with our female reproductive health is our best course of action against the disease, so having regular screenings, ultrasounds and mammograms are imperative. Of course, by the time my sister and I got around to having our specialised breasts checks (3D mammogram & ultrasound) they had found a 17mm lump in her breast wall.  There had been no family history of breast cancer before my sister's diagnosis. Additionally, it is lucky my sister actually had a 3D mammogram & ultrasound, not a standard 2D mammogram (which is usually administered) because they wouldn't have found the lump.  I just don’t understand why we don’t all have access to 3DMammograms & Ultrasound, although 3D is newer technology they are still only using 2D for breast screening.

Thankfully, my sister had the lump successfully removed and is still going through her 2nd round of chemotherapy. Once completed both her chemo & radiation treatments she is planning to have a double mastectomy & reconstruction surgery to prevent the disease from ever returning. As for me, I will have monthly breast screening with my Specialist and I am on a cancer inhibitor drug called Exemestane - Exemestane decreases the amount of estrogen in the body and is essentially a drug I will take for the next 2 – 5 years, and then be guided by my Oncologist/Geneticist.  I am also booked in for a RRSO (Risk-reducing salpingo-oophorectomy) surgery before the year is out, to stop my risk of ovarian cancer.

The entire experience has made me want to advocate for greater clarity over genetic testing, and up-to-date breast screening.  Lots more work needs to be done and more hands-on information needs to be provided to those at risk. Additionally, 3D mammograms with an ultrasound need to be made more readily available.  The current standard biennial 2D mammogram breast screening is giving women a false sense of security.  We should have more up-to-date 3D mammograms (breast tomosynthesis) which is a three-dimensional picture of the breast and the findings are it is picking up 40% more breast cancers than regular 2D.  

My message to all women is - know your normal, know your body, and know your rights. Look at family history and repeat cancers. Speak to your G.P about genetic testing. Be proactive, not reactive. Have the necessary tests as it could save your life and/or that of loved ones. I will continue to advocate for all women to receive the care they deserve.