My name is Deb and this is my story.
Firstly this is a long one but felt I had to explain it all, in my family we have lived with the big ‘C’ most of our life, for our family it seemed someone being diagnosed with cancer was normal. When I was 8 my ‘OPA’ (mums father) died of stomach/bowel cancer, at 13 my mums sister ‘B’ died of bowel cancer aged 53.
Then in October 2004 nine months after the birth of my first child, everything got more real for us, my mother was diagnosed with ovarian cancer aged 58, that required immediate attention, living in regional area she was shipped off to Melbourne for surgery, the day she went to theatre was one of the longest days for my dad, myself and my 3 sisters. Then the news that we didn’t want to hear the tumour was inoperable, tissue sections determined it was stage 4 and chemo was the only option. Due to previous family history this was when genetic screening started. Mum made it through her chemo well it did what it needed to and that was shrink the tumour, due to such a great response they chose not to go back in and operate i.e. perform hysterectomy etc. So it seemed for us it was going to be a constant wait and see after every check-up ca125 levels became common discussion. Genetic test proved pointless constantly saying no gene found but consider screening process and treat as if there is a gene mutation.
Six months later mum other sister ‘M’ (twin of the aunt that had already passed) then told us of a lump in her breast when aged 65 we were not surprised luckily it was very early in detection and surgery was enough treatment. To me this would or should have been the time for the genetic group to consider testing for the BRCA genes but it seems genetically family past history was blurring the path to investigate. My cousin ‘MM’ (daughter to ‘B’) got the diagnosis of ovarian cancer aged 40. For mum’s side of the family it was now becoming a matter of who would be next. And still genetic testing proved futile.
Well we didn’t think a new primary cancer would be discovered in members already battling but that’s what happened firstly Aunt M was diagnosed with bowel cancer in 2009 this prompted everyone over 30 to start bowel cancer screening (colonoscopies are now a part of life), then in Jan 2010 just after my mum had got the five years all clear she had a pap smear done which found abnormalities which resulted in another quick hike to Melbourne, this time for the total hysterectomy and ovary removal. Now despite blood tests saying otherwise, tissue reports determined not only was there a new primary endometrial cancer but mums ovarian cancer was beginning to start up again. After surgery it was decided to treat the cancer that was greatest threat to mum so back to ovarian cancer chemo course, the endometrial cancer was early stage and less likely to cause a problem.
Again mum responded well to chemo, M though had a body now riddle with cancer and was destined to stay on chemo for the rest of her life, so our family continued forward my sisters and I set in place with our respective GPs a plan to do internal ultrasounds and ca125 levels yearly. Then in April 2011 my older sister ‘DL’ aged 37 after over a month of pushing from myself and mum was diagnosed with ovarian cancer. Surgery was done again in Melbourne at the Mercy for Women’s. Diagnosis of stage 4 in old scale think it’s now stage 3.3 in new grading terms either way its final stage ovarian, scans proved to be almost identical to mums it was at this time that the concept of the genetic link was again raised.
So after encouragement from both DL and M, my mum agreed to again go down the path of genetic testing on the condition it would be the last time we did this because being told there was no gene mutation was taking its toll. In June 2011 it was revealed that previous tests had finally isolated a gene mutation, Mum carried the BRCA1 gene fault, DL and M were now to be tested again. For us this was it, finally an answer. Cousin MM was informed and now in her third relapse she would consider tests to determine if she also had the gene mutation at a later date (her mother had already passed so she was entitled to test straight away). Sept 2011 I attended the genetic appointment with mum, DL and M, it was revealed that not only mum but DL had the BRAC1 gene fault but M did not. Unfortunately for us the genetic group believe that not only do some of us have the BRCA1 gene fault but we also have Lynch syndrome which explains the bowel and other cancers in our family.
So I decided at this appointment to get tested, Dec 2nd accompanied by my partner, is a day I won’t forget in a long time despite my happiness for my sister the day before, it seemed that it had increased my odds of the words I was about to hear “I am sorry to tell you but you are POSITIVE for the BRCA1 gene mutation”. It was like I had been punched in the chest, my partner of two and half years and I had discussed no more children I had three from a previous relationship, and he had one but the reality was that choice was no longer ours. In the meantime I had two other sisters to be tested one has come back negative but told to consider oophorectomy at 40 regardless, the other is positive and her choice is much harder as she hasn’t had her family yet. And she turns 34 this year and at this stage is not going to do anything but monitor.
However my struggle with my choice soon seemed irrelevant as the news of my cousin M passing came through on Dec 7th, aged 46 leaving behind to daughters aged 16 and 14 made me realise I have a choice I can take control and try and stop this. I may even be a source of hope and support for my cousins children should they choose to get tested once of age, a person to offer advice may be of benefit.
At this stage although the risk breast cancer is very real I am in the frame of mind that it’s much easier to monitor and will start with that process. April 17th 2012 I had my oophorectomy and hysterectomy and truly in the past four weeks feel better than I have in a long time. I am on HRT oestrogen only and as such yet to experience that what I fear most menopause at age 35.
Our families battles have shown me there is only one way in life be positive and keep moving forward, for some life has been too short and now my threats have been reduced I can again begin living without a big grey cloud, it’s now been reduced in size somewhat.