My first memory was visiting my mother in hospital after she had had surgery for breast cancer when I was 2 years old.

I also remember being minded by my grand parents at this time and dad bringing me a 2^nd birthday present- a shape sorter in the shape of a red British post box. My mother underwent a radical mastectomy in the left breast including the removal of the lymph nodes and radiation treatment which my mother thought was overkill at the time but she survived. Other relatives who had only partial mastectomies or lumpectomies unfortunately didn’t survive.

There was no such thing as reconstruction in the days of my mother’s surgery and thus my mother wore a permanent prosthesis after her surgery and she had a lymphodema problem with her left arm also. She also suffered from bouts of cellulitis. However this was only a small price to pay-she had a radical mastectomy and she survived.

All throughout my childhood my mother she was a picture of health after the breast surgery. She didn’t smoke, she didn’t drink, she had an excellent diet and she took bucket loads of vitamin pills. She had beaten the cancer- however there was another cancer we all hadn’t considered.

-Ovarian cancer.

In May 1991 my mother was admitted to hospital for tests. She was upstairs in the same hospital when I gave birth to my daughter Jacqui on the 16^th May 1991.  I wasn’t told what was wrong with her but I guessed things were not good with her especially when one of my visitors let slip about the “cancer cells” L

My mother went downhill very quickly and I was eventually told it was ovarian cancer. She was treated with a drug called Tamoxifen and although she lost a lot of weight I didn’t think she would die- everyone thinks their mother is immortal. I had organized to collect my mother for some Christmas shopping with 7 month old Jacqui on the Tues17^th Dec.

I saw mum on the weekend before and her leg was very swollen up but unfortunately mum did not consider this serious and she didn’t see a doctor. She rang me on the Monday to say her leg was very swollen and was not up to the Xas shopping trip. The phone call was interrupted by a real estate agent meeting- we wear planning to move.  I told my mother I would ring her back and I hung up. Unfortunately due to the chaotic life as a mother of a 7 month old – I didn’t get time.

I received a call in the morning to say that she had passed away. She had suffered a pulmonary embolism caused they believe by the drug Tamoxifen which she was taking for the ovarian cancer. So on the 17^th Dec 1991, one week before Xmas I lost my mother.

My 7 month old daughter never knew her grandmother. The BRCA 1 gene was not known then but my mother carried it and passed it on to me.

It appears a number of her sisters and brothers had the BRCA1 gene as several of them died from breast and ovarian cancer and numerous cousins have tested positive to the same genetic mutation. My mother’s sister Margaret developed breast cancer in both breasts when I was 11. She became very sick whilst overseas at a physiotherapy conference.

She was hospitalized in London and they advised to travel home for treatment as soon as possible. They didn’t tell her the bad news but I’m pretty sure they knew. She had emergency surgery the day after she arrived home but unfortunately it was found that she had bilateral breast cancer that had spread to her liver. She was in so much pain- it was obvious the suffering she was going through. She was unable to keep food down and she lost a massive amount of weight overnight. She was a tall strong big boned woman who faded away overnight to a shadow of what she was.

To see this happen to your favourite aunt as an 11 year old is very traumatic. She passed away less than 3 months after the surgery.  Another one of my mother’s sister’s Barbara developed breast cancer whilst her youngest child was still a baby. She battled this cancer for 3 years before it eventually spread to her lungs and she passed away leaving 6 children without a mother and a husband who was a very well known Federal Senator in Tasmania.

 Mary, another one of my mother’s sister’s became sick quite suddenly in May 2003.  She was suffering from severe stomach pain and bloating and I was alarmed the pain she was in when she turned up as Jacqui’s sponsor for her Confirmation that month.

Unfortunately tests confirmed that it was ovarian cancer and she too went downhill very suddenly. She passed away in February 2004 after battling it like a warrior. Auntie Mary was a very strong woman who rode horses and taught horse riding for a living.

The gene mutation has permeated my generation as well.

In 1993, Marianne a first cousin and daughter of one of my mother’s surviving sisters developed breast cancer as a 34 year old. She was breast feeding at the time and the doctor’s told her it was just a blocked duct and not to worry. It therefore went undetected for quite a while and when it was finally detected it had already spread. Marianne had surgery and chemo treatment and we thought that maybe she had beaten the cancer. However she went downhill suddenly in August 1998 and passed away leaving 3 small children.

Marianne could not have had the BRCA 1 gene however as her mother Auntie Cath- another of my mother’s sisters tested negative to the BRCA1 and 2 genes last year. So maybe there is yet another gene mutation in our family that is unknown.

In the same week that Marianne died, Gemma another cousin who was 34 at the time was diagnosed with breast cancer. She was the eldest daughter of my Aunt Barbara my mother’s sister that had died of cancer earlier. Gemma has been tested for the BRCA gene mutation and tested positive to the same BRCA 1 gene mutation as me. Gemma has survived this cancer and is cancer free 13 years later. Her sister Mary developed a very aggressive form of breast cancer in 2008 as a 42 year old. She had a bilateral mastectomy at the time and she too is cancer free. Mary has the same gene mutation as Gemma and I – BRCA 1 (69_69del/185 del AG) and my blood test was matched with Mary’s to obtain the positive result.

2 of Gemma and Mary’s brother’s have also tested positive to the same BRCA 1 gene mutation. This founder mutation is the same mutation that my mother and Auntie Barb had. It is quite probable that Auntie Marg and Auntie Mary had this mutation as well. In 2005 another cousin, Linda developed breast cancer also at the age of 42.

When they did a preventative hysterectomy they found that she also had ovarian cancer as well. Luckily Linda’s story has a happy ending as she has survived and she is now the picture of health. What is interesting is that Linda tested negative to both the BRCA 1 and 2 genes.

I too carry the BRCA 1 gene mutation. The mutation that has been found in our family is one of the founder mutations- the 68_69del AG/185delAG mutation, one of the original mutations that has been traced back 2000 years.I first discovered a breast lump in my early 20s and was referred to a specialist at the time. The report from the mammogram noted that I had “dense breasts predisposed to breast cancer” so I knew from then onwards that maybe all of the cancer in the family was no accident.

I have since had so many mammograms I have lost count and biopsies as well due to the dense breast tissue. Luckily all the lumps/changes have been benign but every time you get the call to come in again because they “think they have found something” there is the fear every time.

I knew from the extent of the cancer in the family that there must be a genetic link but it was not until March 2010 that I had the gene test at Genetics WA as they were able to cross match my blood test with my cousins who tested positive to the BRCA1 gene. The result came back positive in May 2010- perfect match for the DNA and gene mutation L

It is one thing to suspect you have a genetic mutation and another to actually see a positive result on a piece of paper- I was shocked because my risk of cancer had suddenly skyrocketed. The chance of getting breast and ovarian cancer with the BRCA mutation is around 85-90% in one’s lifetime which is a frightening prospect.

Do I wait around and see if I am one of the lucky 10-15% or do I have preventative surgery to reduce my risk? My gynaecological oncologist recommended a total hysterectomy and removal of the ovaries immediately so I was scheduled for surgery in July 2010.

This was done laproscopically and luckily I have had no symptoms of menopause at all.I think even I was surprised how I recovered from this surgery so well. Especially as I had and still have multiple injuries from a work accident in 2009. I am a professional cellist and cello teacher andI fell down a flight of stairs at one of my schools with my cello landing on my left outstretched arm and the left side of my neck- cello survived luckily J

However I sustained blunt trauma to the ulnar nerve in the left arm, a fractured elbow, a fractured ankle, a dislocated kneecap, an injured shoulder and a neck injury. I had surgery for the nerve injury in November 2010, surgery for the shoulder earlier this year and surgery on the neck in May this year. The kneecap needs constant strapping and the ankle is currently undergoing further treatment as well. I am still recovering from this accident. The blunt trauma to the nerve has caused me to lose the function of the 4^th and 5^th fingers of the left hand and also the left hand thumb.

This has been absolutely devastating as a cellist as the cello has been a lifetime’s passion and I have been told by doctor’s I will never play again- but I would like to prove them wrong on that. It has brought an abrupt end to my teaching career which I also loved doing. So to test positive to the BRCA gene at the same time as all of this was unfortunate but it was because I was being so closely monitored medically that the family history of cancer was discovered and I was sent to Genetics WA so maybe there was a silver lining from the accident after all.

I am scheduled for the prophylactic bilateral mastectomy on November 24^th this year with immediate reconstruction with expander/implants.

I am going to one of the first 10 people in the world to test a new air expander that my plastic surgeon is testing. This means no injections with fills and no regular doctor’s visits. I just pump it up myself 3 times a day in the comfort of my own home. The device only lets you pump it up 3 times a day- so you can’t keep pumping till you look like Dolly Parton J It will be exciting taking part in this trial.

Only thing not allowed is air travel as it affects the air expanders but I’m sure I can cope with that limitation. Even with both lot of preventative surgery my risk of cancer will not have been eliminated but it will be very low and lower than the general population and given the risk I face at the moment- it is worth the surgery.

What does concern me is whether I have passed the gene on to Jacqui who has just turned 20 and Charlie my 17 year old son. Neither of them have been tested yet but I am keeping my fingers crossed that hopefully I miraculously didn’t pass the gene on to either of them. If I have passed the gene on – they live in an age where they can defy their destiny.

We are very blessed to live in these modern times.