Kim's Story | The letter that changed my world

26 Aug 2021

It was almost exactly 4 years to the day, after losing my Dad to a short, but aggressive fight with cancer, that I received a letter in 2019, from a paternal cousin that changed my world.

I was 45, married, a mother of 3 children and work in a Senior Management role. The letter was from Familial Cancer Specialists who had identified a gene fault called ATM in tissue taken from my cousin during her breast cancer surgery 6 years earlier. At the time of her surgery, she gave permission for her tissue to be used for research, probably never expecting to hear anything of it again.

My father died in 2015 at 69. It was a shocking and short 6 weeks from his diagnosis to his death. His body was plagued with cancer that had metastasized so aggressively it was too late to save him. His sister (my aunty), was diagnosed with breast cancer at just 29 back in the 1980s. Thankfully, she survived. My grandfather also passed away from Prostate Cancer at 73.

The letter from my cousin outlined a genetic condition, a mutation of the ATM gene. This gene fault occurs in less than 1% of the population and causes an increased risk of cancer, especially breast cancer in women (up to 52-69% increased risk). Both my aunty and cousin tested positive and now had answers as to why they had been diagnosed with breast cancer at such a young age.

After processing the letter and the enormity of its content, I had a decision to make. To get genetic testing or not? It was certainly a sucker-punch and not something I thought I’d be even thinking about so soon after losing my Dad. I couldn’t comprehend how I could be facing a cancer risk. I was terrified. I contacted my cousin who shared her experience with breast cancer. She was wonderful, positive and helped put me in the frame of mind of being ‘proactive’.

The genetic test was a simple blood test under the guidance of a Professor and Genetic Counsellor.  Together, they explained the ATM gene, its function, the statistics around the gene fault and the choices that may lay ahead. We talked through our family history and it was all mapped and documented. The biggest thing that stuck in my mind was the Professor looking at me and stating, “if you are positive, your chances of getting breast cancer will be like the flip of a coin”. Those words shook me to the core.

After a 6 week wait, my gut instinct was telling me I was positive – I was right. The result showed I was positive to the ATM gene mutation.

Whilst the Genetic Counsellor didn’t tell me I had cancer, she told me I’m extremely high risk. It’s a strange place to be. It’s frightening and confusing. I felt like a ticking bomb. My positive result completely changed my life.  I now carried a heaviness and an intense fear. I’d opened a can of worms and I couldn’t put the lid back on.

I knew I had to face my fear. I had a chance to do something, so I worked with the Professor and Genetic Counsellor on my options. They offered to ‘run my numbers’ to further calculate my individual risk. I decided not to do this. I asked if the risk percentage would be lower. They said ‘no’. I knew enough, a more than 1 in 2 risk was confronting enough. I didn’t need the agony of that number increasing further. I knew from there surgery was the best prevention.

I found an experienced Breast Specialist who specialises in oncoplastic breast surgery at the wonderful Chris O’Brien Lifehouse in Sydney. His approach was to ensure the best outcome to reduce my risk and also give me the best cosmetic result he could. I asked him outright if preventative surgery was the best option. His answer was a very firm ‘yes’ and he arranged an MRI, which thankfully turned out to be clear.

Waiting for the MRI result filled me with anxiety. I didn’t think I could live with the anxiety of constant scanning. It was a heavy weight to carry. I didn’t want to get cancer like my Dad.

My MRI result was normal. I cried with relief… but the heaviness remained. Would I be so lucky next time?

Making the decision to proceed with preventative surgery was a no brainer for me. My decision was largely made for my 3 children and my husband supported me. I wanted to show my kids, and help them understand, that the gene fault could be proactively dealt with.

I did a lot of research and discovered most of the support services are for women who already have cancer. You don’t want to burden services for women who are fighting this disease, yet you need help so you can try and prevent getting it too. It’s a difficult place to be and it’s quite lonely.

I reached out to a friend of a friend, who is a Pink Hope Ambassador and who was going through her own breast cancer journey. She shared her story with me and it was confronting. My cousin also gave me lots of advice. I’m so grateful to both these ladies. I joined a few forums too, including Pink Hope via Facebook, where ladies bravely share their stories, photos and offer support. All this information helped prepare me for the enormity of the surgery. Knowledge really is power.

My Prophylactic Double Mastectomy was 4 weeks after my follow up MRI appointment with my specialist.  He advised me I would need two operations. The first surgery involved a breast reduction, which meant removal and reattachment of my nipples, mastectomy and insertion of tissue expanders to ensure my breasts were ready for the final implants. The second surgery, 12 weeks later, would remove the tissue expanders in exchange for silicone implants with fat grafting to help ensure a natural result.

In the weeks leading up to my surgery I prepared as best as I could. I have always exercised, so I increased my training. I did more Yoga, more walks, runs, rowing and weights. I ate well and stopped drinking alcohol.

My young daughter was really struggling with me leaving to go away to hospital for 7 days. She also remembered my Dad going to hospital with cancer and never coming home. It was a very emotional time with her. A friend who is a Psychologist helped us by doing Rainbow Therapy. It helped connect us through the colours of the rainbow. I’d recommend this to anyone with small children.

On the day of my surgery I surprised myself at how calm I was. My brother came to support my husband while I was in surgery. The surgery, scheduled for four hours, took six because my surgeon was meticulous. I woke up really well in recovery and looked down to see that I still had boobs! Although much smaller than the ones I went in with. It truly is a big operation however I wasn’t in any pain and things had gone well. I managed tubes, drains and wires for a couple of weeks with the help of home visits from wonderful Breast Care Nurses.

The best news came two days after surgery. My pathology results were clear. No cancerous cells. I was so relieved I had successfully reduced my breast cancer risk by 95%. About three months after my mastectomy, I was back in surgery to exchange tissue expanders for implants and have fat grafting.

The surgery was never about cosmetics for me, it was to hopefully save my life. The wonderful result I have is because of the skill and care of the surgeon. I was prepared to do whatever it took to reduce my risk. If that meant going flat, losing my nipples and all sensation, then I was prepared for it all. I just didn’t want to get breast cancer. Remarkably, my surgeon managed to re-establish blood flow and maintain feeling in both my breasts, something I was prepared to live without. I have told him numerous times, he’s a magician!

I am incredibly grateful to my cousin, if she hadn’t allowed her breast tissue to be used for research, I would have never found out about my positive ATM genetic fault. Thanks to her we also now have answers about my Dad’s cancer – because I’m ATM positive he would have been too. Familial Cancer impacts multiple generations in one family, it’s so important to undergo genetic testing if you can see a pattern of cancer in your family. It is without question confronting, but ultimately the information you receive could help change the course of your future or the future of your children and their children.

Throughout this journey, I’ve learned I can face my fears and I can count on my own strength and courage.  I am braver than I ever thought I was. The biggest impact though was from all the people who are brave enough to tell their story. I have benefited by reading many. It truly helps to give insight, support and courage. I hope in sharing my own, I am able to pay it forward.

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