From adversity to advocacy – beyond triple Negative breast cancer and BRCA1 gene mutation diagnosis

Sarah's Story

Sarah's Story

20 Aug 2024

At just 29 years old, Sarah was enjoying a holiday in Thailand when she discovered a small lump in her breast. Though her GP initially thought she was too young to have cancer, given her lack of family history, they still arranged an ultrasound. Unfortunately, the results confirmed that Sarah had triple-negative breast cancer. 

Navigating treatment and initial challenges

Triple-negative breast cancer affects predominantly younger women and is the most aggressive type of breast cancer. It can have poorer outcomes, particularly as there were no targeted treatment options for this type of breast cancer at the time.  

After the diagnosis, what followed was a whirlwind of surgery, chemotherapy and radiation. Being so young when she was diagnosed, she remembers feeling confident and perhaps a little naïve as to how serious the situation was,

“During that time, I remember being annoyed at how inconvenient it all was, losing my hair and being tired a lot.” 

A surprising turn of events

Before starting her treatment, she decided to undergo IVF to protect her fertility. Sarah’s story took a turn only a few weeks after finishing treatment – she found out she had fallen pregnant naturally. This news took everyone by surprise, including her oncologist.  

“My oncologist had told me not to get pregnant for at least 5 years, due to the risk of recurrence. When I told him, I felt like a teenager telling their dad they are pregnant!” 

Discovering BRCA and its life-changing implications

Her desire to start a family had even bigger implications than she imagined. Throughout her treatment, she was often asked if she had a family history of cancer, and her answer was always no. It never occurred to her that her cancer might be hereditary even with no family history of the disease. 

When her daughter was six months old, Sarah read about the higher prevalence of genetic mutations like BRCA among Ashkenazi Jewish people. This led her to seek genetic counselling and testing at Peter MacCallum Cancer Centre in Melbourne, where she discovered she has a BRCA1 gene mutation. 

This changed things dramatically for Sarah, suddenly her cancer didn’t end with her anymore. She had this beautiful baby girl and all she could think was, “I might have given this to her.” What she initially saw as a blessing now came with added concerns for her daughter's future. 

Tough choices and complications

Apart from the family implications, Sarah also had life-changing decisions to make about her own health. As the tumour was so small when she was diagnosed, she only had a lumpectomy. “I feel crazy saying this while looking back now, but I decided at that time I would just continue with screening every six months.” 

At her next check-up, they found a lump that needed to be biopsied and while she waited for the results, she decided it was time to get a mastectomy. 

“I was a ticking time-bomb, just waiting to get cancer again.” 

The surgery was complicated because Sarah had previously undergone radiation. This meant that for her reconstruction with implants, her latissimus dorsi muscle had to be taken from her back and attached to her chest to support the implant. She was in hospital for five days and had to go back for a small infection. 

Over time, her initial implants had significant rippling and didn’t sit correctly, requiring two revision surgeries to fix them. Two years ago, she had to replace her implants because they were micro-textured, and one had ruptured. 

Balancing family planning and cancer risk 

After dealing with the complications with her mastectomy and reconstruction, Sarah faced another challenging decision between managing her risk of ovarian cancer and her family planning.  

The advice at that time was to remove her ovaries and fallopian tubes before she was 40, but she knew she wanted another baby. It wasn’t quite as easy this time, there were a few failed attempts at using her frozen embryos. She fell pregnant naturally, a wonderful surprise after the challenges she had faced. 

“I honestly thought it would never happen; both of my children are miracles after what my body has been through.” 

Giving back to the community

Sarah found our organisation when she learned about her BRCA1 gene mutation. For Sarah, the need for support was so much greater once she found out about her genetic predisposition to cancer, even more so than when she was going through cancer treatment. She desperately needed to connect with other women who understood the challenges of decision-making and family conversations related to hereditary cancer and its risks.   

This created a strong desire in her to support us in any way she could. She started a fun run called Run for Hope which ran for 6 years and raised over $100,000. In 2020, when the founder of Pink Hope stepped down as CEO, Sarah was nominated for the role, and she decided to take over in August of that year.

“I couldn’t imagine a more fulfilling and meaningful job than this. Of course, it’s personal for me, but I want to make a difference for every family like mine,” she shares.

Empowering the next generation

Today, Sarah is nearly 18 years cancer-free and cherishing life with her children. Her family and friends have been deeply involved in her fundraising and advocacy efforts, especially her daughter. The beautiful baby girl from Sarah’s story is now almost 17 and approaching the age when genetic testing might be considered. Sarah’s work in the hereditary cancer space has prompted many questions from her daughter about the importance of this cause. 

“I have always been honest with my daughter about my genetic mutation and breast cancer diagnosis – albeit in an age-appropriate way. She is aware that she has a 50% chance of inheriting the gene mutation.” 

“I tell her about all the advancements and changes since I was diagnosed. She knows that there will be plenty of support and potentially different options for her if it comes to that. Hopefully, by that time, she will be in a better position and more well-informed than I was.”