"More cancer prevention research means my daughter could have choices I didn't"- Nicky's experience

Nicky Tschumi-Leake, from Doncaster, thought she would never unlock the mystery of her family’s history with cancer. When her mum sadly passed away from breast and ovarian cancer in 2006, the diagnostic tests needed to identify a genetic link were not widely available.

Yet, a decade later, Nicky found herself having intense preventative surgery after DNA testing discovered she had inherited a faulty BRCA gene - and a very high risk of developing cancer alongside it.

Now, as seven leading UK cancer charities unite to call for research into the potential of PARP inhibitors as a risk-reducing treatment for people with faulty BRCA genes, Nicky is lending her voice to the campaign, helping to shape a better future for her daughter. 

For some, getting older is not met with enthusiasm. But Nicky, who’s now 51, remarked how significant it is for her to reach that milestone.

“My mum died when she was 56, and my grandmother was 44. I’ve lost other women in my family around this age too; our whole female line was practically wiped out due to breast and ovarian cancers. The fact I’m standing here now isn’t lost on me.”

Nicky lived under the shadow of her family’s strong history with cancer for years.

“In 2006, I was told I could only be tested for faulty BRCA genes if I had a living relative with cancer who had also tested positive for the genetic fault. We weren’t able to provide that because my family members had passed away before they could be checked.” Nicky explained. “It didn’t take a rocket scientist to work out something was wrong, but no one flagged that there might be a problem. I just had to accept that I wouldn’t ever know.”  

It’s estimated 1 in 400 people in the UK carry a faulty BRCA gene, a genetic change that significantly increases a person’s chances of getting certain types of cancer, like breast, ovarian, prostate and pancreatic cancer. However, a high proportion of these people are unaware of it. 

In 2017, after voicing these concerns to her GP, Nicky’s blood was tested for genetic faults. The results revealed she had an 89% lifetime risk of developing breast cancer due to a faulty BRCA1 gene.  

Nicky said: “The results didn’t come as a surprise, and from there I instantly went into survival mode. I did what I could with the clinical information I was given, so I just went for the treatment with the fastest recovery time.”

Faced with limited choices, Nicky had a double mastectomy to remove her breasts in 2018. This surgery significantly lowers the risk of breast cancer developing by about 95%.

Nicky also underwent another operation to remove her ovaries and fallopian tubes. Research shows that this surgery also reduces the risk of ovarian cancer by 95%. 

“Going through such big operations is a bit like being thrown in the wash and then pulled into a different shape,” Nicky described. “It not only physically alters you, but it impacts the trust you have in your body and how you feel about your relationships.”

Currently, some people with faulty BRCA genes like Nicky are offered risk-reducing surgery, regular screening, or medications like Tamoxifen. But these methods aren’t suitable for everyone, particularly men, and they can be life-changing or emotionally challenging.  

Research has shown that PARP inhibitors, drugs already used to treat cancer, have the potential to reduce the risk of someone with breast cancer with a faulty BRCA gene developing a new cancer in the future. Seven leading UK cancer charities, including Yorkshire Cancer Research, are currently calling for new early-stage studies and clinical trials to investigate how PARP inhibitors could be used to reduce the risk of cancer for people at high genetic risk.  

Nicky said: “I don’t regret my decision. However, if there was the offer of a different route, one where I took medication to manage the risk and then had my condition monitored, I would have considered it, 100%. There’s got to be a better way forward, and that answer could be found in PARP inhibitors.”

Nicky is especially keen to see developments in genetic testing and treatment for her daughter, who is now 21.

“When I was first told the news of my cancer risk, I was instantly struck with fear for my family members. For many people, their faulty gene is only discovered when they fall ill with cancer. But if you know the facts, you can do something about it.

“I know a genetic screening programme would have made the journey I went through a lot easier, and it’s worrying to think how my daughter would have been completely in the dark about a potential risk if I hadn’t been tested. At least now though, it’s on her radar,” Nicky continued.

Nicky, who works as a self-employed Leadership and Management End Point Assessor, is now finding ways to raise awareness of hereditary cancers through community outreach. Specifically, she highlights the lack of mental health support for people navigating genetic risk and preventative decisions.

“What I’ve experienced has taken a long time to process. Even years later, I’m still not the same person. I don’t think I ever will be,” Nicky admitted. “There’s the guilt you feel of being a ‘previvor’, of being the one to live while your family and so many others have been through difficult diagnoses and treatments.

“When you’re told you have a faulty BRCA gene, you’re given a leaflet, but no one ever follows up. We separate the head from the rest of the body. Mental health has to be part and parcel of cancer prevention.”

Originally from Switzerland, Nicky moved to Yorkshire 28 years ago after meeting her husband, Trevor. 

She said: “Trevor’s a proper Yorkshireman, and he’s introduced me to lots of pretty places in the countryside and along the coast. I do love it here, so it was shocking to find out how cancer outcomes are worse in our region than in other places across the country."

Alongside advocating for more investment in healthcare for Yorkshire, Nicky is a trauma-informed cancer support coach. 

“I keep up to date with BRCA+ related progress, and that’s exciting, because it shows how quickly the research is moving forward. Just how technology has transformed in the twenty years following my mum’s cancer, there’s always something new on the horizon.” 

When asked for her final thoughts on the call for PARP inhibitor research, Nicky concluded: “It fills me with trust and hope that so many charities are coming together and putting their heart and soul into finding a solution. The more people involved, the better. Let’s drive this thing.”