“Being honest is absolutely the kindest thing to be with your kids.”
When Simone learnt that stomach cancer on her father’s side of the family was linked to the rare CDH1 pathogenic variant (gene mutation), she faced decisions about testing, surgery and how to talk to her children about their genetic risk.
Simone’s uncle was the first sibling to be diagnosed with stomach cancer. After her father and another uncle passed away from the disease, her surviving uncle decided to look into the “weird pattern” in their family. Genetic testing revealed the CDH1 variant was present. Her aunt was then found to have early-stage stomach cancer. That meant four of five siblings had been diagnosed.
Sharing the risk
A family fallout some years earlier, resulted in Simone not being in contact with her uncle for some time. Recognising the significance of the information, he made contact and emphasised the importance for her to consider testing. Simone says she’ll be forever grateful that he got in touch. Not only was this potentially life saving information but is also mended the rift in the family
Regardless of your relationship, if you are aware of a common risk, I think there’s a duty of care to let people know about that risk. It’s so important to be able to share that with family members and let them know that there are choices for them to make.”
“That’s why these conversations can feel so hard. They may lead someone you love to make a life-changing decision while they are still well.”
When information leads to life-changing decisions
Simone tested positive for the CDH1 variant. She was told she had an 80% risk of stomach cancer, a 40% risk of lobular breast cancer, and that her children might also have the variant. Because early stomach cancer can be hard to detect and there was such a strong family history, doctors recommended a total gastrectomy.
Simone was 39 when she decided to have her stomach removed. “I think really the hardest thing about having prophylactic surgery is going into it being completely well and thinking, ‘gosh, I’m actually putting myself through major surgery.’”
After surgery, pathology tests detected minute pre gastric cancer cells. “It very much saved my life,” she says.
A few years after her total gastrectomy, Simone made the decision to also have a prophylactic double mastectomy to reduce her risk of breast cancer.
Talking to young children
Simone’s children were two and seven when she had surgery. “We had this very open family policy – there’s nothing you can't talk about. It is life changing. However, look at me. Life can be normal. Don’t be fearful of asking questions.”
She wasn’t always ready for their questions. One night, her older son asked, “So this stomach cancer thing, do I have a chance of getting it?” Simone says, “And it just threw me, because I wasn’t prepared for this question, I stumbled awfully with my answer.”
It was also hard for them to understand genetic risk, and easy to fill in the gaps themselves with the wrong information. When her youngest son was studying percentages in grade two, he came home and asked, “What percentage do I have of getting stomach cancer?” Simone told him, “It's a 50% chance that you might carry the gene, but this was difficult for him to understand the difference between having cancer and having a high risk of getting cancer.”
Looking back, she says there were times she tried to protect them from the truth. Now she believes it’s important not to say too much at once. “Saying less is best, just being honest and truthful and just giving one fact and allowing them to ask questions.”
She’s also realised that waiting for the perfect moment isn’t realistic. “I don’t really know if there’s any right time to have a conversation. It’s just actually starting the conversation.”
Different people, different responses
Families can share the same risk and still respond to it differently. “When I found out about my risk, my natural assumption was that everybody in the family would react the same way as me and want to get this done straight away,” Simone says. “But actually, that wasn’t the case at all.”
The same is true for conversations with children. “There’s no set answer. You can’t push somebody too much if they’re not ready. Letting people know that the door is always open to have that conversation is really important.”
When the conversation becomes your child’s reality
Years later, Simone’s eldest son tested positive for CDH1 at 18. A gastroscopy then found that he had early-stage stomach cancer. Their earlier conversations helped him understand his choices, and he had his stomach removed when he was 19.
For Simone, it was one of the hardest moments of all, seeing her “very pragmatic boy start to unravel”. He’s recovered well, and she says, “For him, it’s just, ‘well, let’s move on. Life is normal,’ and he feels relatively normal.”
Helping other families have the conversations
Simone struggled to find information to help her talk with her young children about genetic risk. She’s since worked with the Garvan Institute and Inherited Cancers Australia to refresh and redevelop resources for families having these conversations, including fact sheets for young people, small children and estranged relatives. These are available on the ICA Resource Centre.
Her advice now is simple and grounded. “Jump in on the front foot. It’s a really hard conversation, but it’s really necessary. And it’s also okay to say, ‘I don’t have all the answer to that, but let’s talk about it.’”