When Amy* saw a worrying pattern in her children’s whakapapa, she knew she had to advocate on behalf of her young boys to break a long pattern of hereditary diffuse type gastric cancer (HDGC). Caused by a genetic mutation in the CDH1 gene, HDGC if left, has an 80% chance of developing into stomach cancer. For those who are positive for the mutation, regular screening is required and often results in a gastrectomy (removal of stomach) when cancer cells are first detected.  

The genetic mutation is prevalent in whānau Māori and when there is a familial link established, testing and then regular screening if positive is recommended for whānau. 

The boy’s paternal side had had several incidences of stomach cancer. Amy wanted reassurance for her sons, so she started investigating how to get answers for them.  

The guidelines at the time said that testing couldn’t be done until 16 but Amy’s eldest son, Connor* was asking to be tested from 11 years old. She was up against outdated guidelines but was determined to help her boys get the testing they wanted. She engaged the help of a pediatrician and Dr Parry Guilford who led the team who discovered the CDH1 mutation and its impact of whānau Māori. With letters of support, she was able to dispute the guidelines and get Connor tested at 14. He was positive for the mutation, so a gastroscopy followed and showed cancer. A short 8 weeks later, a gastrectomy was performed and paved the way for her two younger boys, Jake* and Dylan* to be tested at 13 and 11 years old. Jake was positive and Dylan was negative for the genetic mutation. Almost a year to the day, Jake had a gastrectomy after cancer was detected. 

Connor and Jake are now adjusting to life after surgery and a tough recovery. While they don’t want to be in the spotlight, Amy is sharing their story so that any whānau Māori with patterns of stomach cancer in their whakapapa can be empowered to push or testing for their Tamariki at a time that is right for them. 

In March, Amy took part in GIVE IT UP for Gut Cancer, raising over $1000 for Gut Cancer Foundation to raise awareness of HDGC.  

For more information on HDGC visit https://www.gutcancer.org.nz/hereditary-stomach-cancer/