Kay is a force of nature. The 74 year-old former accountant, Girl Guides commissioner, Inner Wheel chair and hospital volunteer is almost too busy to be interviewed. From her rural property in Berwick, country Victoria, Kay summarises her life with Lynch syndrome succinctly and optimistically.
“Someone has to be the trailblazer in a Lynch syndrome family, and in mine, I suppose that person was me!”
It was the start of the 1990s, in the early days of Lynch syndrome diagnosis, that Kay was referred to Dr Finlay Macrae, in Melbourne, for genetic testing, after having bowel cancer in her early forties, followed by endometrial cancer in her early fifties.
As often in a Lynch syndrome family, the clear signs and cancer history were there. Kay’s mother died at 72 from her second bowel cancer, 42 years after recovering from ovarian cancer.
“Even by the ‘90s, the doctors just hadn’t made the connection between these two cancers, so my mum was never screened. No-one saw the pattern with me either until after my second time around the block.” But Kay soon made sure that her own children and other family members were well aware of the need to go for genetic counselling and testing.
Kay was grateful when she found out that she was the only one of four siblings to inherit the MLH1 mutation from her mum, but her own children and grandchildren have certainly felt the impact of their dubious inheritance.
When 20 year-old Caitlin, Kay’s granddaughter, decided to defer her genetic testing for a year or two, she didn’t realise her risk from Lynch syndrome was so imminent. At 23, Caitlin’s acute stomach pains were the first indications she had of her advanced stage bowel cancer. After a total colectomy (where the whole of the bowel is removed) and Lynch syndrome-appropriate chemotherapy, Caitlin has now been well for two years.
Although two of Kay’s daughters inherited the Lynch syndrome gene mutation, only one has had cancer.
“That’s the thing with Lynch syndrome,” explains Kay. ”It’s important to understand that it isn’t a cancer diagnosis, it’s an increased risk. It really doesn’t mean that you will definitely get or keep getting cancer throughout your life. Some people with Lynch syndrome can go their whole life, cancer-free.”
Nonetheless, no-one in Kay’s family takes this for granted. After three grandchildren were diagnosed with Lynch syndrome, they have turned their annual surveillance program into a family outing. Between them, the family has a screening regime made up of colonoscopy, endoscopy, abdominal and pelvic ultrasound and CA125 blood marker tests.
“There are three generations and we all head off to Melbourne together once a year. I suppose it’s a combination of mutual support and a great way to ensure that no-one ever misses even one appointment.”
And that’s just as well. After testing positive for Lynch syndrome, Kay’s grandson, Matthew, had his first colonoscopy at 19. Some sessile (flat) polyps were found and removed, before they had developed into something more sinister, so the family’s vigilance is paying off.
Although her Lynch syndrome diagnosis, when it came, didn’t alter Kay’s life, it did allow her to make different decisions along the way.
“I did cut back on red meat, on the advice of my doctors and have consciously limited my alcohol consumption. After my third cancer, I decided to take early retirement to reduce the stress in my life and to allow me to focus on the things I enjoy: my family, Inner Wheel, the Girl Guides and all of my volunteer endeavours.”
Living with Lynch syndrome has certainly provided its fair share of challenges to Kay’s family but, as she insists, if anyone has even the smallest suspicion that there may be an inherited link, they must act.
“Each of us has a responsibility to find out and to warn those we love. To do otherwise is to bury your head in the sand. And you certainly can’t see cancer coming that way!”
*At the time of writing, Kay was facing her next Lynch syndrome health challenge with her usual grace and optimism and we wish her good results and good health for the future.