Wayne Smith was 39 when a blood test confirmed he had inherited a deadly gene that causes bowel cancer.
A month later, in time for his 40th birthday, Smith had lost 6kg and was "going downhill fast" when doctors discovered he already had the cancer and it was advanced.
"I had my operation on my wife's 40th birthday, on January 22."
That was 17 years ago and Smith went through 40 weeks of chemotherapy and 35 weeks of radiation to beat the cancer which had broken through the wall of his large bowel and was metastasising in the pelvis.
"Technically I should be dead."
The semi-retired Manurewa father has Familial Adenomatous Polyposis [FAP], a genetic condition that increases his chances of developing colorectal [bowel] cancer, and cancer in surrounding organs including the pancreas, stomach and small intestine.
Wayne Smith's family has a gene that causes hereditary bowel cancer. He urges anybody with a family history of bowel cancer to get checked. Photo / Supplied
FAP is diagnosed when a person develops more than 100 adenomatous colon polyps. An adenomatous polyp is an area where normal cells that line the inside of a person's colon form a mass on the inside of the intestinal tract.
Smith had most of his bowel removed and was given a colostomy bag, but said he was first aware of symptoms in his early 30s.
"There was intermittent bleeding, pain in the bowel, soft stools, and I was never constipated. It was the opposite problem."
Smith's mother had FAP as well as his older sister. But a middle brother did not.
"You've got about a 50-50 chance of getting it."
He was checked over as a teenager but didn't like "having someone looking up your bum" and never went back until his wife became concerned.
"My mother and sister wanted me to get tested for the gene. It was only pressure from my wife that made me do it and it was probably my wife that saved my life to be honest."
Of his three children, only one son has the gene and the 36-year-old already had most of his large intestine removed as a precaution at age 19.
Both he and Smith have regular 6-monthly to annual check-ups including colonoscopies and endoscopies.
Smith also has a nephew with the gene and his two infant grandchildren will need to be tested when they are older.
"I think everybody should be going for screening just to check out to make sure you're healthy."
Smith believes if he'd been checked sooner he might have avoided the gruelling chemotherapy and radiation he had to go through.
"But I was busy working and not looking at myself. I thought if I can't work who will look after my kids but my wife made me realise if I wasn't around then who would look after my family."
World experts on hereditary bowel cancer have gathered in Auckland this week to discuss the field of familial gastrointestinal cancers.
Researchers from the United Kingdom, United States, Asia and Australasia will share results from the latest international trials highlighting promising new discoveries and treatments for patients with hereditary bowel cancer, at the 8th International Society for Gastrointestinal Hereditary Tumours [inSiGHT] Scientific Meeting.
Chair of inSiGHT, New Zealand gastroenterologist Associate Professor Susan Parry, said about 5 per cent of all bowel cancers were caused by familial bowel cancer syndromes.
"Individuals with familial bowel cancer have a much higher chance than the average person in developing bowel cancer because of an inherited genetic abnormality," Parry said.
"However, they may not be aware of this and it's often not diagnosed early enough. This conference will hopefully save lives."
She said it was important for everyone to check their family history and discuss it with their doctor if a number of family members had been affected.
Specialised services such as the New Zealand Familial Gastrointestinal Service [NZFGICS], a multi-disciplinary, Ministry of Health-funded service [established in 2009] play an important role in assessing patients and families who may be at increased risk of familial bowel cancer.
The NZFGICS receives around 1700 referrals each year of which 1215 families are identified as requiring follow-up.
"It's vital that we do all we can to help identify patients with this hereditary form of bowel cancer and have them referred for timely assessment," Parry said.
"This conference will help raise awareness and education among health professionals and also assist our service in delivering the very best treatment and information to patients here."
Among the keynote speakers is world-renowned UK geneticist Professor Sir John Burn who led the landmark international study that discovered aspirin lowers the risk of patients developing a familial form of bowel cancer called Lynch Syndrome.
The inherited condition considered to affect one in 200-300 people and is diagnosed at a young age, increases the risk of colorectal and other cancers.
