In 1994, when he was just 18, Mauro came to Mount Sinai for the first of many gastrointestinal surgeries. His older brother, afflicted with the same genetic condition that caused a proliferation of polyps throughout the colon, had the same surgery just days before him, and was healed and home within a couple of weeks. Mauro was not so lucky.
For six months following his surgery, Mauro battled a series of complications and infections. Mauro’s mother spent every day at the hospital with him and slept on a cot in his room every night, and his Italian family brought him home-cooked meals — “I remember my aunt sneaking me tiramisu,” Mauro recalls — to keep him well fed.
Such loyalty runs strong in Mauro’s family; unfortunately, so does a rare, hereditary condition called Familial Adenomatous Polyposis (FAP), which is caused by a mutation in the APC gene. FAP causes hundreds of polyps to develop in the colon and rectum, and without treatment these can lead to colorectal cancer. FAP is the second most common hereditary colorectal cancer in Canada, accounting for approximately one per cent of all colorectal cancers. Despite its rarity, the genetic mutation is so penetrant that nearly 100 per cent of those who have FAP will go on to develop features of the disease.
Mauro’s paternal grandmother was the first to have FAP, and the condition was passed on through the following generations. Many of Mauro's affected family members, including his father, have been cared for at Mount Sinai, which houses Canada’s largest program in hereditary colorectal cancers in the Zane Cohen Centre for Digestive Diseases (ZCC).
“Our relationship to Mount Sinai is really a family affair,” says Mauro.
Care for life
When Mauro and his brother came under the care of Dr. Zane Cohen, director of the ZCC, both brothers had polyps, a precursor to colon cancer, throughout their large intestines. Dr. Cohen performed surgery to remove the intestine and replace it with an internal pouch, a major improvement over external ileostomy pouches — which their father, who was treated at Mount Sinai in the mid-1970s, had received. Two new shapes of internal pouches were being used at the time, and each brother received a different type. Mauro’s brother received the J-pouch, now the standard of care; Mauro received the more complicated S-pouch.
Following surgery, Mauro experienced unexplained fevers that led to a full-blown infection, and Dr. Cohen and his team were relentless in searching for the cause. They identified a small leak in the pouch, but could not operate until Mauro was strong enough to endure a second surgery; it took eight months. By the time he’d fully recovered, he had missed a year of school.
“Throughout my experience, Dr. Cohen and the staff and residents were phenomenal,” recalls Mauro. “Mount Sinai is caring like you wouldn’t believe. Even when he was away on vacation Dr. Cohen would make a point of calling to check in on me.”
In the two decades since his recovery, Mauro, now a successful lawyer, has returned to Mount Sinai frequently. Like the rest of his family who carries the FAP mutation, he requires periodic endoscopies — at times as frequently as every three months — and lifelong monitoring to protect against the development of colorectal cancer.
Mauro is used to the cycle: New polyps inevitably grow, and Dr. Cohen finds and removes them.
While many hospitals, including Mount Sinai, treat patients for colorectal cancer, the Zane Cohen Centre has developed unparalleled expertise and resources specifically in hereditary colorectal cancers. The ZCC is home to more than 30 of the most important colorectal and inflammatory bowel disease databases in the world, which have been collecting patient data for more than 30 years. Researchers around the world rely on this robust resource for patient information and tissue samples, and our databases support ongoing research efforts to map the genetic underpinnings of hereditary cancers and improve our ability to identify who is at risk and why.
Hereditary colorectal cancers account for less than five per cent of all colorectal cancers — with the genes we currently know about. Dr. Cohen suspects that potentially another 10 per cent of colorectal cancers have a familial component that researchers have yet to discover.
“Part of our mission is gene hunting,” Dr. Cohen explains. “We see cases where it looks like a lot of cancer in the family but we can’t identify genes yet. Eventually we will be able to — and then we’ll be able to offer those families genetic counselling as well.”
Genetic counselling is a relatively new component of care for such families. The ZCC has four genetic counsellors who actively work to identify at-risk family members and to help patients who test positive for a genetic mutation understand their results and make long-term decisions about their health and families. Because of the severity of the disease and the near-inevitability that those with FAP will experience its symptoms, genetic counselling is essential to diagnose and manage the condition in those who carry the gene as early as possible.
According to Spring Holter, a genetic counsellor at the ZCC, testing is half the battle. “Our biggest struggle with hereditary cancer syndromes is making sure families communicate information with other family members so that they can come in and get testing. It can be hard for families to have that conversation.”
The next generation
In most hereditary cancer syndromes, children of a parent who has the gene mutation — in Mauro’s case, the FAP mutation — have a 50 per cent chance of inheriting the mutation as well. And yet, though FAP winds its way through Mauro’s family tree, several of his family members, including some of his father’s siblings, don’t have the FAP mutation.
Mauro hopes his own son, Joćo Matteo, now three years old, will be one of the lucky ones.
When he is old enough — between 10 and 12 years old — Joćo Matteo will be offered genetic counselling and testing. With luck, he will not inherit the FAP mutation. If he tests positive for FAP, Joćo Matteo will be referred to a pediatric gastroenterologist to be monitored every two years until polyps start to develop, and annually once polyps are found.
Like any parent, Mauro wishes his son an easier path, but he doesn’t regret the complications that have plagued him. Rather, he sees them as an important part of the evolution of treatment for future patients.
“The care improves with every passing year,” says Mauro, “but you need people like me who go through all these complications so that when other people, like my son, come along, they’ve learned from it and the care keeps getting better.”
Photo: John Packman