Decision to remove healthy stomach daunts family fearing cancer

When she was about 20 years old, Ms Caprioli and her older brother learned they carried a genetic mutation for a rare and aggressive cancer that killed 12 members of their family, including their much-loved uncle months earlier.

Their mother had also developed microscopic traces of the stomach cancer known as hereditary diffuse gastric cancer (HDGC), and had her stomach removed almost immediately.

"My brother and I were so young when we found out we had this mutation ??? it's a very daunting thing to be forced to confront," Ms Caprioli said.

The youngest relative to die of the rare cancer was 30 years old. Ms Caprioli celebrated her 30th birthday a few months ago.

People with the CDH1 gene mutation have an at least 80 per cent risk of developing HDGC. It is difficult to diagnose early, hiding in the folds of the stomach lining. Patients have a 20 per cent chance of survival once the cancer spreads beyond the stomach.

"By the time you develop symptoms it essentially means death is inevitable," Ms Caprioli said.

The siblings were given a choice: have their stomachs removed immediately, or watch and wait.

It was her last appointment with her gastroenterologist that cemented Ms Caprioli's decision.

She had undergone so many gastroscopies that her gastroenterologist was finding it increasingly difficult to navigate the topography of her stomach and determine which lesions were caused by the frequent biopsies and which may be cancerous.

"He said 'You could walk out of my surgery today, and tomorrow cancer could have migrated out of your stomach and that could be it. There's nothing we could do for you'.

"When you think about it like that, why would you take the risk when you can have a normalish life?

"Having this surgery will take away the stress of not knowing," she said.

In November Ms Caprioli will undergo a prophylactic gastrectomy. Her surgeon will then connect her oesophagus to her small intestine using a gastric bypass procedure called Roux-En-Y.

"I'm constantly thinking: 'Am I taking out a healthy stomach?'

"In a strange way, I've been hoping and praying that they would find something, some sign of cancer, to give me the motivation to confront this."

More than 52,000 people are diagnosed with rare or less common (RLC) cancers every year in Australia, defined as cancers with fewer than six cases, and six to 12 cases per year per 100,000 population respectively.

An estimated 25,000 people die from the conditions annually.

These little-known cancers account for 30 per cent of all cancer diagnoses and almost 50 per cent of all cancer deaths, but attract just 13.5 per cent of research funding and 12.6 per cent of funding for treatments through the PBS.

RLC cancer patients face the daunting task of trying to piece together information from a procession of clinicians who may know little and have even less experience treating their specific cancers.

"Knowledge sharing is something we really need to improve," Ms Caprioli said, adding she was lucky to be linked with a research study in Britain when her mutation was identified.

"Anyone in this situation should be able to access the right specialists and the right treatment," she said.

Ms Caprioli is an ambassador for Rare Cancer Australia (RCA) and its Halloween Sick of Treat fundraising campaign to help support and be an advocate for RLC cancer patients.

In the past three years the organisation has raised close to $20 million and helped more than 50 patents, said RCA co-founder Kate Vines.

"I hear the same comments from patients every day," Ms Vines said. "Their doctors say 'I've never seen this type of cancer before and I have no idea how to treat it."

With more than 200 RLC cancer types, it was impossible for any cancer clinician to be across them all.

"We try to fill the gap by sharing knowledge, linking patients to doctors who have a special interest in their particular cancer, the right information or clinical trials," Ms Vines said.

"It's an enormous task" demanding fundamental reforms in the way Australia tests, approves and enables access to treatments for RLC patients, she said.

While most patients with more common cancers can access drugs of procedures through the pharmaceutical benefits scheme or Medicare, patients with rare cancers must fork out exorbitant sums for drugs that attract no government subsidies, or miss out on treatment.

"Most people in the community think that if you're diagnosed with cancer your treatment will be covered. When they learn there is no treatment or it will cost $10,000 a month they're completely shocked," Ms Vines said.

"It's a huge financial avalanche on a family already dealing with a cancer diagnosis."

As knowledge of genomics becomes more sophisticated, drug funding, PBS listing and clinical trials needed to move away from classifying patients based on where the cancer is, and assess their genetic markers, Ms Vines said.

In August Health Minister Greg Hunt announced $13 million from the Medical Research Future Fund to a "pan-tumour" approach to help give people with RLC cancers greater access to subsidised treatments and clinical trials.

The announcement followed the release of Rare Cancers Australia's Rare Solutions report that urged the federal government to introduce provisional listings on the pharmaceutical benefits scheme and ease restrictions to allow RLC cancer patients to enroll in clinical trials designed to investigate treatments for more common conditions.

The Garvan Institute and NHMRC Clinical Trials Centre recently opened the Genomic Cancer Medicine Program to match patients to clinical trials and promising therapies, and help manage patients like Ms Caprioli who have inherited a high risk of cancer.

"Through our new understanding of the genomic basis of cancer, we can, for the first time, match patients with therapies on the basis of their, and their cancer's, genetic profile - instead of treating cancer according to where in the body it occurs. Indeed many cancers traditionally thought to be tissue-specific are actually caused by the same mutations," said Professor David Thomas Head of the Cancer Division at the Garvan Institute and director of The Kinghorn Cancer Centre.

The program received $7 million in state government funding, part of $24 million investment through the Sydney Genomics Collaborative.

After her surgery, Ms Caprioli will lose a considerable amount of weight, and her body will struggle to absorb essential vitamins.

Her brother, an iron man, has decided against having a prophylactic gastrectomy. But Ms Caprioli hopes she will prove to him he can lead a fulfilling and active life without the constant spectre of HDGC.

"I'll have to be very careful about monitoring my iron and calcium levels, and have high protein diets to rebuild my body," she said.

"It's a much better life than not having a life at all," she said.