Are 'Cinderella' cancers more common than you think?
New figures suggest rare cancers pose a major issue in healthcare. Is enough being done for patients
You might think that a rare cancer would be a one in a million thing. Wrong. According to new research 17pc of cancers diagnosed in Ireland now meet the definition of 'rare'.
During a meeting held on September 3, between the National Cancer Control Programme (NCCP) and European group, Rare Care (rarecare.ue), an EU wide body dedicated to monitoring less common cancers, it was revealed that one-in-five cancers diagnosed in Ireland is 'rare', defined as less than six cases per 100,000 population.
Individually these cancers only account for a small percentage of cases, but grouped together, they pose a major issue.
"That's a significant fraction of the total," says Dr Jerome Coffey, director of the NCCP. "Over the past seven years the National Cancer Control Programme's focus has been on the more common cancers. This was a totally different conversation."
It's perhaps understandable that the greatest level of attention, with regard to awareness, detection and treatment tends to be on the so-called 'big four' - lung, breast, bowel and prostate. These are after all the cancers the population is most likely to suffer from.
But it can leave those diagnosed with a less common cancer, feeling marginalised.
They're sometimes dubbed 'Cinderella cancers' or 'orphan diseases', in that those suffering can feel overlooked or isolated in the system. But more terrifying for those diagnosed is the poor prognosis often associated with the more than 270 rare cancers in existence.
One of those discussed at the NCCP meeting were soft tissue sarcomas, a group of rare cancers that develop from soft tissues such as muscle, nerves, fibrous tissues, blood vessels fat or deep skin tissues.
According to the National Cancer Registry Ireland (ncri.ie) there are around 176 cases diagnosed each year in Ireland, with a 56.5pc survival rate past five years.
Another addressed were Neuroendocrine cancers (NETs) which, according to the NCRI, Ireland has an annual average of 113 cases with a five-year survival of 49pc. By contrast, breast cancer, which has around 2,600 cases per year, has a survival rate of around 80pc.
"What struck me, apart from the 17pc figure, was the simple message that people who have these tumours don't do quite as well in terms of survival outcomes," says Dr Coffey.
This is because some rarer cancers can be more aggressive or difficult to operate on. Rates of surgery are low for pancreatic and oesophageal cancers, where the tumour site can prove difficult to operate on.
Often rarer cancers have symptoms similar to other diseases which can lead to misdiagnosis. By the time the cancer is identified, it may be at a more advanced stage making treatment options less clear.
Pancreatic cancer is diagnosed in around 500 people each year - and has had a raised profile since claiming the life of Dirty Dancing star Patrick Swayze in 2009. But its symptoms (abdominal pain, weight loss and fatigue) can lead it to be mis-identified as IBS. Fewer than one in 10 people diagnosed with pancreatic cancer survive over five years.
It's a grim situation that Julia Black, a patient advocate from the Rarer Cancers Foundation (rarercancers.org.uk) which provides support for those battling a rare cancer, is well aware of.
"Patients diagnosed with a rarer or less common cancer suffer from slowest diagnosis, limited treatment options because of fewer licensed drugs, very little research funding, because of low patient populations, scare resources and information and very few clinical trials," she explains.
"Typically there are fewer patient support groups and generally specialist treatment centres are restricted to large city populations which can make access difficult for patients who live outside those catchment areas."
MEP Nessa Childers has been working with the European Cancer Patient Coalition and Rare Diseases Europe pushing for collaboration on cancer registries.
"Although rare cancers have been on the EU agenda for a number of years now, we need to tackle the lack of awareness among the general public and media," says Childers.
"I'd like to see more public discussion. We also need to ensure that health budgets allow for specialised treatment needs and to fund research and establish registries across the EU, to work on best treatments for these diseases."
But Dr Charles Gillham, consultant radiation oncologist at St Luke's Hospital in Dublin, believes we are moving in the right direction.
"There's increasing international focus on rare cancers, partially because, when grouped together, they account for such a huge percentage of all cancers," he says.
There are several reasons why they may have been sidelined until now. He explains: "You can't deny the fact that pharmaceutical companies are very driven by economics and if there are common cancers then treating them is much better for them than rarer cancers whose numbers are much smaller.
"You also need a lot of patients to guide treatment, you need the statistical rigours of a huge clinical trial and that is very difficult to do if you have a small country where there are only five cases a year."
He adds: "The way in which we approach rare cancers generates a lot more challenges and relies on collaboration between countries to ensure people are pulled together with a sufficient number of patients.
"It's much more difficult to focus resources on rare cancers. It's not that they've been actively neglected but they haven't been provided for, and that is changing."
The fact that more rare cancers are being detected illustrates the scientific interest in those cancers and how science around cancer diagnosis is being refined.
We're also becoming more aware of different cancers because patients are becoming more vocal about their conditions and need for specialist treatment.
Some specialists or patients are taking matters into their own hands to gain attention for their illness. The Patient Network Ireland drove a campaign for a national treatment centre, opened earlier this year, for NETs. The Irish Cancer Society (cancer.ie) released a leaflet on rare cancers as well as awareness days for lymphoma and mouth cancer this week. The Irish Sarcoma Group (Irishsarcomagroup.ie) sent leaflets to GPs across the country to raise awareness of the signs and symptoms of sarcoma.
"A GP might only see a sarcoma once in their lifetime," says Dr Gillham who specialises in sarcomas. "Raising awareness is important because often people will ignore a lump if they're otherwise well and it's not interfering in their lives."
He feels it may be working. "I'm definitely seeing many more people than I would have done a year ago."
With more than 270 rare cancers to contend with, there are limitations to awareness campaigns.
"Without being pessimistic, it's very hard to do," says Dr Gillham. But he believes we can help by being aware of general symptoms that need to be addressed.
"If you notice a change to your normal bodily functions, passing blood, pain or a lump that's not easily explained or getting bigger - then those are things to look out for."
The vast bulk of funding put into cancer care in Ireland is directed into drugs and radiation treatment, which benefit a wide cross section of patients. Overall cancer survival rates are improving.
"We have an excellent service and a lot has been achieved," says Dr Coffey. "But I think there's a realisation that we need to give the same attention to less common tumours."
'I was told my rare cancer would kill me in six months but I'd no intention of dying'
In 2009 Brian Walsh (56) from Ennis, Co Clare was making his funeral arrangements after being diagnosed with a soft tissue sarcoma and told he had six months to live. He wants his story to inspire others battling a rare form of cancer.
The dad-of-two was just 49 when he was admitted to hospital in April 2009 after his GP, who had run countless tests investigating his low blood count, said he couldn't do anything more for him. But it was only some weeks later, when Brian felt a hard lump in his thigh, that the cause of his illness was revealed as cancer.
"In the beginning my symptoms were just small things - loss of appetite, weight loss and low energy," recalls Brian. "Then I started getting horrific night sweats and a persistent chesty cough."
He exercised, had never smoked and was otherwise healthy. But a scan revealed a tumour the exact dimensions of a rugby ball. He embarked on a "horrific" course of chemotherapy, but a later CT scan revealed cancer in the lymph nodes and he was given a terminal diagnosis.
"I cashed in the pension, took the wife and daughter on a cruise and made funeral arrangements," says Brian. But he was still determined to fight the disease. "I was angry to be told I was going to die," he says. "My automatic response was 'no I'm not'."
He was getting radiotherapy as palliative care but also visited a healer, went to Lourdes, and read up on the power of positive thinking, focusing on short-term goals like seeing his son's 18th birthday and his daughter's graduation. "A drowning man will try anything," he says. "And I was drowning."
Something worked. At the start of 2010 he saw a surgeon who told him his tumour was now operable and there was no cancer in the lymph nodes. By 2011 he was back to work as a warehouse manager. He now helps others, sharing his story through the Irish Cancer Society's Survivor Support programme.
"I want to give other people hope and inspiration that a terminal diagnosis doesn't always mean the end," he says.
Taxi driver Michael Phylan (50), from Limerick, was diagnosed with oesophageal cancer this time last year.
Aside from an issue with heartburn and a bit of trouble swallowing, he felt fine. "It came like a thief in the night," he says of the cancer diagnosis he received in May 2014.
After visiting his GP, who initially thought it might be Barrett's Syndrome, associated with reflux, Michael was sent for a scope test at St John's Hospital Limerick, where his oesophagus was examined and a tumour revealed.
"They took biopsies and I knew there was a chance of cancer," says Michael. "But it was way more likely to be other things. When I got the news I sort of went into overdrive, looking it up on the internet and realised it could be a particularly nasty form of cancer."
But treatment and prognosis is dependent on the individual.
He spent five gruelling weeks doing five days of radiotherapy alongside one day a week of chemo. He found it tough psychologically. After undergoing seven hours of surgery he spent a week in hospital during which time he needed help to go to the toilet and shower.
"It was humiliating," he says. "At my stage of life I found it very difficult having to have someone else do that for me. I felt like I had to keep apologising, because it wasn't nice."
But life gets back to normal. He says: "It's not that you forget, but other life events push it further away." His prognosis of surviving more than five years is now 50pc.