When Eleftherios Stavropoulos plays with his 11-year-old son, George, he tries not to wonder whether he will live long enough to see his boy graduate from high school, earn his college degree or get married. Stavropoulos, who started treatment for his rare stage four cancer on his 49th birthday in June, isn’t sure what life will hold. But he’s determined to do everything he can to beat his illness – and to help others facing diseases too rare to garner much attention from researchers and pharmaceutical companies.
Cancer wasn’t on Stavropoulos’s mind in September 2018, when he began having minor hearing problems in his right ear that he assumed were related to diving while on vacation in Greece. Stavropoulos, who lives in Brussels in Belgium, was prescribed ear drops, antibiotics and cortisone injections. He was also tested for hearing loss.
But the pain got worse, and in March he underwent an MRI that revealed a tumour had infiltrated not only the bone at the base of his skull, but also his facial nerves. Because the tumour had spread to these sensitive areas, it was inoperable. Stavropoulos’ health worsened: He could no longer hear in his right ear, and his face, tongue, lips and chin became numb.
In April, the results of his biopsy came back. Stavropoulos had small salivary gland adenoid cystic carcinoma, a rare form of cancer that is resistant to chemotherapy.
“I was speechless. I was frozen from fear and could not breathe. Hundreds of questions came to my mind: How much time is left, how will I tell this to my son?” Stavropoulos recalls.
Stavropoulos’s disease is rare. In the United States, for example, only about 1,200 people per year are diagnosed with adenoid cystic carcinoma, according to the National Organization for Rare Disorders. Earlier this year, US professional runner and Olympic hopeful Gabriele Grunewald died of adenoid cystic carcinoma after being diagnosed with the disease in 2009. Stavropoulos was devastated to learn that most patients only survive three to five years.
“I could not sleep or eat,” recalls Stavropoulos. “I would stay up all night reading about my type of cancer in order to know what to expect and get some answers regarding life expectancy and possible treatments. I would sleep out of exhaustion for two to three hours and then wake up again with more questions and ideas about searches that I should do on the web.”
The term “rare cancer” is something of a misnomer, since it encompasses 198 different diseases, according to the European Information Network on Rare Cancers. Roughly a quarter of all cancer cases diagnosed in the US and European Union are rare cancers, according to data compiled by Rare Cancers Europe and the US National Institutes of Health.
Of the top eight deadliest cancers, seven are considered rare, and deadly cancers have a five-year survival rate of less than 50 percent, according to the TargetCancer Foundation.
Huge disparities in research, funding and treatment exist. In the US, for example, the National Cancer Institute dedicated half a billion dollars to breast cancer research in 2017, and more than $320m to lung cancer research. Salivary gland cancer, on the other hand, received just $678,015 in funding.
Pharmaceutical companies are also reluctant to fund research into rare cancers because investing in cures for diseases that affect relatively small groups of people may not lead to drugs that can recoup the cost of development.
Rather than just developing a drug for one specific cancer with a limited patient population, they're now developing a drug that targets a mutation that may show up in three or four or five different cancers.
That’s why Stavropoulos, like many others battling rare cancers, felt he had to take ownership and race against the clock to find answers, seek information on clinical trials and get access to experimental treatments himself. It’s an unfortunately common experience, says Jim Palma, TargetCancer Foundation’s executive director.
Patients are also frustrated to find there are few effective treatments for many rare cancers. “Patients with those cancers may not have the same resources available,” explains Palma. “There may not be the same information, there may not be communities that have emerged around them, so the experience is incredibly isolating.”
Many of the doctors Stavropoulos consulted for second and third opinions knew little about potential treatments. Frustrated, he focused on fighting the ignorance he felt stood between him and a cure. He emailed his doctors relevant articles from medical journals, found studies about successful treatments in mice, and pushed to have a sample of his tumour sent to a Boston laboratory for gene analysis.
Rare cancers represent the “greatest inequality” in cancer research and treatment, according to a 2017 study by researchers at Queen’s University Belfast.
“If you are a scientist and you focus on large, mainstream cancer, you know that your findings may be relevant for a population that is not small,” professor Dr. Manuel Salto-Tellez, the study’s lead author, told Al Jazeera. “If you spend your time on rare cancer, then the impact of your research may not necessarily be as much.”
“If you put that together with the idea that funding agencies feel more or less the same – that they should invest in cancers that are more common, and therefore the result would benefit more people – then neither the interest nor the funding is necessarily there,” he said.
Researchers who do want to find treatments may also have less information at their fingertips. Smaller patient populations limit the availability of tissue to study and make recruiting patients for clinical trials more challenging. These factors make it harder to define the molecular landscape of rare cancers, Palma explained.
Researchers studying more common cancers often have access to cell lines, mouse models or genomic studies from around the world. “In rare cancers, often those tools just don’t exist at all,” said Palma. “And it’s a huge impediment to driving research forward, but also bringing other researchers into the field.”
Salto-Tellez noted in his study that a different approach is needed – one that shouldn’t “water down the definition of good research” and that acknowledges the strong need to not only gather information, but also to understand “alternative therapeutic interventions”. Therapies that target genetic mutations in one type of rare cancer could be used to treat others, expanding the market for treatments and enticing companies to get involved in finding cures, Palma explained.
“Rather than just developing a drug for one specific cancer with a limited patient population, they’re now developing a drug that targets a mutation that may show up in three or four or five different cancers,” Palma said. “The population for that drug grows very quickly, which helps motivate the company.”
Ultimately, Salto-Tellez said, treating rare cancers is going to take a concerted, systematic effort from many different groups.
“This is a complex problem that probably requires a complex solution. All of the stakeholders of this problem – grant agencies, industry, healthcare systems – need to come together to create a study that will help these patients,” he said.
Stavropoulos completed a course of treatment using radiotherapy with carbon ion particles in Heidelberg, Germany in August. It cost close to 65,000 euros ($71,718) but is covered by his insurance, he said. He will undergo MRI and CT scans in October to see if the treatment has worked. In the meantime, he helped organise a gathering of patients with the same rare disease in Brussels earlier this month.
“Rare types of cancer can unlock mysteries for other types of more [common] cancers,” Stavropoulos said. “If big pharma does not invest, then more national or European Union funds have to be invested. We have set goals for climate change, for nuclear disarmament, et cetera … We have been able to go to the moon. We should be able to stop cancer.”
This is the third story in AJ Impact’s three-part series on the challenges of finding cures for rare diseases. Each story focuses on the human faces behind the diagnoses and the challenges researchers and patients face in funding research and accessing treatment. Read part one about a family’s race to save their son from an ultrarare genetic disorder here, and part two about metastatic cancer patients fighting for a cure they may not live to see themselves here.