Within the “umbrella” of rare diseases, rare cancer patients confront particular problems. Most rare diseases have an identified genetic origin.  In contrast, rare cancers are mainly acquired diseases.

A rare cancer affects only 6 out of 100,000 people in all of Europe annually. Although some very rare cancers may only affect one person in Europe every year, four million new cases of rare cancers are diagnosed annually in Europe alone, making up 20% of all new cancer cases. 

Taken together, rare cancers are not so uncommon at all.

Chordoma is one of the 198 types of rare cancers  that have been identified so far. The annual incidence of chordoma is approximately one new case per million people per year. That means that roughly 300 patients are diagnosed with chordoma each year in the United States. The incidence in Europe appears to be similar, but is unknown in other continents.

Hans Keulen, a Dutch ICT entrepreneur, was diagnosed with chordoma in 2009 after several misdiagnoses. "When your neurologist, looking at your scan says: ‘I have never seen this before’, you know you have a problem!" he says.

"After the initial shock many rare cancer patients are unfortunately left to manage their healthcare on their own," Keulen continues. "That is how it has remained for me: searching for a cure in different countries, with doctors who do their utmost in their specialty, but who need resources and support.

"In many cases, the patient directs his own treatment, as there is still a long way to go to co-ordinate efforts between oncologists, radiologists, surgeons, etc. for the treatment of rare cancers.”

Paolo G. Casali, Chairperson of Rare Cancers Europe (RCE), also highlights the plight of rare cancer patients: “Challenges that rare cancer patients - and other rare disease patients - face have mainly to do with the difficulties of finding clinical expertise in their community."

“Health systems should identify reference centres, and support them properly, especially by funding and creating appropriate networks between them,” Casali notes.

Rare Cancers Europe is advocating for expert centres for each type of rare cancer to be identified; once they are identified, the centres should be linked, forming networks that allow for exchange of information, the conducting of registries and the referral of patients.

RCE is also meeting with regulatory bodies to expedite the development of new anti-cancer drugs.

Source: Rare Cancers Europe