One of the leading authorities on rare diseases has called for adequate funding and research to help those diagnosed with uncommon illnesses.
To mark Rare Disease Day 2015 tomorrow (28th February), Paolo Casali, chair of Rare Cancers Europe (RCE), said it wanted expert centres for each type of rare cancer to be identified and linked in networks to allow for exchange of information, the conducting of registries and the referral of 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. It is vital for them to get to the right institution,” he said.
“Health systems should identify reference centres, and support them properly, especially by funding and creating appropriate networks between them.”
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 Europe annually, and although some very rare cancers may only affect 1 person in Europe every year, 4 million new cases of rare cancers are diagnosed annually in Europe alone, which make up 20% of all new cancer cases.
Hans Keulen, a Dutch ICT entrepreneur who was diagnosed with cordoma – of which there is 1 new case per 1 million people every year – described the shock of his diagnosis.
“When your neurologist, looking at your scan, says: ‘I have never seen this before’, you know you have a problem!” he says.
“Luckily, soon after, I met a neurosurgeon who not only made the right diagnosis but also was wise enough to say that there were probably surgeons that could do this better … across the Atlantic.
“After the initial shock, many rare cancer patients are unfortunately left to manage their healthcare on their own. 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.”
RCE is meeting with regulatory bodies to expedite the development of new anti-cancer drugs.
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