‘Research and awareness of rare diseases is inadequate’

‘Research and awareness of rare diseases is inadequate’

Next Tuesday is National Zeldzameziektendag to draw attention to rare diseases. In the Netherlands about one million people have a rare condition. Nevertheless, it is there from the government and pharmaceutical indrustrie little attention to these diseases.

Rare diseases are often genetic, chronic, progressive and usually life-threatening. There are at least about 7,000 rare diseases known. According to Cor Oosterwijk, director of the Association of Cooperating Parent and Patient organisations Involved In Erfelijkheidsvraagstukken (VSOP), are the margins in hereditary diseases is large.

Because the diseases are rare, it is difficult to say which are the most common, also more and more variations of diseases known. “When the conditions are grouped, are generally neuromuscular disorders and stofwisselingsziektes often for us,” says Oosterwijk.

“Internationally, there is no system that the number of disorders keeps. This is why we say that four to eight percent of the people with a rare condition,” says Oosterwijk. “Such a condition can occur from birth to reveal, but it can also be contained during childhood only to develop.”


About 80 percent of rare diseases are genetic, but this is not to say that the problems have actually started to develop. An example of this is hereditary breast cancer. This rare condition can be in someone’s DNA is present, but need not at all to breast cancer.

Congenital rare disorders, for example spina bifida or a cleft lip, but this is not always hereditary. The risk of such a deviation increases when the mother-to-be, for example, no folic acid ingested during the pregnancy. Also, drinking alcohol and smoking during pregnancy for non-hereditary rare diseases ensure.

A well-known condition that alcohol causes the Fetal Alcohol Syndrome (FAS). A FAS baby often has a low birth weight, grow generally slow, slender and often have an abnormally small head.

Often, the symptoms of a disease that is rare in the first instance is not considered a rare condition. “The complaints and symptoms to be arranged in a different box placed. So is anyone with symptoms are told that, for example, a physical limitation,” says Oosterwijk.


Because the margin of error large for the VSOP awareness about rare diseases to increase. “Of diabetes, dementia and for example, cancer is a lot of research done, but rare diseases, mine is often the worst of it.” Also in the pharmaceutical industry has little interest in rare diseases, because there is only money with a drug will be earned when many people are a disease.

“There is at this moment searched for medicines that could potentially be the symptoms of several rare disorders may fight, but it is a European or international cooperation is necessary.” The more people with certain symptoms to report, the sooner there from the famaceutische industry interest in the development of a new drug.


“In France and England, in relation to the Netherlands for example, per head of the population more money invested in medical research. On the other hand, we have in the Netherlands understand better academic hospitals. We also have in the Netherlands a good health care.”

Oosterwijk fills that a good development is going on in the field of knowledge about rare diseases. “Worldwide, more and more centres of excellence. These are required to work together, to grant for research.”

The theme of National Zeldzameziektendag, either International Rare Diseaseday, is this year’s “research”. In 2013, launched by Edith Schippers, Minister of Health, Welfare and Sport, the National Plan for Rare Diseases.

The minister has asked for new advice and wants to know what needs to be done. On February 28, handing over the VSOP to the minister a report containing recommendations for new research that will have priority.

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