On the occasion of the 12th edition of the International Rare Disease Day, which takes place this Wednesday, February 28, Why Doctor recalls that 80% of them are genetic and that the vast majority still do not have treatment.
A disease is said to be “rare” when it affects less than one person in 2,000. To date, between 7,000 and 8,000 diseases have been identified, and new ones are discovered every week. These rare diseases affect 3 million people in France, i.e. nearly 4.5% of the population. 80% of rare diseases are of genetic origin and 85% of them have no treatment that can cure them (we then speak of an “orphan disease”).
Trisomy 21, sickle cell disease, cystic fibrosis
Some pathologies are known to the general public, such as trisomy 21, sickle cell disease or cystic fibrosis, but others much less: eosinophilic esophagitis, familial long QT syndrome, cytomegalovirus embryopathy, genetic peripheral neuropathy, etc….
Heminegligence results for example in a total oblivion of half of his body by the one who suffers from it. The patient will eat only what he has on the right half of his plate, shave only one side, read only the right page in a magazine… All this with a normal intellect, which entails the most often fanciful explanations of the behavior of patients because, not being aware of their disorders, they have no rational explanation for their attitude.
A plan of 700 million euros
Last July, 55 measures to fight against rare diseases and improve the care of the people concerned were announced by the Ministry of Solidarity and Health. This plan is endowed with 700 million euros, of which 20 million will be specifically dedicated to research.
“But the challenges remain immense for those who often combine several disabilities, are marked by severity (35% of patients die before the age of one year), physiopathological complexity, comorbidities”, explains Professor Stanislas Lyonnet, pediatrician and geneticist at the Necker-Enfants hospital, in the Figaro. Patient associations also accuse manufacturers and laboratories of no longer looking into new treatments, for lack of profitability. The platform for rare diseases thus denounces “the absence of curative treatment” for most patients and “insufficiently developed research”.
55% of French people think that rare diseases affect less than 50,000 people
“That’s the whole concern of these pathologies: for some we will only meet one or two patients who suffer from them in a medical career. But taken as a whole, they all pose the same problems, that of diagnosis and management. load, as well as genetic information at the family level”, explains Pr Sylvie Manouvrier, geneticist at the CRMR “Anomalies of development” at the Lille CHRU (North).
According to an Opinion Way survey for the Groupama Foundation, 93% of French people have already heard of rare diseases: 94% know that they are not contagious and 92% that they affect both children and adults. But if 78% of the citizens of France know that there are several thousand different rare diseases, they are 55% to think that rare diseases affect less than 50,000 people (instead of 3 million).
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