On the occasion of the International Day of Rare Diseases, a survey highlights the too late diagnosis of pathologies and the social isolation from which patients suffer.
Hemophilia, Charcot’s disease, Crohn’s disease … In France, 3 million people are affected by 7000 rare diseases. Who are these patients and how do they live on a daily basis? On the occasion of the International Day of Rare Diseases which takes place this Saturday, the National Observatory of Rare Diseases is publishing a survey based on the testimonies of 448 users of Rare Disease Info Services.
A diagnosis 4 years after the onset of symptoms
In this survey, about 70% of sick people are women. The average age is 32 years, but the symptoms appear before the age of 20 for half of them and for a third of the patients surveyed before the age of 2 years.
While 86% of patients report benefiting from a doctor’s diagnosis, the average medical wandering – that is to say the time between the onset of the first symptoms and the diagnosis of the disease – is 4 years. However, as the report states, this diagnostic error is “not easy to measure”, due to a lack of data. Disparities therefore remain in the results, “either because the age of the first symptoms is not known, or the diagnosis or the date it was obtained are not communicated”. Thus, two thirds of respondents received a diagnosis after two years, 21% had to wait more than 6 years, and 10% more than 12 years. In addition, 14% of those surveyed are still awaiting a diagnosis.
Social isolation
Of those who have not yet been diagnosed, 80% feel a deep sense of social isolation. “The lack of knowledge of the pathology and its evolution masks us the repercussions that the disease can have on a daily basis and that it is thus very difficult to assess and therefore to compensate”, deplore the authors of the survey.
“My child began to be afraid of school, for lack of accommodation and a response adapted to his illness and his difficulties … We felt left out, we became embarrassing for others” , testifies a mother. With regard to professional life, a quarter of those polled say they have stopped working. “The illness did not allow me to pursue a professional orientation towards what I liked to do. I lived it badly, ”says one of them.
In view of the results of the survey, the National Observatory for Rare Diseases presents an example of a care and support system for sick people. The objective is to limit as much as possible “breaks in the course” on the one hand and to make an earlier diagnosis on the other hand. This arrangement includes “a care center, a marked health course and a multidisciplinary team very present with patients and their families”.
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