To better understand the situation of people with a rare disease, the Rare Diseases Observatory regularly collects data on their daily lives. Their latest inventory, which has just been put online on their site, shows that the announcement of the diagnosis generally takes place under good conditions: 90% of the announcements are made by the medical specialist, in 87% of the cases this announcement is made face to face and 80% of the patients consider that the place of the ad was appropriate. Only downside: the vast majority of patients regret, once the diagnosis has been clearly established, not having received additional information on the disease or addresses of appropriate websites allowing information to be obtained. To the question: “What more would you have liked following the announcement? »78% of those questioned would have liked to have had more information about the disease and the treatments. Similarly, more than half of those questioned would have liked support in their procedures and 38% psychological support.
Rare diseases: drugs to be taken daily
But what the majority of people with a rare disease point out are the practical difficulties associated with medication. as part of their illness, i.e. 160 people.
The main constraint is the obligation to take it daily (cited in 81% of cases), the obligation to have these medications constantly with you (44%) and the very strict schedules for taking them that must be respected (45 %). In addition, 62% of people report adverse effects to their treatments, 29% of which are very bothersome and 52% quite bothersome.
This survey, conducted among users of Maladies Rares Info Services, is available in full on the website rarediseasesinfo.org, supported by the AFM-Téléthon and the Ministry of Health.