Rare diseases are often synonymous with difficulties for sufferers, whether physical, mental or social. Patients suffering from rare diseases face specific problems, such as the long wait for a diagnosis, the geographical distance between the rare disease reference center and home, and the isolation created by this very disabling disease... Children suffering from rare genetic diseases have difficulty accessing higher education, but above all in finding an internship or work-study placement, due to the rarity of their disability.
The aim of this study, entitled "Imagine La Suite", is to assess the difficulties encountered by young people with rare genetic diseases and disabilities in their search for vocational and university training or employment.
Current age 15-25 years born between 1997 and 2007
epilepsy without deficiency ;
genodermatosis ;
constitutional bone diseases ;
Patient or parent's opposition to study participation
Patient with intellectual disability (IQ < 70)
Patients with pathologies involving intellectual disability and patients with a clinical sign of intellectual disability.
Patients currently aged 15-25 born between 1997 and 2007 and followed at Necker in the networks of the following disease reference centers: * epilepsy without deficiency ; * genodermatosis ; * constitutional bone diseases ; * craniofacial malformations; * deafness;
Other
Prospective
survey
Other interventionPatients take part in a survey, completing a form in less than 30 minutes
Entry into a training program, validation of a diploma, obtaining a 1st stable job
Characterize the pathology components of the care pathway, barriers/ strengths to inclusion
Use of tools to facilitate socio-professional inclusion
Number of HR company representatives made aware of rare diseases
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