Rare Diseases
Conditions
Brief summary
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.
Interventions
OTHERsurvey
Patients take part in a survey, completing a form in less than 30 minutes
Sponsors
Imagine Institute
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
15 Years to 25 Years
Inclusion criteria
* Current age 15-25 years born between 1997 and 2007 * Rare genetic disease confirmed by a genetic test, originating in childhood and followed at Necker in the networks of the following disease reference centers: * epilepsy without deficiency ; * genodermatosis ; * constitutional bone diseases ; * craniofacial malformations; * deafness;
Exclusion criteria
* 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Entry into a training program, validation of a diploma, obtaining a 1st stable job | 18 Months |
Secondary
| Measure | Time frame |
|---|---|
| Characterize the pathology components of the care pathway, barriers/ strengths to inclusion | 18 Months |
| Use of tools to facilitate socio-professional inclusion | 18 Months |
| Number of HR company representatives made aware of rare diseases | 18 Months |
Countries
France
Contacts
CONTACTFatima clinical project manager, Medical doctor
Outcome results
None listed