With the medical and paramedical world

• Clarifying the medical description of MYT1L syndrome: continuing clinical and fundamental explorations - SEVERAL STUDIES ON THE DEEPENING OF THE PHENOTYPE IN PROGRESS OR IN PROJECT

• Obtain recognition of the syndrome as a specific and unique neurodevelopmental syndrome: obtain an Orphanet code so that the pathology is recognized and that this promotes the monitoring of patients and their procedures - CODE ORPHANET : 647799

• Develop communication tools for different audiences on the syndrome: warning points, heterogeneity, particularities, recommendations for management, understanding, support - AT YOUR DISPOSAL VIDEOS - PDF - FALC - FLYERS AVAILABLE ON THE SITE AND YOUTUBE

• Support clinical or basic research projects: be the preferred link for collecting information from families internationally, encourage the participation of French patients by financing travel and accommodation if necessary, collect donations to finance a research project by allocating specific and one-off resources (e.g.: research assistant for a given period of time).

• Being the relay of paramedical practices that benefit patients: collecting testimonials, encouraging the exchange of practices, developing recommendations, etc.

• To be a dynamic player in the reference center for developmental anomalies at the Roue University Hospital, the health sector and the rare disease alliance.

• 2ND INTERNATIONAL DAY AROUND THE MYT1L GENE - JUNE 2025, after a first day: Patients, Clinicians, Researchers carried out in November 2022, available on Youtube, in collaboration with the teams of the Rouen University Hospital, the doctors in clinical genetics Dr Guerrot and Dr Coursimault of the Rouen University Hospital, the AnDDi-Rares health sector and the Extra-Vaillants MYT1L. Continuation of these days ideally every 2 years.

Click on the image to access the PDF and all active links of the underlined words

• Offer tools for understanding the pathology for the patient, their family and people in contact with the patient - AT YOUR DISPOSAL VIDEOS - PDF - FALC - FLYERS AVAILABLE ON THE SITE AND YOUTUBE

• Represent and defend the different expressions of the syndrome.

• Representing and advocating for patients at different stages of their lives: from early childhood to adulthood. TRANSITION SUPPORT PROJECT

• Develop tools, with the support of the medical and paramedical profession, to obtain recognition and rights in administrative procedures, in particular the "Maison Du Handicap" and other organizations contacted by the disabled person or their family - CODE ORPHANET - PROJECT WITH THE ERHR

• To be a privileged link between families affected by this pathology, between families and those working with people with this disability. School/institute exchanges at the request of the structures

• Being a listening ear , a support

• Organize meeting events for patients and their families - FIND IN THE "CHAMPIONS' CORNER" TAB

• To be able to meet specific needs if necessary. For example, to be able to help with the partial financing of equipment not 100% covered and essential to the person - Provision of an iPad 10 and accessories to support communication and learning thanks to the GROUPAMA FOUNDATION and GAN ASSURANCES

With teachers, supervisors in the fields of sport, the arts and recreation.