Projects with you patients, families and professionals

With the medical and paramedical world

Specify the medical description of MYT1L syndrome
Obtain recognition of the syndrome as a specific and unique neurodevelopmental syndrome
Develop communication tools for the different audiences on the syndrome: alert points, heterogeneity, particularities, treatment recommendations, understanding, support
Support clinical research or fundamental research projects: be the preferred link for collecting information from families abroad, encourage the participation of French patients by financing travel, accommodation if necessary, collect donations to finance a project research by allocating specific and one-off resources (e.g. research assistant over a given time).
Be the relay of promising paramedical practices for patients: collect testimonials, promote exchanges of practices, develop recommendations...
Support research, paramedical experiments on pathology.
Be a dynamic player in the health sector and the alliance of rare diseases.
Special event : Patients, Clinicians, Researchers in November 2022 in collaboration with the teams of the CHU of Rouen, the doctors in clinical genetics Dr Guerrot and Dr Coursimault of the CHU of Rouen, the AnDDi-Rares health sector and the Extra-Vaillants MYT1L.

Offer tools for understanding the pathology.
Represent and defend the different expressions of the syndrome.
Represent and defend patients in the different stages of their life: from infancy to adulthood.
Develop tools, with the support of the medical and paramedical staff, to obtain recognition and rights in administrative procedures, in particular the "Maison Du Handicap", and others organizations requested by the disabled person or their family.
To be a privileged link between families affected by this pathology, between families and those working with people with this disability.
Listening, support
Organize meeting events for patients and their families
Being able to meet specific needs if necessary. For example, being able to help with partial funding of equipment that is not 100% supported and essential to the person.

promote the reading and understanding of the person carrying this syndrome in the different contexts of his life
promote the implementation of adaptation tools and adjustments necessary for patients, and participate in their reflection
encourage, promote all artistic and sporting actions as an essential need for self-expression, inclusion, social bond.
Be a privileged interlocutor to ensure rights and the implementation of decisions taken to patients.