📍Inform about our actions
FOCUS N°3 AVAILABLE IN ENGLISH!!
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ASSEMBLÉE GÉNÉRALE du 21mai 2026
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FAITES DÉFILER LES IMAGES POUR LIRE LA PRÉSENTATION
Projects with you patients, families and professionals
The Les Extra-Vaillants – MYT1L association is undergoing a profound transformation. While scientific credibility has now been established, the challenge is to convert this momentum into concrete, lasting support for families in their daily lives. Three pillars structure the 2026–2030 project.
Pillar 1 — Sustaining the partnership with medical excellence
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Continue precision studies of the phenotype, underlying mechanisms, and molecular origins of the syndrome.
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Support the Franco-German project on MRI and EEG re-reading.
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Support research into episignatures linked to the MYT1L gene at Rouen University Hospital.
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Support the establishment of a French patient registry with a European scope, in collaboration with Germany (the United States has already developed a declarative registry).
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Respond to calls for proposals, particularly in the Humanities and Social Sciences. An explanatory fact sheet on ongoing research around the MYT1L gene, in France and internationally, is currently being finalized. It will be shared with families as soon as it is ready.
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Secure sustainable budgets and develop funding monitoring and research tools.
Pillar 2 — Rising to the challenge of "meaningful proximity"
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Focus more on families' daily lives: needs have evolved as the community has grown, and the 2023 study is now too narrow in scope.
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Transitions: the emergence of adult "Vaillants" is creating critical new needs beyond healthcare (social, legal, and independence-related).
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Schooling, training, and employment: the association must become a compass for parents navigating increasingly complex systems.
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Territorial network: build a volunteer network across the entire country to provide local support and reduce the isolation caused by geographic dispersion.
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Revise communication tools and methods used with families.
Pillar 3 — Moving from solo management to coordinated effectiveness
The current hyper-centralization is a major bottleneck. Valérie's availability — as the primary driver since the association's founding — is a limited resource that cannot single-handedly carry all projects.
The plane needs more than one pilot.
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Transition toward autonomy: move away from the single-pilot model by developing tools and processes that enable autonomous collaboration, including on GDPR compliance (a guide for volunteers is already being drafted).
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"Smart" international: build effective cross-country links without being time-consuming, so each country can move forward in concert.
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Ensure calm and reliable management of essential tasks: monitoring, social media, information sharing, and local action deployment.
It is worth noting that the Caisse d'Épargne Solidarity Days on June 2 and 4, 2026, will offer a concrete opportunity to work on this coordinated effectiveness project.
ASSEMBLÉE GÉNÉRALE du 8 janvier 2025
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FAITES DÉFILER LES IMAGES POUR LIRE LA PRÉSENTATION
Projects with you patients, families and professionals
With the medical and paramedical world
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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
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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
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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
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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).
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Being the relay of paramedical practices that benefit patients: collecting testimonials, encouraging the exchange of practices, developing recommendations, etc.
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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.
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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.
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With patients, and families
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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
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Represent and defend the different expressions of the syndrome.
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Representing and advocating for patients at different stages of their lives: from early childhood to adulthood. TRANSITION SUPPORT PROJECT
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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
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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
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Being a listening ear , a support
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Organize meeting events for patients and their families - FIND IN THE "CHAMPIONS' CORNER" TAB
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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.
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promote reading and understanding of the person with this syndrome in the different contexts of their life - School/institute exchanges at the request of the structures
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promote the implementation of adaptation tools and arrangements necessary for patients, and participate in their thinking - School/institute exchanges at the request of the structures
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encourage, promote all artistic and sporting actions as an essential need for self-expression, inclusion, and social connection.
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Being a privileged contact to ensure the rights and implementation of decisions taken for patients.