EVENTS, ACTIONS...
Make known, Support, Inform, Engage, Collaborate.....
RARE DISEASES WALK - TELETHON 2024
Thank you Adele! 🩷💙💚
You were a champion at the Rare Diseases Walk this Saturday, November 30.
It was a pleasure to walk with you, Hélène, Simon, and Marie-Céline, to meet friends, acquaintances and to make lots of others!
We will remember Alex, Clémence, Lucas, the super nice ladies who explained and let you try out their wheelchair, the bus to rest... the smiles, the shared dances, the pretty Blue, Pink and Green colors of rare diseases...
Alice thanks you for the balloon you gave her, which crossed Paris, took the metro and the train to end up in her room in Rouen. 🧡
Thanks to the Rare Diseases Alliance and AFM-Telethon for these suspended moments.
Thank you to you, the Vaillants and friends of the Vaillants, for being with us from afar with your "likes" and your messages!
Thanks to Marie-Céline Pestrinaux from Epilepsie France for sharing this walk with us
Thank you to the Groupama Foundation for walking with rare diseases, it was a pleasure to meet you.
SEE YOU NEXT YEAR!!!
Calls for applications for MYT1L FAMILIES study projects
CALL FOR APPLICATIONS - PRELIMINARIES TO THE DESCRIPTIVE STUDY PROJECT OF LANGUAGE DISORDERS, COGNITIVE DEVELOPMENT AND BEHAVIORAL DISORDERS IN MYT1L SYNDROME
This concerns the Valiants of FRANCE: CHILDREN, ADOLESCENTS, and ADULTS!
Study carried out in Rouen with travel support conditions,
BUT if you cannot travel and would like to participate, contact the association: extravaillants@gmail.com
For any information, contact the association.
We need collective mobilization! Better understanding means better support!
PARTICIPATION OF FAMILIES IN THE GENIDA PLATFORM IN ADDITION TO THE STUDY PROJECT
In French, in English, in Italian, in Spanish
As part of his descriptive study of language disorders, cognitive development and behavioral disorders in MYT1L syndrome, Dr. Coursimault, Rouen, France, encourages all MYT1L variant carriers - children, adolescents and adults - to participate in the GenIDA study >>> rdv on https://genida.unistra.fr/
As part of his descriptive study of language, cognitive development and behavioral disorders in MYT1L syndrome, Dr Coursimault, Rouen, France, is encouraging all careers of MYT1L variants - children, adolescents and adults - to take part in the GenIDA study >>> visit https://genida.unistra.fr/
In this study's description of language transmission, cognitive and behavioral problems in the MYT1L syndrome, Dr. Coursimault, from Rouen (France), led all MYT1L variant carriers - children, adolescents and adults - to participate in the GenIDA study >>> visit https://genida.unistra.fr/
After the studio's description of language disturbances, cognitive and behavioral problems in the MYT1L syndrome, the doctor Coursimault, in Rouen, France, includes all versions of the MYT1L variant - babies, adolescents and adults - to participate in the GenIDA studio >>> visit https://genida.unistra.fr/
Hotel and childcare in Rouen - Closed
Conferences June 6, 2025
EVENT ROUEN JUNE 5, 6 & 7, 2025
2ND FAMILIES, CLINICIANS AND RESEARCHERS DAY ON THE MYT1L GENE
REGISTRATION IS OPEN!
FREE CONFERENCES, OPEN TO ALL - REGISTRATION REQUIRED
FACE-TO-FACE AND VIDEOCONFERENCE - FRENCH/ENGLISH SIMULTANEOUS
Program (full details in images and in english)
June 5, 2pm to 5pm: informal family/doctor meetings
June 6, 9:30am to 5pm: conferences/workshops on Vaillants and siblings
June 7 from 10am to 3pm: Family Day
The days of June 5 and 7, as well as childcare on the day of the conferences, are strictly reserved for families.
HOW TO REGISTER?
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CONFERENCE DAY on June 6, 2025
Register on the Anddi- Rares health network link (face-to-face or videoconference, registration required for both) => Link: https://www.linscription.com/pro/activite.php?P1=190052
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DAYS on June 5 and 7, 25 + HOTEL NIGHTS + Vaillants/fratries workshops on the day of the conferences
To register, please contact Les Extra-Vaillants MYT1L. Questionnaire (click on the underlined word) to be completed and returned to: extravaillants@gmail.com (same e-mail address for all requests)
Please note: all definitive registrations are binding. If you wish to cancel, except in cases of force majeure, you will be charged for the costs incurred.
A HUGE THANK YOU to the professionals who will honor us with their presence.
A HUGE THANK YOU to the Centre de Référence des anomalies du développement du CHU de Rouen, in particular Dr Juliette Coursimault, and to the AnDDI-Rares health network for their trust and support.
A HUGE THANK YOU to the Faculty of Medicine for opening their facilities to us, which will be great for all ages.
HEIDELBERG, GERMANY JUNE 2025 - MINI SYMPOSIUM MYT1L GENE
It's a great pleasure and honour for Les Extra-Vaillants MYT1L to be part of a dedicated Mini-symposium on MYT1L syndrome during the 4th Triennial Meeting of the International Alliance of Academies of Childhood Disability (IAACD) and the 37th Annual Meeting of the European Academy Of Childhood Disability (EACD) in Heidelberg, Germany, from June 24th to 28th, 2025.
Together with the chairs, Prof. Dr. Maja Hempel, Head of Genetic Outpatient Clinic, University Hospital Heidelberg, Germany, and Dr. Moritz Mall, research group leader, Hector Institute for Translational Brain Research at the German Cancer Research Center, we will be presenting along with Dr. Juliette Coursimault, clinical geneticist, CHU Rouen, to take part in a symposium on the role of MYT1L in health and disease at these EACD and IAACD events.
Huge gratitude to Dr Moritz Mall for his support and this incredible opportunity to promote awareness and discuss future directions for MYT1L Syndrome at this world-leading conference focused on childhood-onset disabilities.
🔹 Program details of the MYT1L Mini-symposium chaired by Dr. Moritz Mall: Advancing Understanding and Care for MYT1L Syndrome: A Holistic Perspective
- Behavioral traits and multidisciplinary care for individuals with MYT1L syndrome
Juliette Coursimault, MD, Clinical Geneticist, Rouen University Hospital, France
- Insight into the molecular mechanisms and therapeutic options underlying MYT1L syndrome using human stem
cell models
Moritz Mall, PhD, Researcher, German Cancer Research Center (DKFZ), Germany
- Genetic testing, diagnosis, and possible drug treatments for MYT1L syndrome
Maja Hempel, MD, Clinical Geneticist, University Hospital Heidelberg, Germany
- Lived experiences and perspectives of families affected by MYT1L syndrome
Valérie Salomone, parent advocate, President, Les Extra-Vaillants MYT1L, France
More information : https://eacd-iaacd2025.org/
Many thanks to Gan Assurance and the Groupama Foundation
The donation requested by the association Les Extra-Vaillants MYT1L from the Groupama Foundation has two objectives:
1. The acquisition of an IPad 10 tablet and accessories for Les Vaillants (France) in order to :
Promote the development of alternative and augmented communication
Promote the development of learning
Promote the autonomy of people with MYT1L syndrome
The aim is to help families put in place more appropriate tools that are not covered by the MDPH or for which it still has to pay. A broader support fund is also a second objective.
=> For more information, contact: extravaillants@gmail.com
2. Welcoming and supervising families and Vaillants at the 2nd International Day for Families, Clinicians and Researchers on the MYT1L gene on 5, 6 and 7 JUNE 2025. To date, more than 115 people, Valiants and their families are expected from all over France and abroad (Chile, South Africa, Poland, Serbia, United States, United Kingdom).
Find the full publication on the Groupama Foundation website with testimonials from Familles de Vaillants (click on the underlined words)
TELETHON 2023
WALK FOR RARE DISEASES
PARIS- DECEMBER 9
😍🧡 SATURDAY, DECEMBER 9: WALK FOR RARE DISEASES - TELETHON 2023
Thank you to Alice, Clémence and Neïa our MYT1L Extra-Vaillants ambassadors!
Thank you to friends and family for being there with us for this very special moment! There were over twenty of us!
Well done Clémence for braving all the weather and making it to the end of the walk! You look magnificent with the Eiffel Tower behind you.
Bravo Neïa for being so strong and proud to hold the Vaillants sign for this walk, you're so cute.
Bravo Alice for taking the march all the way to the metro and the trunk of your car! We'll keep talking about the march in Rouen.
To all you Vaillants, we've been thinking of you!
Thank you Alliance Maladies Rares.
It was an intense day! A 1st Cross Solidaire for the association and the 12th for the Sacré Coeur and Ange Gardien schools and college in Domfront!
It will remain a vibrant memory and a support that will benefit Les Vaillants for a long time to come.
It was a moment of sharing, commitment, kindness and crazy warmth!
We formed a whole around the Vaillants, and their three little representatives of the day, Neia, Elsa and Alice.
Neia's family is originally from the region, so she was incredible! Thank you 🧡💛💙
They did it! They achieved the incredible! More than 9,000 euros!!!
Cross Solidarity October 13, 2023 - School and college of the Sacred Heart and school of the Guardian Angel - Domfront (Orne)
A huge bravo, a huge thank you! And these words are very weak!
Thank you to the students, teachers, families, friends, individuals and professionals… thank you for this crazy mobilization! 💚💜❤️
A special thought to Azéline who worked so that we could benefit from this incredible opportunity: "without you, nothing would have been so strong, so true, so incredible!" 🧡💚❤️
Sincerely, words fail to express our infinite gratitude. To all of you mobilized for us, to the Vaillants
To the association Les Extra-Vaillants MYT1L
❤️ It's huge! and the Vaillants say to them: "Thank you!"
National Congress of the Rare Diseases Alliance 2023
The challenges of the 4th National Plan for Rare Diseases (PNMR)
GOING FURTHER
Since the launch of the PNMR3, strong measures have been taken to reduce the number of people with rare diseases who are left without a diagnosis.
These measures still need to be consolidated in a fourth national plan for rare diseases.
It will also be a question of using new measures to go even further in this area of diagnosis, as well as improving access to treatments for rare diseases and to biotherapies by reinforcing the collection of health data and biobanks.
(extract "Towards a fourth national plan for rare diseases (PNMR4): for greater synergies between care and research", Ministry of Higher Education and Research - 28/02/2023). You can consult the full press release with the assessment of the previous NRDPs by clicking on the underlined words.
Collaboration with Dr. Moritz Mall teams
On February 14, 2023, Dr. Moritz Mall and his collaborators published:
"MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention”.
This publication highlights the interesting effect of a molecule called Lamotrigine on the behavior of mice with an anomaly in the MYT1L gene. Please note, for this study, the therapeutic trials were carried out only in mice. There are still many steps to know if it could work in humans.
The existence of the drug on the market, its already effective use in neurology and psychiatry are important factors that will save time in the study projects of the passage from mouse to human in order to define the real effectiveness. , necessary dosage and side effects for MYT1L patients.
It is likely that a new study will soon see the light of day, led by the team of Dr Mall (Germany) We should know more by the summer (feasibility, schedule, cost, coordination with the geneticists of Rouen and the 'association...). This opportunity should accelerate the clinical study on the behavioral disorders we have been talking about since the beginning of our collaboration with Dr. Coursimault and Dr. Guerrot.
TO GO FURTHER
Dr. Moritz Mall, of theHector Institutefor Translational Brain Research (HITBR), has long studied the role of the protein MYT1L in various neuronal diseases. He had agreed to answer questions from Jonte's parents about MYT1L syndrome. You will find the link of thisinterview translated into French on the German family page(click on the underlined words).
Mr. Mall has been conducting basic research on the MYT1L gene since 2012 and has had his own research group in Heidelberg since 2018.
PRH76: Departmental Thematic Day
EARLY CHILDHOOD AND DISABILITY
A day rich andynamisante with Norman actors around :
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initial identifications and orientation towards the diagnosis
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the diagnosis
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the diagnosis... and then?
Many useful resources for everyone
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PADLET produced by PRH76
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movie of the day : the themes are sequenced
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the first identifications and the orientation towards the diagnosis
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the identification actors
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tracking tools
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the diagnosis
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first level players
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second level actors
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the diagnosis... and then?
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an example of interdepartmental partnership: towards simplifying the process?
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common law resources at the service of families
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support for parents and support for professionals, valuing parental knowledge and increasing the power to act
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Click on the underlined words to access the resources (ONLY IN FRENCH)
1st day Families/Clinicians/Researchers around the MYT1L gene
November 25, 2022 - Rouen University Hospital
Highlighting the supports that made this incredible day possible
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Financial donations, more than 6000 euros collected which have contributed in particular to bringing together and welcoming families in the same place in Rouen
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Donations in kind for chocolate taste buds for young and old, toys for the treasure hunt of the children present, a warm and gourmet family drink, a salted butter caramel sweet to thank...
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Gifts of skills to develop communication tools, to awaken to music, plastic arts and dance, to supervise children on D-Day...
IN THE END WE REACHED
90% OF THE OBJECTIVE
THANK YOU !
Many thanks to all!
Together we are super strong! 💪😉🧡
📣📍COMPLEMENTARY DRAFT DESCRIPTION OF EATING DISORDERS LINKED TO THE GENE MYT1L
🔸 We have the great pleasure of relaying the information of the geneticists Dr Coursimault and Dr Guerrot of the reference center for developmental anomalies and malformation syndromes of the University Hospital of Rouen, concerning the complementary project of description of eating disorders linked to the geneMYT1L, which is part of the follow-up to the clinical-biological study carried out in 2020.
🔸 This project is a collaboration between the reference center for developmental anomalies and malformation syndromes of the Rouen University Hospital, and two professors, Pr Poitou Bernert and Pr Dubern, endocrinologists specialized in genetic obesity in adults and children. , respectively, practicing at the Pitié Salpêtrière Hospital and at the Trousseau Hospital and belonging to the PRADORT Reference Center for Rare Diseases. 🔸
For the moment, this is a project that only targets patients with an eating disorder, ie an eating disorder, or overweight, or obesity.
🔸 To carry out this project, your genetic doctors will contact you to present the project to you. For children, these are questionnaires to be completed by parents. For adult patients, help from a nearby adult may be needed. Then, you will have to retransmit these completed questionnaires to your geneticist, who will be responsible for transmitting the data to the Rouen team.
📍📍 If you are not asked and your child is affected by this issue, do not hesitate to contact your geneticist, or contact us: extravaillants@gmail.com to provide you with a solution.
👍 Another step in favor of all the Valiants to better understand, improve trajectories!
👍 Thank you to the doctors who are mobilizing with us around the geneMYT1L.
😍😍😍😍😍😍😍😍😍😍😍😍😍😍😍
Nathalie Engelmann, A horizon for Hélias
THANK YOU SO MUCH
😍 600 euros for our Vaillants 😍
THANK YOU for your incredible generosity! So precious for all Vaillants!
So happy to meet us, so grateful for the bond of heart that you have woven between Les Extra-Vaillants MYT1L and Un Horizon pour Hélias!
Lot of love and thank you again! Long live the Bretons and long live the salted butter caramel!⛵️🫂🤘👌👏 👏
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"We are here because it is important to show that you can do lots of things when you suffer from a disability... Even if it takes a little longer." Like more than 400 people, Valérie came with her daughter, who has a rare genetic disease, to participate in the "Course [extra]ordinaire" in Rouen (Normandy), this Wednesday, June 15, 2022. Excerpt from the articleFrance bleu Normandie
Easy to Read and Understand Training
Thanks to the AnDDI-Rares Health sector and Unapei, we followed a two-day training course on the design of communication tools in Easy to Read and Understand - FALC
Two days led by Hugo, enriching and productive, with professionals from the health and associative world. It was great and stimulating!
We are continuing the work we started and preparing tools for children. Just a little more patience....
Click on the underlined words for more information and resources in FALC
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Different Child (including literature resources)
Also discover SantéBD , a wealth of customizable comic strips to explain care and facilitate access to health for all.
June 2022
Easy to Read and Understand Training
Annual Scientific Conference
Rare Diseases Foundation
Collège de France - May 31, 2022
We had the pleasure of attending this conference where medical and health sciences rubbed shoulders with human and social sciences.
Needless to say, it was rewarding!
We invite you to connect to the YouTube channel of the Rare Diseases Foundation for a replay of the subjects which could interest you (reminder of the program ).
Following issues raised by certain families, we would like to refer you more specifically to an article on the complexity of monitoring patients in the transition from pediatrics to "adult" monitoring:
- " Between medical transition and passage to adulthood, a possible conflict of temporality for young people suffering from a chronic illness "
Agnès Dumas (University of Paris, Clinical epidemiology and economic evaluation applied to vulnerable populations - ECEVE, Inserm, University of Paris; and Research Group in Adolescent Medicine and Health - GRMSA, Paris)
Click on the underlined words to access the information.
OPERATION SALTED BUTTER CARAMEL
Thank you Nathalie Engelmann and all the lovely people who accompany her in the association "un horizon pour Hélias" for their sharing and their generosity.
Thanks to all the gourmands who bought the Salted Butter Caramel pots in support of the Extra-Vaillants MYT1L and a Horizon for Hélias. A few smiling faces to illustrate and tons of "HUMmmmm too good" received!
The amount collected will help set up the Families, Clinicians, Researchers day on November 25 at the Rouen University Hospital. APRIL 2022
Rare Diseases March on December 4, 2021
We are very proud to have participated in the Rare Diseases march this Saturday! There were 18 of us!!!!
Thanks to ALix for coming from Aix en Provence for this occasion, what a pleasure to meet her as well as her brother and her friends. Bravo to Alice for having held this long walk, for having been involved in it.
Thank you to our friends and families who came to share this special moment filled with pride, unity, warmth, kindness and hope!!!
Fabulous atmosphere and top organization! Thanks to the Alliance des Maladies Rares, all the teams, volunteers who made this moment incredible.
See you next year
We encourage you to go to the Rare Disease Alliance page, and watch the video of the interview Professor David Geneviève - Medical geneticist - Head of the inter-hospital genetics federation
We are proud, happy, mobilized!
The Extra-Vaillants MYT1L join the large family of the Alliance of Rare Diseases!
The Rare Disease Alliance represents the voice of 3 million French people affected by 7,000 rare diseases. It is integrated into the Rare Disease Platform, which brings together
The Rare Diseases Alliance
The Rare Diseases Foundation
Rare Diseases Info Services
AFM Telethon
Orphanet Inserm
EURORDIS Rare Deseases Europe
