Make known, Support, Inform, Engage, Collaborate.....
SAVE THE DATE
TÉLÉTHON 2023 - MARCHE DES MALADIES RARES
PARIS- 9 DÉCEMBRE APRÈS-MIDI 13H30/17H30
SAVE THE DATE
TELETHON 2023 - RARE DISEASES WALK
PARIS- DECEMBER 9 AFTERNOON 1:30 PM - 5:30 PM
Come and walk ALL with us under the MYT1L Extra-Vaillants banner!
It's fun, friendly and free!
🧡"GROUP" REGISTRATIONS: Nothing could be simpler, just fill in the association's questionnaire before November 10, 2023 , we'll take care of your registration and send you all the information.
💛 "INDIVIDUAL" REGISTRATIONS: Don't panic, you can still register after November 10 as an individual with the Alliance des Maladies Rares => https://fr.surveymonkey.com/r/3TZNXDZ
💙 RARE DISEASES WALK
A festive event of solidarity that brings together the rare disease community, organized as part of #telethon2023 .
The Walk for Rare Diseases is a great celebration of hope. Like every year, there'll be music and a colorful, festive atmosphere. You're sure to meet some joyful, intense and unforgettable people!
Rendezvous at 1:30 p.m. in the Jardin du Luxembourg, near the bandstand, to start this beautiful 7km walk (arrival scheduled for around 5:30 p.m.)! Buses will be available if you need to limit or split your physical effort (ask for details!).
Muscle up your voice, get your smiles ready and, together, let's walk to show our solidarity and determination to beat rare diseases!
Once again this year, a DRESS CODE will be offered to walkers, who are invited to add a touch of orange to their outfits, in addition to the pretty orange hat donated by the Alliance! Surprise us!
See you soon! 💙🧡💛
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've done it!
They did the incredible!!!
October 13, 2023
Ecole et collège du Sacré Coeur et
école de l'Ange Gardien - Domfront (Orne)
A huge bravo, a huge thank you! And these words are very weak!
Thanks to students, teachers, families, friends, individuals and professionals..... thanks for this crazy mobilization! 💚💜❤️
A special thought to Azéline: "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
When children mobilize to help other children with special needs...
❤️ This is huge! Thanks from the Vaillants!
We owe this wonderful opportunity to a young lady by the name of Azéline, who rallied round on behalf of her little cousin and all the Vaillants.
She introduced the association to her classmates as part of a school project, and lobbied for us to be the lucky beneficiaries of this year's CROSS SOLIDAIRE for her school and associated elementary schools - Sacré Coeur, Ange gardien and Collège du Sacré Coeur de Domfront.
A huge, huge thank you to Azéline and all the students and their teachers for this outpouring of their hearts, which means so much to us! Every year they mobilize, and you can find out more about their actions here :
We had the great pleasure of meeting and talking with the students on Friday 22/09/23.
Here are a few images, a publication and a VIDEO presenting the pathology and the association to the schoolchildren (simplified video for school level available on request).
National Congress of the Rare Diseases Alliance 2023
The challenges of the 4th National Plan for Rare Diseases (PNMR)
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:
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 :
initial identifications and orientation towards the diagnosis
the diagnosis... and then?
Many useful resources for everyone
PADLET produced by PRH76
movie of the day : the themes are sequenced
the first identifications and the orientation towards the diagnosis
the identification actors
first level players
second level actors
the diagnosis... and then?
an example of interdepartmental partnership: towards simplifying the process?
common law resources at the service of families
support for parents and support for professionals, valuing parental knowledge and increasing the power to act
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
Financial donations, more than 6000 euros collected which have contributed in particular to bringing together and welcoming families in the same place in Rouen
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...
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 !
Thank you so much !
Together we are super too 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: firstname.lastname@example.org 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!⛵️🫂🤘👌👏 👏
"We're here because it's important to show that you can do lots of things when you have a disability...Even if it takes a little longer." Like more than 400 people, Valérie came with her daughter, carrier of a rare genetic disease, to participate in the "[extra]ordinary race" de Rouen _cc781905-5cde-3194-bb3b- 136bad5cf58d_(Normandy), this Wednesday, June 15, 2022. Article excerptFrance 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 health professionals and associations. It was fun and stimulating!
We continue the work started and prepare tools for children . A little more patience….
Click on the underlined words for more FALC information and resources
Also discover SantéBD , a wealth of customizable comics to explain care and facilitate access to health for all
Easy to Read and Understand Training
Annual Scientific Colloquium
Rare Disease Foundation
College of France - May 31, 2022
We had the pleasure of attending this symposium where medical and health sciences rubbed shoulders with human and social sciences.
Needless to say that it was rich!
Following the issues raised by certain families, we are giving you more specific information on an article on the complexity of patient follow-up in the transition from pediatrics to "adult" follow-up:
Agnès Dumas (University of Paris, Clinical epidemiology and economic evaluation applied to vulnerable populations - ECEVE, Inserm, University of Paris; and Research group in medicine and adolescent health - GRMSA, Paris)
Click on the underlined words to access the information.
SALTED BUTTER CARAMEL OPERATION
Thank you Nathalie Engelmann and all the pretty people who accompany her in the association "a horizon for Hélias" for their sharing and their generosity.
Thank you to all the gourmands who bought the pots of Salted Butter Caramel 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 raised will help to set up the Families, Clinicians, Researchers day on November 25 at the Rouen University Hospital. APRIL 2022
Rare Disease Day 02/28/22
HANDINAMIC day CHU of Rouen
A look back at International Rare Disease Day on February 28. The monuments of several cities in France are illuminated in green colors, pink and blue thanks to the action of the Alliance des Maladies Rares and the wonderful welcome from the municipalities. Find all the images on the Facebook page of the Alliance des Maladies Rares (click on the underlined words).
In the wake of this colorful Monday, the HANDINAMIC day was held at the Rouen University Hospital. A big THANK YOU to the genetics teams of the Rouen University Hospital for their welcome, their warmth, their support, their commitment! The beautiful encounters continued with the discovery of associations, athletes and committed artists!
A dynamic that gives wings to our everyday heroes.
March of Rare Diseases of December 4, 2021
We are very proud to have participated in this Saturday's Rare Diseases march! We were 18!!!!
Thanks to ALix for coming from Aix en Provence for this occasion, what a pleasure to meet her as well as her brother and his friends. Congratulations to Alice for having held this long march, for being involved in it.
Thank you to our friends, our families, who came to share this special moment filled with pride, unity, warmth, kindness and hope!!!
Fabulous atmosphere and organization at the top! Thank you to the Rare Disease Alliance, all the teams, volunteers who made this moment incredible.
See you next year
We encourage you to go to the page of the Alliance des Maladies Rares, and to watch the video of the interview Professor David Geneviève - Medical geneticist - Head of the inter-hospital genetics federation
We are proud, happy and mobilised!
MYT1L Extra-Vaillants have joined the Alliance des Maladies Rares family!
The Rare Disease Alliance represents the voice of 3 million French people affected by 7,000 rare diseases. It is part of the Plateforme des Maladies Rares, which brings together
- The Rare Disease Alliance
- The Rare Diseases Foundation
- Maladies Rares Infos Services
- AFM Telethon
- Orphanet Inserm
- EURORDIS Rare Diseases Europe