Report from the meeting of representatives of national associations of 22q11 deletion syndrome as part of 22q11 Europe

27-28/04/2024 – Brussels

Present:

Summary

1) The financial statements for 2023 have been adopted. The minutes from the previous association meeting 22q11 in Dublin have been accepted.

2) GenIDA: a representative of the French private genetic registry of patients with intellectual disabilities presented the GenIDA project. It contains data from approximately 2,000 participants from over 60 countries, based on anonymous data from an extensive but general questionnaire developed by specialists. GenIDA strives to update data regularly. Scientists interested in the data can receive access (for free) and can also request complementation of the data with additional questionnaires or medical documents.

Discussion: we need such a register so that scientists can continue research on 22q11, but our register should be more detailed, i.e. the questions in the questionnaire should be developed by specialists in a given field, e.g. cardiologists, psychiatrists, who also know about 22q11 , and the register should also contain medical documents, test results, and samples (e.g. voice recordings, biological samples). Such a registry can be quite expensive to set up and maintain. Although Stephan Eliez’s experience with the cost of collecting such data and storing it is quite optimistic, the rest of the meeting participants were quite sceptical. A topic for further discussion

3) European Conference 22q11 in Brussels, 22-23/11/2025

The conference will be held in Brussels on the weekend of November 22-23, 2025. There will most likely be no costs for renting rooms or organizing translations, because, as was the case in Dublin in 2023, we will use simultaneous translations offered by e.g. Teams. The ticket price for the participant should not be higher than before, i.e. EUR 60. The conference will not be broadcast live, but after the conference, presentations and short descriptions will be posted on the 22q11 Europe website.

The conference program will be partially divided according to the age of those interested, i.e. there will be separate sessions for children and separate sessions for adults. The topics (Maude Schneider is responsible for the scientific content) are inspired by feedback from participants of previous conferences, and will include, for example, mental problems, sleep, gastrointestinal and orthopaedic problems.

Discussion: It would be good to organize a session allowing participants to have more direct contact with specialists, most likely through the so-called “world café method”, i.e. each specialist would have a table with chairs at his disposal, and participants could sit there and talk. Another issue is the division into age groups – would it be possible to organize separate sessions for young adults (16-26 years old) and other adults (26+)? A topic for further discussion.

Communication about the conference must start early enough, e.g. “save the date”, then an outline of the program, then potential speakers, etc.

Taking advantage of the fact that the conference will be in Brussels, we would like to add a short session to the program with representatives of the European Commission, European Parliament, Eurordis, etc. The aim would be to present to participants what is being done at the EU level in the field of rare diseases, mental health, protective services health, etc. and enabling representatives of institutions to become familiar with the topic of 22q11, making them aware of how many of us there are and what difficulties we face.

4) Communication and awareness raising

The communications team, i.e. an external agency that runs social media accounts, the website and prepares press materials, is responsible for the communication activities of 22q11 Europe.

Discussion: The Communications team asks for topics, stories, photos, videos, podcasts, etc. to enrich our communication at European level. It would be good to exchange such materials between associations. For example, Germans have recorded a lot of videos and podcasts that could be easily translated using mechanical translations and AI. Similarly, MOOCs could be used even more, e.g., shorter fragments translated by AI. Paul would also like to create a common repository of information materials. Every association has something interesting and it could all be kept in one place for use by the European team and national associations.

5) 22q11 Europe goals for 2024-26

The goals are divided into thematic groups, each goal was discussed in separate working groups:

• communication and awareness raising

• adult topics

• cooperation with scientists

• creating a network of specialists

• finances

The topics of adults and finances will be discussed further.

Cooperation with scientists will continue, and it would be best to have more data, e.g. a patient register. The working group agreed to develop a questionnaire for PhD students potentially interested in research on 22q11, in which they would have to describe the topic of their research and indicate what data and information they would need, e.g. publication on association websites to recruit participants. Doctoral students would be required to present the results of their research to our community.

In terms of communication and awareness raising, the 6-person working group (Silvia, Esther, Magda, Mieke, Vesna, Paulina) identified two main areas: communication with the wider public and families, and communication with institutions, politicians, etc.

Broader communication:

Awareness Day and the entire month of November should be better used, there should be more messages and they should be more unified at the European level. We should include the 22q11 Europe logo and tag the European organization in our materials. The Communications team could prepare more materials for use, using existing materials used by national associations. The Communications team should also prepare a guide, i.e. step-by-step actions, ideas, contacts, templates of letters and e-mails, press releases, etc. that would help national associations prepare for Awareness Day and other activities.

Communication should be more regular, not only in November. There is an idea to publish content on social media and websites on the 22nd of each month regarding a specific topic that would be consistent throughout Europe, e.g. on February 22, everyone publishes material about cardiological problems. The Communications team would multiply these messages, combine them and publish them further. Of course, the associations could of course exchange what they have on a given topic beforehand. The list of topics will be developed by the working group. The group will also meet with the communications team as soon as possible to determine the plans and scope of their and our activities. We plan to start monthly campaigns from September 2024.

Communication with institutions and politicians:

Paulina will start organizing meetings with representatives of EU institutions, where Paul could explain 22q11 to them. We should also more actively join the Rare Disease Day organized by Eurordis, events organized by e.g. Mental Health Europe, etc. Maybe we could organize an exhibition of works or a concert in Brussels?

6) Screening – New Born Screening

This is a topic that Eurordis has been heavily focusing on lately. Paul showed preliminary results of a survey conducted by Eurordis (Rare Barometer), and the full report will be available soon. 52 people from the 22q11 community took part in the survey. In general, respondents supported the idea of ​​22q11 screening, with the caveat that parents had the right not to want to know the result.

22q11 Europe would like to continue this topic, so an inquiry was sent to several potential consultants whether they would like to prepare such a project and how much it would cost. After receiving the offers, the Management Board of 22q11 Europe will decide whether we can do something and whether we have the funds to do so.

7) 22q11 duplication syndrome

The German association presented its experience of joining the association for people with 22q11 duplication syndrome, which is more common than deletion syndrome, but the symptoms are rather milder. Few people with duplication are even diagnosed. Those who exist and need support do not have their own group. German experience shows that combining forces brings good results, that you can speak with a stronger voice, e.g. vis-à-vis decision-makers, but also that it is worth maintaining separate events or groups on WhatsApp, at least at the beginning.

Discussion: Opinions are divided because some believe that these are two completely different syndromes, while others believe that there is some similarity – the same chromosome and some similar symptoms (e.g. development of speech, language, communication, autism, ADD, behavioural problems). For now, the topic is under observation.

8) Sharing the experiences of national associations

Ireland: The most important event is the introduction of the “22q11 health passport” – promotional video: https://vimeo.com/909857141. The passport attracted interest from other associations. In addition, there is a program for parents and young adults, promotional videos and other activities. The association applied to the Petsky Gnats program (CBT therapeutic support for young people using the Internet). He runs a specialized 22q11 clinic that is very successful and very useful.

Poland: Presentation of the most important events, including a teachers’ conference, a family reunion, a summer camp, a concert in Krakow and an art exhibition, among others.

Serbia: Activities common to the countries of the former Yugoslavia, as there are no associations in the remaining countries. Limited resources and opportunities, especially lack of volunteers, but they are trying to spread awareness and provide support.

Spain: They organize schools for families, commercial sales, meetings for parents and children, and many promotional activities. The STOP Bullying campaign includes conversations in schools and universities (as part of the education of current and future teachers and other professionals), the material is available online and in a special booklet

(also in English: https://22q.es/docs/files/83_guia-22q11-eng-af-web.pdf ).

Germany: For several years he has been running a very successful program – Media Team – which has won awards in the inclusive media category. With the help of an external media education agency (financing comes from a public foundation from which the association received a grant; in general, they finance their activities largely from grants from public institutions), a group of young people from 22q learns how to use equipment (cameras, microphones, editing programs). and processing, etc.) and conducting interviews, recording videos, etc. The young people are very involved, they also meet on weekend trips and have a group chat. They could prepare materials for next year’s conference in Brussels and for communications on the 22nd of each month.

https://www.wirsind22q.de/aus-dem-verein/medienpaedagogik

Belgium/22q11 Flanders: The “Thank you for seeing me” campaign was very successful. They also changed the website and name from Vecarfa to 22q11 Flanders. They organized mini conferences and a one-day meeting of families and a trip to the zoo.

Belgium/ Relais22: They have organized mini-conferences and are launching a young adult group.

UK: They actively raise funds through sponsorship, charity events such as golf matches, participation in runs and others. They use the support of a specially employed person to collect funds. They organize trips to the zoo, children’s camps, and meetings. They changed the logo and renovated the website. They have over 2,500 members and the number is growing very quickly. Unfortunately, the specialist clinics they run are under siege and queues for consultations are very long.

Italy: They run a radio station (https://webradio.aidel22.it /, funds come from a religious institution), where the material and music are prepared by young people from the 22q. This is a job for people without education and without a job, and they also learn how a radio works. They prepare interviews, podcasts, etc. In addition, the association has prepared a guide about 22q, which families going to medical boards (e.g. for a disability decision) can provide to doctors. The guide draws the attention of medical examiners to aspects and symptoms that may not be visible at first glance during a short examination. The association also organizes a camp for young people to learn independence, and raises funds through charity campaigns.

Switzerland: The association is not very active due to the division of the country into regions and different languages, and the fact that the Swiss health care system is very efficient and families do not often seek help further . However, the association provides more individualized help. Experience from recent years: moving the family meeting from physical to online meant that virtually no one came to the physical meeting. They decided to hold only physical meetings.

At the end Paul thank everyone for such a fruitful meeting.

Next year 22q11 Europe associations Meeting will take place in London (date to be confirmed – April/May 2025)