1. The impact of a small parental network How 11q improved research, knowledge, contacts and support Annet van BetuwFormer president of the EuropeanChromosome 11q Network

2. Content presentation At start Goals Outcomes Howdid we do it Future Eurordis, Krakow, 15 May 2010 - Annet van Betuw 2

3. 11q: at start History Setting of the goal Planning Communication Implicationsnetwork on personallife Eurordis, Krakow, 15 May 2010 - Annet van Betuw 3

4. Setting of a goal Goals 11q: Finding and supportingpersonswith a very rare disorder on the long arm of chromosome 11 Exchanginginformation and experiences Beinganeffective research base for ‘our’ scientists to obtainvalid research results Eurordis, Krakow, 15 May 2010 - Annet van Betuw 4

5. Wow, even more goals Fightingagainstsocial and medicaldiscrimination Organising conferences, reportingaboutit Be a model forpeopleaffectedwithother rare syndromesordiseases and to encouragethem: Youcanbesuccessfull as a smallgroup Eurordis, Krakow, 15 May 2010 - Annet van Betuw 5

6. Possible disorders on 11q Terminal deletion: loss of a piece at the end of 11q (JacobsenSyndrome) Partialtrisomy: Part of a chromosome is triplicatedinstead of duplicated Interstitialdeletion: Loss of a piecewithin the long arm Unbalancedtranslocation: A piece of anotherchromosome is attached to chromosome 11 q Eurordis, Krakow, 15 May 2010 - Annet van Betuw 6

8. Outcomes (2) 6 international / European meetings Severalnationalmeetings Contact to othernetworks on rare chromosome disorders / diseases (Eurochromnet, Eurordis) = exchange of experience and cooperation Eurordis, Krakow, 15 May 2010 - Annet van Betuw 8

9. More outcomes (3) Research: Jacobsen, severalpublications Heart gene, publication 11q + (ongoing) Behaviour/sleepingproblems (ongoing) Dysmorphic features (ongoing) Eurordis, Krakow, 15 May 2010 - Annet van Betuw 9

10. Howdid we do it (1) Website E-mailing Communication = personal contact Consequent planning Having a team to rely on Understanding of private situation Finding support fromoutstandingmedical experts Having a scientific team to rely on Acknowledgement of scientific research Activelysupportingmedical experts Eurordis, Krakow, 15 May 2010 - Annet van Betuw 10

11. Howdid we do it (2) Observingourchildrenwell Listeningcarefully to personalstories Acknowledgement of personalexperience Generalizingpersonalexperience Bringing parental knowledge and experienceintoscientificarena Parentsstaying in control of the network Eurordis, Krakow, 15 May 2010 - Annet van Betuw 11

12. Importance of meeting Conferences: content based on personalquestions Organisation: based on knowledge and experience of parents Givingspace to meet Givingspace to discuss Inviting speakers whowilladjusttheirknowledge to whatnetworkneeds Children and families first, next step is research Cooperation in research on strictagreement Eurordis, Krakow, 15 May 2010 - Annet van Betuw 12

13. Having a look at the future Lessfundingfor research? Stillhardlyany research for ultra ultra rare chromosomal disorders? Need to meet continues, more and more countries in Europejoin. Is a smallnetworkstillable to handle? Eurordis, Krakow, 15 May 2010 - Annet van Betuw 13

14. Web 2.0 ? Web 3.0 ? 11q startedinthe ‘web 1.0’ era: sending Web 2.0 is aboutsharing, conversation Whatwill web 2.0 bring? And web 3.o? Social media likeFacebookonlysuccesfullthroughactivemastering New possibilities: E-health and online consulting Is a smallnetworkable to handlethis? Role of Eurordis? Eurordis, Krakow, 15 May 2010 - Annet van Betuw 14

15. Thankyou Eurordis, Krakow, 15 May 2010 - Annet van Betuw 15