the impact of a small parental network
DESCRIPTION
How the European Chromosome 11q Network improved research, knowledge, contacts and support. Presentation workshop Expert Centres for ultra rare diseases, Eurordis Conference,15. May 2010, Krakov, PolandTRANSCRIPT
The impact of a small parental network
Annet van BetuwFormer president of the European Chromosome 11q Network
How 11q improved research, knowledge, contacts and support
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 2
Content presentation
At start Goals Outcomes How did we do it Future
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 3
11q: at start
History Setting of the goal Planning Communication Implications network on personal life
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 4
Setting of a goal
Goals 11q: Finding and supporting persons with a
very rare disorder on the long arm of chromosome 11
Exchanging information and experiences Being an effective research base for
‘our’ scientists to obtain valid research results
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 5
Wow, even more goals
Fighting against social and medical discrimination
Organising conferences, reporting about it
Be a model for people affected with other rare syndromes or diseases and to encourage them: You can be successfull as a small group
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 6
Possible disorders on 11q Terminal deletion:
loss of a piece at the end of 11q (Jacobsen Syndrome)
Partial trisomy: Part of a chromosome is triplicated instead of duplicated
Interstitial deletion: Loss of a piece within the long arm
Unbalanced translocation: A piece of another chromosome is attached to chromosome 11 q
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 7
Outcomes (1)
Not being alone anymore
Conferences Research Specialized
scientists
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 8
Outcomes (2)
6 international / European meetings Several national meetings Contact to other networks on rare
chromosome disorders / diseases (Eurochromnet, Eurordis) = exchange of experience and cooperation
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 9
More outcomes (3)
Research: Jacobsen, several publications Heart gene, publication 11q + (ongoing) Behaviour/sleeping problems (ongoing) Dysmorphic features (ongoing)
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 10
How did we do it (1)
Website E-mailing Communication =
personal contact Consequent
planning Having a team to
rely on Understanding of
private situation
Finding support from outstanding medical experts
Having a scientific team to rely on
Acknowledgement of scientific research
Actively supporting medical experts
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 11
How did we do it (2)
Observing our children well
Listening carefully to personal stories
Acknowledgement of personal experience
Generalizing personal experience
Bringing parental knowledge and experience into scientific arena
Parents staying in control of the network
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 12
Importance of meeting
Conferences: content based on personal questions
Organisation: based on knowledge and experience of parents
Giving space to meet
Giving space to discuss
Inviting speakers who will adjust their knowledge to what network needs
Children and families first, next step is research
Cooperation in research on strict agreement
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 13
Having a look at the future Less funding for
research? Still hardly any
research for ultra ultra rare chromosomal disorders?
Need to meet continues, more and more countries in Europe join. Is a small network still able to handle?
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 14
Web 2.0 ? Web 3.0 ?
11q started in the ‘web 1.0’ era: sending
Web 2.0 is about sharing, conversation
What will web 2.0 bring? And web 3.o? Social media like Facebook only
succesfull through active mastering New possibilities: E-health and online
consulting Is a small network able to handle this?
Role of Eurordis?
Eurordis, Krakow, 15 May 2010 - Annet van Betuw 15
Thank you