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

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Content presentation

At start Goals Outcomes How did we do it Future

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11q: at start

History Setting of the goal Planning Communication Implications network on personal life

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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

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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

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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

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Outcomes (1)

Not being alone anymore

Conferences Research Specialized

scientists

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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

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More outcomes (3)

Research: Jacobsen, several publications Heart gene, publication 11q + (ongoing) Behaviour/sleeping problems (ongoing) Dysmorphic features (ongoing)

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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

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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

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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

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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?

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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?

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Thank you