23
Mar
2017

WaihonPedia Platform:  a Source for Knowledge Development and Research for Cornelia de Lange syndrome

Last modified by Gerritjan Koekkoek on 2017/03/23 09:17
23
Mar
2017

WaihonPedia Platform:  a Source for Knowledge Development and Research for Cornelia de Lange syndrome

Last modified by Gerritjan Koekkoek on 2017/03/23 09:17

Gerritjan Koekkoek1 and Sylvia Huisman2


All people are unique individuals. A very small number of the babies born are even more unique because they are born with a rare difference (syndrome). Because of this, general recommendations for specific syndromes do not always fit for the particular condition, especially a rare one like Cornelia de Lange syndrome (CdLS).  

There is much energy put in dealing with common aspects of wellbeing, mostly because our society wants to do things efficiently, and conditions that are common have priority. One of the reasons that these common approaches seem to fail for children with CdLS is the fact that they are specifically different!

We wanted to develop a platform where families, caretakers, teachers, doctors, therapists and researchers could see, discover, and learn paths to more happiness and more well-being for an individual with a rare syndrome, such that it would be possible to;

  1. Find well-developed treatments and advice to build a personal education/careplan; 1. Ask questions to enrich this care plan; 
  2. Collect data that can be shared with educators, doctors and researchers; and 
  3. Reach out to other families and experts to discuss and learn from each other and improve the knowledge and practices available (and where needed to create the missing pieces). 

This is based on the structure and trust build into foundations, which are communities of families for families. 

This platform will be called WaihonaPedia, from Waihone - treasure/dear from the Hawaiian language. 

The platform will be owned by families or caretakers, and professionals will be invited to participate.  It will become a source for knowledge development and research, as well as improving discussions between families and professionals.  The WaihonaPedia platform will support the following four functions:  

  1. Knowledge and practice development, including ease in readability of the protocols; 
  2. Closer look at shared stories from families’ experiences including being responsible for editing, lack of harassment, no violation of copyright or other laws with published sources, and “doing no harm” regarding the infrastructure; 
  3. Questions put forth and answers by experts, which might generate areas for research; and 
  4. Questionnaires and/or score cards to compare the child’s findings with others affected, under the auspices of recognized experts.  Families will be able to capture data about their child and share it with peers, school, hospital or researchers.

This project was proposed by the Dutch Ministry of Health and has been presented to the European Union to run from 2016 to 1019 and to include eight parent foundations.  One of these is the CdLS Vereniging, with collaboration with the Amsterdam Medical Centre and University; the Cornelia de Lange Centre, an approved expertise centre for Cornelia de Lange syndrome, Pitt-Hopkins syndrome, Marshall-Smith Syndrome and Rubinstein-Taybi syndrome.  

The project is based on the prototype platform www.cdlsworld.org, where the World Federation of Cornelia de Lange syndrome patient groups have been collaborating for the past 10 years.  
Many of its functions are based on initiatives started by the USA CdLS Foundation, including the Ask the Expert section.  
We will present our initial proposal and progress to date and discuss our plans for the future.

  1. ^ Father of Rai (CdLS), Chairman of CdLSWorld.org, and Chairman of the CdLS vereniging (Netherlands and Belgium)
  2. ^ Chair of worldwide SAC, Medical director of Dutch CdLS Vereniging, Amsterdam University, Amsterdam, NL
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