The 2009 Cornelia de Lange Syndrome World Conference was hosted by CdLS UK and Ireland (www.cdls.org.uk/) last week. Brighton saw families gather to make new friends, resume old friendships, share experiences and generally have a fun time. I think the Italian CdLS group brought around 25 families to the UK and I meet people from as far a field as Argentina, Australia and the US!
The family conference took place on Friday and Saturday with health professionals providing one-to-one consults and presentations on a range of issues that impact those with CdLS (including challenging behaviour, reflux, speech and language therapy and seizures). Whilst the parents were listening to the talks, the youngsters had the chance to see some of Brighton (in between the rain!) with trips organised to local attractions. There were also art activities (only slightly dryer than outside!) and even a BigBrother style diary room set up for siblings. As CdLS is a very complex condition that affects individuals in a range of ways, families are often faced with explaining the condition to every new doctor and nurse they meet. At these conferences they get the chance to speak with health professionals who have seen the condition before and understand their needs. I can only imagine how important this is to them.
I was there having got involved with the Foundation a number of years ago whilst working in the labs researching the genetic basis of CdLS [see pic of me in my youth(!)]. Three genes and a number of years later there are still more questions than there are answers but it is good to know that the research still continues to try and understand how the molecular changes relate to the physical and behavioural characteristics. Before the family conference, the Foundation hosted a one day scientific meeting for those working in the field to share the latest research. They also held a one day professionals conference open to health and social care, that looked at Autistic Spectrum Disorder with a focus on CdLS. Chris Oliver (Birmingham University) and colleagues launched their new DVD and booklet ‘Understanding and Changing Challenging Behaviour in CdLS’ (part of the Three Syndromes study that has seen them working extensively with the Angelman Syndrome Support Education and research Trust and the Cri du Chat Syndrome Support Group). If you’ve got time do take a look at the CdLS website …and if you’re able to make a donation (however small) please do. Those with rare conditions need as much information, support and research as those with more well known conditions, but they have fewer people to do the fund raising for them.