As I write this update for this particular conference it struck me how quickly time has passed over the past decade and my personal involvement with r(20) syndrome . I mention this only in context of the number of meetings, conferences, family visits, conversations and engagement with many professionals around the world over the years. Certainly as part of this new team and the new organisation (Research Support UK) I sense a new chapter has begun. There is no doubt in my mind that this particular opportunity was very important in helping to establish new connections with a significant group of professionals we have previously not engaged with.
I know from past experience how costly outreach to professionals can be and our successful application to the Big Lottery Fund to enable this outreach has been a terrific shot in the arm for Ring 20 Research Support UK. We received funding to attend two conferences of which this was the largest.
There are so many factors involved in attending these events – many hours of preparation producing updated literature, stand materials, transportation and that’s before the event actually begins. This particular event was held across four days and hosted over 2,000 delegates from over 40 different countries. In fact, I recorded speaking with delegates from 26 countries from all four corners of the globe, not just Europe.
I could spend lots of column inches telling you about the many conversations I shared (I did share some on twitter and face book )but wanted to try and give you the highlights here.
One of the interesting features of events like this is you do have time to learn from other charities trying to do much the same thing and what works for them. That said, the main highlights were talking to geneticists, clinicians and counsellors who were testing for rare disorders some of whom were familiar with r(20) and of course those who were not. Interestingly I talked with one of the lead research team who was involved in a abstract research paper that documents 5 cases of r(20) a number of years ago from Holland – D Lindhout Professor of Medical Genetics. He suggested some different avenues for research moving forward which I have passed on to our medical advisor Sophia Varadker. I also connected with the geneticist from Iceland who recently diagnosed the first known set of twins with r(20) who took our literature to pass on to the family and colleagues.
Dr Jean Charles Hoda from Switzerland is setting up a foundation to help identify rare diseases and he had never heard of r(20) so I am following up to make sure we are represented in that endeavour. Geneticists from Austria and Slovakia have suspected cases and look to do more testing to rule out r(20). A team from Oxford had not heard of r(20) and were pleased to take away more information (and enquire if we were available to speak at their institution) as were a good number of other individuals from the UK and abroad. All those professionals that completed our stand questionnaire are being followed up be me personally, which will help us to further improve levels of diagnosis and awareness.
I personally learned more from interacting, observing and listening to individuals and groups at this event. Only when you attend major events like this do you get a idea of the scale of our mission and need for increased awareness, more understanding about the condition and the best way to help improve outcomes for families. I consider it a privilege to be part of this endeavour and look forward to sharing more and keeping everyone informed.