Don had the opportunity of attending two events so far this year on behalf of our charity to raise awareness and learn more about building bridges and our capacity in order to achieve some of our core aims and objectives. The first was meeting was one that Professor Helen Cross and our medical adviser Sophia Varadkar both agreed would enable us to reach the paediatric community.. This group of medical professionals are the group that get to see young children presenting with seizures. At this point we all know how important being able to rule out r(20) at an early stage is, or make being able to give an accurate diagnosis in order to avoid potentially unnecessary treatments. Until now we have never had the opportunity to reach out to this group.
Reading recent case histories from Callum’s and Tilly’s patient stories reinforces the importance of getting early knowledge and interventions in this area to as many institutions as possible in order to pick up the undiagnosed and identify future diagnoses. If we go some way towards achieving this through our presence at these conferences many more cases will be picked up and in turn grow the r(20) community and the capacity for research and action.
One key insight Don discovered from talking with this group was that paediatricians in the UK do not get to see EEG’s as part of their clinical evaluations, so they would not be able to pick up any irregularities in this data. Recent research from the French Epileptologist Arnaud Biraben’s abstract points towards a distinctive EEG pattern in r(20)
Don was able to engage with a good number of paediatricians from all over Europe (some at the is event and
Key Connections –
British Paediatric Surveillance Unit (BPSU) – Don was fortunate to meet with the research director Richard Lynn and sat in on their presentation. They can survey the whole, or segments of the paediatric community with a quarterly survey that look at the following:
¨ The condition – natural history – when does it present?
¨ The test – is it adequate, consistent, adequate, accessible?
¨ The intervention – does it make a difference, is there any delay?
¨ The screening programme?
¨ Implementation procedure p when does treatment begin?
Being able to put r(20) on this map would have significant impact from an awareness and registry perspective. Also provide valuable reporting data for future potential diagnosis and treatment protocols, as well as research opportunities. Watch this space!