Don attended this important event. Here’s what he had to say:
Rare Connect Community – It was good to meet with Robert Pleticha who has been instrumental in helping us set up our own profile and connections across Europe with this incredibly powerful and professional platform. We have now managed to connect with personal stories and medical professionals through multiple translations and share with like minded advocates, researchers, families, individuals all across Europe. This community has the capacity to become an international resource hub and lead to many more families, institutions and medical professionals with a common interest in r(20) A good number of you have already contributed to this resource and eminent groups from France and Italy have recently connected check out the link here to see what’s happening https://www.rareconnect.org/en
BPSU – Richard Lynn Scientific Director
Don had the chance to spend time in discussion with Richard Lynn from BPSU again and talk around the opportunities for potential r(20) questions to be included on the survey panel that is circulated amongst the entire UK paediatric community. It enabled Don to get a better understanding of the purpose of the unit, how it works and the considerations that the advisory board are looking for in terms of patient related outcome experiences and patient related outcome measures. For example, if we are seeking an independent study? or to have specific questions included as part of a general epilepsy panel related to rare disease, intractable epilepsy monitoring/testing.
OpenAPP – patient registry
Both Professor Cross and Richard Lynn suggested the requirement for a patient registry for r(20) which we do not yet have – and Don was able to meet with a new provider of such a tool who was exhibiting at the conference called Open APP.
Rare diseases are highly heterogeneous. International interoperable registries are particularly important for rare diseases. They bring together a small patient population which can be used to initially complete a natural history of the disease and then engage with academia and pharma companies. Patient Registries, ultimately, improve the quality of life of patients. Registries allow clinicians to discover the best care path for a disorder and then measure patient progress along that care path. Patient registries constitute key instruments for the development of natural history studies, the improvement of patient care, healthcare planning and quality of life outcome – “If it can be measured, it can be managed.”
This tool has been developed by a team in Ireland and we now have the project details that we will be discussing at the next trustee meeting in early July before circulating to members shortly. The good news is its FREE development for up to 100 first cases! To sustain anything beyond that number will require funding which we will apply for in due course.
Birmingham Children’s Hospital Rare Disease Centre
Had the opportunity to share with Dr Larissa Kerecuk who is Rare Disease Lead and Consultant Paediatric Nephrologist at Birmingham Children’s Hospital. She has welcomed the opportunity of sharing these tremendous new facilities with our patient group for conferences, or meetings you can see the scope of the facility here http://www.bch.nhs.uk/news/article/14103-hospital-unveils-images-brand-new-%C2%A3375million-clinical-block
I was also able to obtain some valuable learning for our group by attending 3 days of programme presentations covering a wide variety of topics like:
– Research Ethics
– Establishment of European Reference Networks (ERN) model for rare diseases
– Social Innovation for better care for rare diseases
– Patients empowered in research & diagnosis
– Breaking through in diagnosis
– The impact of social media on globalisation: new knowledge and advocacy
– Boosting rare diseases in a global collaborative research environment
– Patients need accurate diagnosis
We can give all our members access to any of these presentations, so if you are interested in further details please contact Allison Watson.