aPODD Review - Rare Disease Tea Party - British Paediatric Surveillance Unit, Wednesday 10th July 2019, London
Tea was served and though I couldn't sample any of the wonderful cakes on offer, they all looked scrumptious!
But there was more to this afternoon than just tea!
Baroness Blackwood was the first key note speaker, showcasing the genomic advances in the UK for children with rare diseases, committing to a strategy for rare diseases beyond 2020, based on inclusive dialogue with doctors, parents, and patients.
Junior doctors and medical students highlighted the gap in their education, and even awareness, surrounding rare diseases. Changes are afoot as a non profit, set up by a junior doctor, with the aim of improving the relationship between patient and doctor as well as spending up diagnosis. Visit www.m4rd.org for more information.
It was very interesting to hear about the work carried out in Addenbrookes' Hospital, one of the thirteen specialised Genomic Medicine Centres offering Whole Genome Sequencing to children in intensive care. Also, we look forward to status updates on the government's goals to sequence 5 million genomes within 5 years! A potential game changer for all children with rare diseases and of course cancers.
Also highlighted was the work carried out by BPSU in facilitating research into rare diseases. This was best exemplified by the award of the Sir Peter Tizard Research Bursary to Dr Chenqu Suo. Dr Suo's registry of CRMO (chronic recurrent multifocal osteomyelitis), an ultra-rare disease, will collect data from all paediatricians who get such patient cases across the UK. Using this information, she and her fellow colleagues, will be able to provide some further context to their patients about their ultra-rare disease.
However, the most important presentations of all, and most interesting and inspiring to the work of aPODD, was the voices of the children. The powerful messages they provide, simply by taking the stand and speaking their truth. Hearing their frustration with the system, how much it still lets them down, how every single facet of their lives is impacted for ever more; most importantly though, how given the appropriate support, they absolutely flourish!
Case in point: Cameron provided an exemplary account of the empowerment afforded to him by his participation, and ultimately shaping, the future of the RareRevolution Magazine, essentially a communication & awareness tool for the whole community of Rare Diseases!
By Evgenia Mengou, aPODD Trustee
The BPSU is a world leading centre for rare paediatric disease surveillance. It enables doctors and researchers to investigate how many children in the UK and Republic of Ireland are affected by particular rare diseases, conditions or treatments each year.