Our rare conditions officer hears about the latest rare developments
Thursday May 10, 2018
Our rare conditions information officer Rachel Gibson takes
part in the NIHR's (National Institute for Health Research) 'Think
Research' Rare Diseases Patient Day.
Following on from Rare Disease
Day's theme of research, the day set out to provide information
and allow learning opportunities on topics that were relevant to
rare conditions patients and their carers.
Research into rare conditions is vitally important - although
individually rare 1 in 17 people in the UK will be affected by a
rare condition and 75 per cent of rare conditions affect
children.
The day had a packed agenda with presentations, training
sessions, panel discussions and networking opportunities. Attended
by support groups, parents, patients and medical professionals, the
event yet again highlighted how much can be learned by sharing
experiences and by working together.
Highlights from the presentations included Professor Alan
Colver, Emeritus Professor of Community Child Health at Newcastle
University, talking about a five-year research programme on
transition. This involved a young person's advisory group, and you
can read all about
the research programme.
Dr Patrick Yu-Wai-Man specialises in mitochondrial genetics and
inherited eye conditions. Many of these affect children and young
people, and he is collaborating internationally in an effort to
fast track treatments.
And again, it was exciting to hear about the first children's
centre for rare diseases, which was co-designed with parents and
children and will be opening soon at Birmingham Children's
Hospital.
It was also another opportunity to view Same but Different's
Rare Beauty photography exhibition. These amazing photos highlight
the people and families behind rare conditions to raise awareness
of disability and are well worth repeat viewings! You can find out more and
check out the fantastic photography.
Finally it was also a great opportunity to showcase some of
Contact's rebranded and updated Parent Guides - such as
Living with a Rare Condition - and these proved to be very
popular!'
If your child has a rare condition, you can find support in our diagnosis
section or visit our online community
to talk to other parents.
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