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.