When it comes to rare, collaboration is key

Last week we celebrated the 11th annual Rare Disease Day, which took place with events held around the country to promote awareness of rare conditions.

This year's theme was research - and with 7,000 known rare conditions and only 400 with licenced treatments, research is vital. Our Rare Conditions Information Officer, Rachel Gibson, blogs about her experience of the day and gives a fascinating insight into rare developments.

On Rare Disease Day 2018, I attended charity Findacure's conference on drug repurposing for rare diseases.

Drug repurposing is about looking at safe drugs already on the market and using them to treat different conditions. With few drugs available to treat rare conditions and the length of time it can take to get new drugs to trial stage, finding ways of speeding up this process is essential.

We heard from inspiring parents who have established support groups that are now at the forefront of research into their children's conditions. The key message of the day was the importance of collaboration - between support groups, clinicians, scientists and pharmaceutical companies. Only by working together can positive outcomes be achieved.

A new report, Understanding Children and Young People's Experiences, was also published by Rare Disease UK, and looks at children's experiences of rare conditions and the impact on their families. The report emphasises the importance of care co-ordination for this group of patients, particularly as they transition from children's to adult services.

With 75 per cent of rare conditions affecting children, it is so important that their voices are heard.

Our rare condition resources

Our online A-Z of medical conditions has over 400 conditions and syndromes, each with information about symptoms, treatments and support groups where available. If you can't find a condition online, contact our freephone helplineas we have many more records offline.

You can also read all about diagnosis, on our website, including the support available for children who don't have a diagnosis. And for further information on rare conditions, order a copy of our newly updated guide for parents of children with rare conditions: Living with a rare condition [PDF]. It's available free from our helpline, 0808 808 3555, or to download.

Written by Contact at 14:05

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