People make a splash for research on Rare Disease Day!
We need research! That was the theme for this year’s Rare Disease Day, and to mark the occasion research staff at Cambridge University Hospitals held a morning of activities and information-sharing in the busy public concourse.
Centre of attention was the giant canvas where passers-by were asked to dip their hands in paint and make hand-prints to show their support for rare disease research. The activities drew members of the public – and the Trust’s Chief Executive Roland Sinker (pictured, right) – who visited the stands wanting to find out more about rare diseases.
Event organiser Georgina Norris said: “This was a great opportunity to show other staff and patients the huge range of research taking place on site – including rare disease research.”
Importance of rare disease research – a patient’s point of view
Jessica Cook and Paul Scales are two rare disease patients at Addenbrooke’s who have both been actively involved in clinical research at the Trust. They both have a rare type of neurofibromatosis called NF2, where tumours grow along the nerves responsible for hearing and balance, leading to gradual hearing loss and mobility impairment.
Jessica said: “I was just 8 when I was diagnosed with NF2, Paul was 15.
“Since our teens we’ve had multiple brain and spinal surgeries to help manage disease progression, but there is no cure so we will need more surgery.
“That’s why research is so important and Paul and I have been involved in drug trials (for Avastin) and quality-of-life studies here in Cambridge.
“It is such a comfort to know that research is going on that aims to improve our quality of life.”
Risk of isolation
In common with many rare diseases NF2 impacts on people’s physical, emotional and psychological health and well-being. Patients can also feel very isolated – and to help counter that Jessica began to put their stories into a book. Called NF2: Our Journeys, the book – which was published in 2013 – is a collection of 44 life stories from people with NF2 from around the world.
The feedback from the book inspired Jessica to start the charity Can You Hear Us? for the NF2 community and Paul is also involved in a lot of its projects.
Jessica said: “In July 2017 we published Living With NF2: From Us To You and both this and NF2: Our Journeys are available from our website.
“We hope that by sharing our experiences of how we’ve coped and built resilience, people with NF2 can feel less alone.”
CEO Roland Sinker said: “Today’s event helped to highlight just some of the important research we do at the Trust for the rare disease community.
“Research into conditions like NF2 and indeed other rare diseases is fundamental to Cambridge University Hospitals and its partners.
“These are complex diseases and our research could develop new understanding and treatments about rare disease and also other less-complex conditions.”
The photo shows Paul and Jessica at the book launch of Living with NF2: From Us To You.
If you would like more information about the NIHR Cambridge BRC, please contact us.