On 23rd Oct, Dawn and Allison had the fantastic opportunity to attend the Cambridge Rare Disease Network (CRDN) Summit 2017 at Robinson College, Cambridge.

On arrival we handed over our patient journey posters (see below) and got ourselves signed in to some new tech to follow the conference on our phones/tablets, whilst in the auditorium. The new Glisser technology allowed us to follow all the speakers slides on our devices, and/or to make personal notes, to interactively ask questions during the talks (as well as see questions posted by others and ‘like’ them) and post slides with comments directly on twitter. It was pretty cool technical innovation, if not a bit hectic to keep up with everything!

The event was opened by Alistair Kent OBE, Chair of CRDN.

We enjoyed presentations from two patient support groups:

• Kay Parkinson CEO of CRDN and Alstrom Europe who inspired the patient journey poster competition, as previously a chance poster presentation by Kay had led to collaboration to develop a drug treatment for Alstrom Syndrome.
• Daniel Lewi CEO of the CATs Foundation and new research into Tay-Sachs and Sandhoff disease being undertaken at Cambridge

The patient journey poster competition

A great innovation of the conference, and real highlight for us was the patient journey poster competition. Prior to the conference we were 1 of 33 different patient groups who took the time to produce posters to summarise their rare condition and their own patient journey. I (Allison) have never produced a poster before and have no background in Graphic Design, but with some guidance from the lovely CRDN team I gave it a go, because I felt the importance was in getting the word out about r(20) syndrome, how it affects us and what we want, not the quality of my artwork!

The posters were shared with all delegates in printed form so that everyone, whether clinician, researcher, life sciences worker, or rare disease patient, could read all about the impact of a multitude of rare diseases. CRDN also have plans to continue circulating our posters at future events over the coming months, so the reach for raising awareness is huge.

You can download a copy of our poster and/or patient journey below:

•  Poster (best printed A0 size)
•  Patient journey

Even more excitingly five poster authors were selected to give a five-minute lightning talk during the conference, telling the audience a little about their condition and their three wishes for the future. Unfortunately, our poster wasn’t shortlisted as we were up against some very stiff competition, but it was great to hear their wishes, which were often pertinent to all!

The whole event was a great showcase for rare diseases, and some of the latest innovations. There were talks on:

• Developing orphan drugs (drugs for rare diseases) from Sobi a pharmaceutical company who claim to ‘listen to patient communities’
• drug repurposing; we heard from Dr Rick Thompson from Findacure who suggested that ‘The future IS drug repurposing’, given that the cost of bringing new drugs to market is ever increasing and the number of new drugs being developed in decline. Rick gave a very simple explanation of what drug repurposing is:

• gene editing that can cure some rare diseases (currently being used for specific single genes only at this stage, so not applicable for r(20) syndrome, but an amazing concept just the same!)
• the ‘impatient patient revolution’ and the power of patient support groups
• the advent of telemedicine and the need for a Rare Disease Nurse Network.
• Mendelian – a new powerful rare disease search engine for health professional

A key question was asked of the audience:

How do we get #RareDisease into the mainstream?

TV campaign, changing the language of disease,

#education choosing right media GP training…

Did you know that Rare Disease is more common than cancer and AIDS combined?

At the end of the day there was time for a well-deserved glass of wine to reflect on the day with all attendees and a chance to meet up with a great bunch of like-minded people – representatives from other patient support groups; we call ourselves the ‘Rare Revolutionaries’ as we all subscribe to Rare Revolution magazine and are advocates for change in our own Rare Diseases! We look forward to meeting up again at future events and keeping in touch on social media. These guys teach us so much and the power of information sharing and networking is invaluable.

Roll on the Rare Revolution!