Findacure reflections on CRDN2017 summit – Re-imagining the Patient Journey

On 23rd October the rare disease community gathered in Cambridge for the Cambridge Rare Disease Network’s third annual summit. This day long conference is always a great opportunity for Findacure to meet up with the rare disease community on our own door step, and we were thrilled to be invited to speak on the day. Rather than give a blow by blow account of the day, Findacure’s CEO Rick decided that his blog for the week would highlight some of its major themes.

All conferences are different. They have a different focus, target a different audience, and deliver a very different atmosphere. In a month filled with conferences, including Rick speaking at Bio2Business, an orphan drugs and rare diseases conference in London, and Katie attending EyeforPharma, it is the conferences focusing on rare diseases that have been particularly special. In addition to our own Newcastle Rare Disease Showcase event (more about that soon), the Findacure team had the pleasure of attending the CRDN summit.  After a great day, I thought that I’d share my thoughts on what the CRDN summit stands for.

C is for collaboration

Collaboration really was at the heart of the CRDN summit. The team had worked hard to select a programme of talks that showcased projects in the rare diseases that involved many different disciplines. The specialist orphan drug pharmaceutical company Sobi spoke about their work with patient groups, both to help develop new treatments, and to improve the way that drugs are delivered to ease their day-to-day lives. The Mendelian team highlighted the work there online platform is doing to provide an effective digital diagnostic tool which is accessible and helpful to primary care professionals. Importantly this tool is responsive and relies on the input of clinicians around the world to improve its results. Finally Kay Parkinson, CEO of Cambridge Rare Disease Network, gave an excellent talk about her personal experience as a mother of two children with Alström syndrome. When exhibiting a poster about the condition at an international conference, she made contact with a pharmaceutical company who had a product that had the potential to act as a treatment for this condition. From this serendipitous meeting, a research project and clinical trial for this ultra-rare condition has snowballed.

R is for “Read all about it”

A great innovation of the conference, and real highlight for me, was the patient journey poster competition (a project born from Kay’s own poster experience). Prior to the conference 33 different patient groups took the time to produce posters to summarise their rare condition and their own patient journey. These 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.

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. The CRDN team asked Findacure to chair this session, and Mary Rose and I brought our dreaded bell along to help ensure that all of the speakers kept to time. It was a real pleasure to be involved in this session, and the talks were of an exceptional quality.

D is for diversity

The whole day was hugely diverse, with a number of different sessions helping to bring different interest groups into the rare disease fold. The team from Students4RareDiseases were involved in a session with medics, students, and genetic counsellors focussing on the role early career healthcare professionals can play in rare diseases. There was also a session focussing on the role of technology in rare diseases, with the team from No Isolation showcasing a robot avatar, which is designed to help children who are unable to attend their school due to ill health remain engaged in the classroom. These two breakout sessions combined with the CRDN Companies Forum and patient journeys posters, really ensured that everyone had a place at the event.

N is for new hope

The whole event was a great showcase for rare diseases, and we are grateful to the CRDN team for giving Findacure such an exciting role in the day. Between the talks on drug repurposing, gene editing, and the impatient patient revolution, I left the day with the sense that there is lots to look forward to for rare disease patients in the near future.


Join the Cambridge Rare Disease Network on Jeans for Genes Day 22 Sept 2017

Join the Cambridge Rare Disease Network on Jeans for Genes Day

Apply for your free fundraising pack to support Cambridge Rare Disease Network and Genetic Disorders UK here

Did you know that half a million children in the UK are affected by a life-altering genetic disorder? Jeans for Genes Day is an annual fundraising campaign, organised by Genetic Disorders UK (GDUK), to raise awareness and money to transform their lives. This year’s event will take place on Friday 22nd September, and to a500,000 childrenachieve an even greater impact, GDUK are partnering with smaller genetic disorder charities like CRDN to help them spread the word, and in return, split the proceeds.

Would you or your school or workplace like to take part in this year’s Jeans for Genes Day for CRDN?

All you have to do is sign up on the official GDUK page, choosing Cambridge Rare Disease Network as your partner from the drop-down list, and encourage your pupils or colleagues to wear jeans on the day in exchange for a small personal donation. Extra fundraising iideas, such as cake sales or quizzes, are most welcome too!

Once you transfer the proceeds to GDUK, they will then transfer half to us for everyone we help to sign up. One exception – if you’ve taken part in Jeans for Genes Day in the last three years please DO  take part, but all of the money raised will go to GDUK.

As hundreds of schools and workplaces take part each year, this is a great way for your pupils and colleagues to feel like an important part of the wider movement to end genetic disorders. For schools, it is also an opportunity for you to educate your students about the science of genetics, to promote equality of people affected by rare conditions, and to highlight the importance of charity and social responsibility.

 Need some help? The Jeans for Genes website is packed full of helpful resources like posters, sponsorship forms, educational leaflets, assembly ideas etc for schools, nurseries  and workplaces  a social media pack and arts and crafts ideas.
The of the money donated to us on Jeans for Genes Day will be used to help CRDN develop a regional network and forum of Rare Disease patients and their advocates and families, to support our Unique Feet children and young people’s social group and to run exceptional Rare Disease educational and networking events. Raising the profile of Rare conditions and valuing, celebrating and supporting those living with Rare Disea
se through life’s journey could be something you and your team or school could help us make this happen. If you have any questions about CRDN or Jeans for Genes Day, please don’t hesitate to get in touch  on info@camraredisease.org

Through to the Finals!

HLMHavas Life Medicom a ‘specialist led, unified communications agency delivering connected healthcare communications, informed through fresh insights, smart thinking and inspired ideas’ have been supporting CRDN pro-bono over the last year in creating communications materials for our annual summit. They have done a superb job of listening to our needs, working with our small team and the odd hours they keep due to other work commitments, and in designing high quality promotional and delegate materials.

award-logo-communique (1)Havas Life Medicom entered CRDN’s Summit 2016 into the Communiqué Award’s 2017 and we’ve had the exciting news that it has been nominated as a finalist! This is a great privilege as these awards, and in particular the ‘Excellence in Communications via a Live Event or Stand-Alone Activity’ category which the 2016 Summit was entered in, are always extremely competitive, so we will be up against some tough competition. Being shortlisted is a real achievement and we are all be very proud. The awards ceremony in on 6th July 2017, so we will keep you posted through social media.


Parachute Jumping for CRDN

parachuteSix incredible ladies, Helena Baker, Zoe Napier, Emily Mortimer, Lisa Griffin, Caroline Churn and Juliette Newton will be parachute jumping for CRDN on the 4th June!! We’ll be there to cheer them on and watch them fly at Beccles Airfield, Norfolk. Please help our courageous ladies achieve their £1,800 fundraising target by donating through Helena’s Just Giving page, Emily’s Just Giving Page and Zoe’s Just Just Giving Page

So why CRDN?   Helena Baker is Vice President of the Nursing Medical Research Network and was one of the key speakers at our event in March 2016, where we discussed the potential need for a rare disease nursing service.

Helena BakerHelena was born with Fibular Hemimelia, a rare congenital disorder that left her, in her own words, with one leg shorter than the other– a tiny club foot, lots of missing ligaments in her leg and body, and a fierce determination not to let any of these problems stop her from doing what she wanted in life, except perhaps play hockey. Helena recalls growing up having more operations than hot dinners, but never received a diagnosis.

Eventually, just before she turned 50, she was told of her diagnosis. Doctors were clear there was nothing her mother could have done during pregnancy that would have changed the outcome. She is sure that having had a diagnosis earlier would have made a world of difference to her parents.

Helena has been recovering from more surgery having had her right leg amputatedHelena BakePNG below the knee last September and is currently learning to walk again. She is continuing to make a great recovery as she’s getting to grips with her new prosthetic leg.  Unfortunately there’s been a slight set back with Helena breaking her remaining ankle. Helena says “On the day, I’m not allowed to jump wearing my prosthetic leg and I’m also not allowed to land on my recently broken one remaining ankle.  So I’m going to land on my instructor who will be delighted.  I’m planning on testing them out beforehand for looks and comfort. “ Helena’s grit and good humour never cease to astound us. She reassured us  “we are approaching our impending doom in the spirit of total denial, all desperately trying to pretend that it’s not happening”.  That’s the spirit Helena!!

Because of her strong belief that having access to a rare disease nursing service would have been a huge support to her and her family, she has decided to take on a parachute jump on Sunday 4th June 2017 at Beccles Airfield alongside Zoe Napier, Emily Mortimer, Lisa Griffin, Caroline Churn and Juliette Newton, to help raise funds for CRDN towards their goal of establishing such a nursing service for those with rare diseases.

Thank you for your support and good luck and a huge thank you to Helena and her team!!


Running the 100 mile North Downs Way for CRDN

Chris Cawthorn from Trailfinders in Cambridge is running an incredible 100 miles along the North Downs Way in August to raise money to enable us to offer more activities to our Unique Feet rare disease community group. This is an incredible feat and we are truly humbled by his efforts and generosity.

Chris tells his incredible running story  “ I never really intended to run this far (does anyone?) but after doing my first marathon in Hong Kong back in 2013 I realised that I wasn’t particularly fast, but fairly good at going slowly for a long time! Since then, I’ve completed 2 road marathons, with a third coming up in the Edinburgh Marathon on 29th May, and five ‘ultra-marathons’, which is anything over a marathon, including two 30 mile, a 40 and two 50 mile races. These photos of me are at the start and end of the South Downs Way 50 mile race, Easter 2016, which took 9 hours and 17 minutes. I also did 50 miles across the Lakes last summer – that one took 11 hours and 52 mins!

Chris C runner

Chris Cawthorn 100 mile run I usually run 4-5 days a week at the moment, totalling around 35-40 miles. The legs do a lot of complaining but I’ll soon have about 10 days rest before the Edinburgh Marathon. After I’ve recovered from that it’ll be full steam ahead with training for the 100 miles, building up from 50 miles to 80 or 90 week in peak training, including running home to Ely from Cambridge after work some nights to fit it all in. That’s very scenic 18 mile commute.

The race itself traverses the North Downs through Surrey and Kent and while not mountainous, is continuously hilly and 90% off road. We’ll start at 6am Saturday morning and while the cut-off is not until Sunday at midday, I’m aiming to finish in under 24 hours at 6am Sunday. The night time section, when you’re already 75 miles in, is supposed to be particularly tough…..gulp. All the hills added together total around 10 000 feet of elevation gain – that’s around two-thirds of Mont Blanc!”

We will be following Chris’s progress through his training and wish him all the best for his Edinburgh Marathon. So sponsor Chris and support our Unique Feet children to do some summer activities go to Chris’s Just Giving page.


Cambridge Rare Disease Annual Summit – Oct 23 2017

Following the success of our 2 previous summits the Cambridge Rare Disease Network is pleased to announce our 3rd annual International Rare Disease Summit.

Venue: Robinson College, Cambridge will be hosting our event on 23rd October 2017

Costing: tiered pricing with early bird tickets and discount tickets for patients and patient groups, students and start-ups.


This day long event seeks to create a forum that brings together patient groups, healthcare, academics, researchers, biotech companies, and the pharmaceutical industry in a spirit of collaboration, innovation and passion to re-imagine and re-invent the Rare Disease patient journey.

Theme: “Re-imagining the Patient Journey”

We will provide a morning of exploration of inspirational Rare Disease patient journeys where patients and patient carers have been partners in healthcare and treatment development. Take a walk with us through case-studies from early symptoms, dead-ends and steps forward to diagnosis, patient group formation, campaigning and research to pharma collaboration and drug development.

The afternoon will showcase pioneering work being undertaken in Cambridge and around the world to re-imagine and re-write the endings of Rare Disease Patient journeys from drug re -purposing and pharma ‘adoption’ of rare diseases to empowering patient revolution.


Patient groups a chance to showcase posters in a Patient Journey gallery and all delegates will enjoy wide networking opportunities with exhibition stand holders from industry and patient organisations.

Followed by a drinks and canape reception in the pleasant surroundings of the Crausaz Wordsworth building on site.


Confirmed Speakers with more pending:

  • Dr Ségolène Aymé -Founder of Orphanet
  • Dr Kate Bushby – Professor of Neuromuscular Genetics, Newcastle University John Walton Centre for Muscular Dystrophy Research
  • Dr Ana Mingorance – Dracaena Consulting, Chasing cures for neurological and rare diseases
  • Dr Rick Thompson – Head of Research, Finadacure
  • Neil Dugdale – General Manager, UK and RoI, Sobi
  • Kay Parkinson – CEO, CRDN and Alstrom Europe
  • Dr Owen Vaughan – Senior Director, Regulatory Affairs, ProMetic Pharma SMT Ltd
  • Dr Sanjay Patel – Senior Director, ProMetic Pharma SMT Ltd
  • Daniel Lewi – CEO, Cure and Action for Tay-Sachs Foundation

Rare disease nursing in Cambridge: a debate

With 1 in 17 Britons born with or developing a rare disease, and with medical advances offering exciting new treatments to extend the lives of rare disease patients, we need innovative new options in holistic, patient-centred healthcare – such as rare disease specialist nurses.

Current care options for rare diseases put the burden on the patient to navigate multiple specialists, cover expensive travel and potentially spend long spells in hospital. This results in missed diagnoses, missed opportunities for treatment and leads to higher healthcare costs for patients and healthcare networks.

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