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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