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Beyond the Diagnosis: A specially curated exhibition of portraits for the RAREsummit21 gallery

Beyond the Diagnosis: A specially curated exhibition of portraits for the RAREsummit21 gallery

by | Jul 23, 2021 | Collaboration, Events, Front page news, Patient experience, Patient Groups, Raising awareness, Summit

Seeing Beyond the Diagnosis: a virtual exhibition that puts a face to rare diseases

When Patricia Weltin first put a call out for artists to paint portraits of children with rare diseases to share with the medical community, she had no idea how quickly the project would grow into a ground-breaking exhibition involving more than 70 artists and 135 children around the globe.

Beyond the Diagnosis first came to life five years ago when Patricia invited a handful of local artists and friends from the rare disease community in Rhode Island, USA to take part in a project that would encourage the medical community to look “beyond the diagnosis” to patients behind the disease.

Five years on, she has gathered portraits from artists and children with rare diseases living as far afield as Bali and Chile – and the artwork they have created together has touched the hearts and minds of tens of thousands of people at medical schools, hospitals, medical conferences and beyond.

Now Patricia is bringing a virtual gallery of these poignant portraits to the Cambridge Rare Disease Network’s RAREsummit21 on 7 October 2021. And it’s Patricia’s goal to make sure many thousands more people see this thought-provoking exhibition too.

Beyond the diagnosis logo for highlights page

We want to make people see our humanity, this is somebody’s child, brother, sister, grandchild, niece, nephew, friend. They’re just like other children.

Patricia Weltin

Hunter was diagnosed with Russell-Silver Syndrome, which is a growth disorder characterised by slow growth before and after birth. His portrait was painted by Rhode Island-based artist Dan Lake.

Hunter’s mother Tiffany said: “He is a happy, fearless child. He is a proud big and little brother who loves animals and has accepted that he is ‘different’ than the rest of the world and takes pride in who he is. He is full of life and is always in a good mood.”

Read more…

“People see the names of the disease and think it’s terrifying,” she adds. “They can’t engage with it, but they can engage with these kids through the artwork. We have so many artists using so many different styles and each portrait is a little gasp.”

A project from the heart to the heart

Patricia’s inspiration from Beyond the Diagnosis came from her own experience as the parent of two daughters who have a rare disease called Ehlers-Danlos Syndrome. It took 18 years for her eldest daughter, now 25, to receive a diagnosis and to receive the treatment she needed, including brain surgery.

Hunter portrait Beyond the Diagnosis

“I was interested in my connection to the doctors and how we could have them see us instead of seeing a complicated disease,” explains Patricia. “They needed to see that we were people and I think that is lost in medical school.”

“You can’t teach 7,000 rare diseases, so you have to be innovative and think about ways to engage medical students before they become doctors with the reality of what’s out there” she adds.

Medical students are often taught that, when they hear hoofbeats, they should think about horses, not zebras, explains Patricia – in other words, they should think about common diseases in the first instance.

Amber Beyond the Diagnosis Blog

Amber was diagnosed with Giant Axonal Neuropathy at the age of 5 when she started to have problems walking. Her portrait was painted by Venezuelan artist, Jota Leal.

Amber’s dad Miguel said: “Amber is the strongest girl I know. We call her Super Girl!”

​Read more…

“We want them to consider it might be a rare disease,” she says “We want them to think the hoof beats might be zebras!”

It was when Beyond the Diagnosis exhibited 35 portraits at Harvard Medical School that people started to take notice of the project. There was national and online media coverage. And when a producer called from the TV network CBS one Sunday morning, Patricia was completely taken aback.

“We had 7 million people learning about rare diseases,” she says “I believe it was the first time on a major US TV network that they talked about rare diseases as a whole and our unmet needs. The whole rare disease community was so excited and that just opened the floodgates. We had people contacting us from all over the world.”

Within a few years, Beyond the Diagnosis had 130 portraits representing different rare diseases touring each year to prestigious venues like the Food and Drink Administration (FDA) and the National Institutes of Health (NIH).

All of the artists give their time freely and many of them become very close to the families of the children they are painting – and go on to paint portraits for other families and children too.

“I always say it’s a project from the heart for the heart,” says Patricia. “I think that the connection and gift that the artists are giving is apparent in all of the work that you see.”

“This is someone doing their absolute best to capture these children – all of the work except one is done from photos. We give the artists all the information we can – we ask the parent to write about the child. So the artists are not just looking at a picture – they’re getting to know each child.”

The project was about to go global when the pandemic hit. So Patricia decided to take Beyond the Diagnosis online. The first virtual tour was seen by thousands of people in 23 different countries.

“I hate everything about Covid, but one of the bright spots is that we’ve found a way to reach people who wouldn’t have had the chance to see a live exhibit in a way that’s very calming and beautiful,” says Patricia. “It’s so beautifully done. You’ll see the portrait and you can click on a picture and it tells you about the disease, the child and the artist. You can sit and take your time and do it at your own pace.”

You will have a chance to see a specially tailored exhibition at the Cambridge Rare Disease Network’s RAREsummit21 on 7 October 2021. Sign up for your Vibrant Vital Virtual RAREsummit21 tickets for a chance to see the latest Beyond the Diagnosis Virtual Tour here…

For us, every day is Rare Disease Day. It’s the most difficult life imaginable. It doesn’t end for us. But we really want to share these beautiful kids from all over the world with the people who need to see them – it’s just so humbling. It refocuses your purposes on what’s important in life.

Patricia Weltin

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UK Government Launches Rare Diseases Framework 2020

UK Government Launches Rare Diseases Framework 2020

by | Jan 20, 2021 | Collaboration, Events, Front page news, Genomics, Policy, Publication

The UK Government launches the Rare Diseases Framework 2020

On the 9th Jan 2021, the Department of Health and Social Care published the UK Rare Diseases Framework, which replaces the previous UK Strategy for Rare Diseases published in 2013.

You may recall that back in Sept 2019, we held our RAREsummit event at the Wellcome Genome Campus in Cambridge.  At this event Baroness Nicola Blackwood, then government minister overseeing the new framework development, delivered a talk and called for the rare disease community to take part in the ‘National Conversation’ a survey ensuring patient and advocates were not only at the centre of designing the UK Rare Disease Framework, but also in shaping the direction for rare disease policy more broadly in the UK moving forward. You can watch her presentation here.

The survey aimed to identify the major challenges faced by those living and working with rare diseases, and received an amazing 6,293 responses, including from over 5,000 patients, families and patient organisations. This impressive response rate has enabled the UK government and the devolved administrations of Scotland, Wales and Northern Ireland to better understand what challenges were faced consistently across the community, and where differences lay between respondent groups. This information has guided the design of the Rare Diseases Framework around four key priorities:

1

Helping patients get a final diagnosis faster

and for research into previously unrecognised conditions to help identify and diagnose new rare diseases.

2

Increasing awareness of rare diseases among healthcare professionals

and increase the use of genomic testing and the array of digital tools available to support quicker diagnosis and better patient care.

3

Improving coordination of care 

Living with a rare disease often means having to face appointments with multiple different specialists across different hospitals, all in addition to accessing services such as GPs and social care. All rare disease patients should experience better coordination of care throughout their patient journey.

4

Improving access to specialist care, treatments and drugs

Very few rare diseases have established treatments, but where they do exist, access to these often-innovative therapies can prove difficult. The framework hopes to improve access to specialist care, treatments and drugs for rare disease patients across the UK.


The survey also identified several cross-cutting issues, which have also been included in the Framework as underlying themes. These are:

Continuing to champion the patient voice;

Pioneering research, so that we can harness the potential of cutting-edge science and translate outcomes into frontline clinical care.

Using digital tools, data and technology to improve efficiency, patient experience and research.

Maximising collaboration with the rare disease community in the UK and across the world to drive better outcomes for patients.

Ensuring alignment with wider policy so that rare disease issues are recognised across government.

Now that the framework is published, the focus will turn to develop the action plans to address these priorities, so we can drive real change for rare disease patients and their families. Action plans will be drawn up from each of the four UK nations, which will outline how each nation will deliver against the priorities and underlying themes in their respective health systems. It will be vital that the rare disease community is consulted, involved and listened to throughout development of these plans.

During the cross-sector hackathon as part of our RAREsummit19, teams thrashed out ideas for how they felt we might deliver on the priority themes in the Framework. We created a report to showcase some of these innovative solutions which can be viewed here. We’ll be sharing these ideas with the Dept for Health and Social Care and the teams involved in the action plan development.

Lord Bethell of Romford, Parliamentary Under Secretary of State for the Department of Health and Social Care, now leads on the Rare Disease Framework as the successor to Nicola Blackwood.

UK Rare Diseases Framework 2020
DIGITAL - CamRARE Hackathon Report_6 December 2019 resize

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Cancelled! Postponed! How do we roar for rare in the midst of a crisis?

Cancelled! Postponed! How do we roar for rare in the midst of a crisis?

by | Apr 3, 2020 | Activities, Collaboration, Events, Front page news, Raising awareness

Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 1

At CamRARE our focus is on raising awareness and building networks to address the unmet needs of those affected by rare disease and the professionals that work with them.  So how do organisations like ours maintain momentum during this extended period of lockdown?  

We create original and inspiring events, we collaborate with other engagement teams to drive rare disease onto mainstream  agendas to reach wider audiences, we attend and exhibit at others’ events and help promote these. The world of rare is used to operating in challenging circumstances but none more so than right now.

In recent days we have all found ourselves in the midst of a global pandemic with COVID-19,  a virus to which we have no immunity, having an unprecedented impact on health systems, businesses and on the way we live our lives, both locally and on a  global scale.

In order to slow the infection transmission rate and avoid overwhelming our health services, we are experiencing a seismic shift in our ability to travel freely with many parts of the world  imposing restrictions and bans.  As a direct result we are seeing large numbers of events being postponed and cancelled.  The impact on the rare disease community’s opportunities for sharing research and breakthroughs in drug development, for patients and their advocates to have a voice and for networking and collaborations to be made, cannot be underestimated.

 

vent ORGANISERS FEELING THE PINCH

In addition to the lost opportunities for sharing and networking, charities and organisations like ours, for whom events are their bread and butter, are just some of the many being hit hard by the huge financial burden of mass cancellations. Very few event organisers will have had insurance for communicable diseases and will be left to foot the bill for lost deposits and reimbursing speaker’s and attendee’s travel and accommodation costs. Of course the impact stretches way beyond the organisers with local communities also losing out to loss of footfall and many small businesses, from printers, designers, catering and AV hire to security firms, feeling the pinch.

At CamRARE we have recently had the cancellation of the RCPCH Conference and exhibition 2020 where we were excited to be hosting a half-day symposium with fellow rare disease champions BPSU, Medics 4 Rare Diseases, Findacure and Rare Revolution Magazine. Dr Richard Lynn from the BPSU is disappointed but remains optimistic:

It is with great sadness that the first official collaborative event between our five organisations has been cancelled due to the COVID-19 pandemic. It is clear from the interest the event was generating along with the speed and willingness of speakers to sign up, that there is an appetite for such events aimed at paediatric trainees. Watch this space – the collaboration goes on.

Dr Richard Lynn, BPSU (British Paediatric Survelliance Unit)

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Day-by-day we are being given new directives by the UK government, bracing ourselves for the next set of restrictions, trying to pre-empt and plan to best protect our delegates, employees and society as a whole. Factor in that we work within the rare disease community, a group that is classed as a high-risk and particularly vulnerable to the coronavirus, this is a hugely important time for us to review how we can continue to raise awareness and build networks whilst social distancing and self-isolation is being advocated and implemented to protect us.

IS THIS CRISIS THE CATALYST WE NEED TO DELIVER TRULY ACCESSIBLE EVENTS?

The rare disease community can find travel problematic at the best of times:  the expense incurred; the time it takes up;  difficulties with managing a condition and medication when travelling; issues with mobility and accessibility.  In a fair and accessible world we would be offering everyone an equally do-able pathway to take part in our event, whether in person on virtually.

Could this current crisis be the catalyst we needed to make events better for all and to reach a far wider audience than is physically able to attend?  Rather than traditional face-to-face conferences and classrooms for learning, will we hold more events via social media channels, live stream conferences and give those attending from home or work the technology to engage meaningfully?  Will MOOCs (Massive Open Online Courses) become even more popular  and online learning platforms replace the classroom?

At our last two summits we have made some inroads into engaging an audience outside of the lecture theatre by allowing people to attend via Glisser technology and take part in the Q+A. We even tried out No Isolation’s AV1 avatar allowing a parent advocate to attend from Scotland through a robot perched on stage. It all went swimmingly well until the robot began to heckle the speaker! There is certian appetite for change and this feels to us like an opportunity to do better for our patients and to be more flexible in our offerings.

THe Meaning of “grasp the nettle” in English

is to force yourself to be brave and do something that is difficult or unpleasant.

In most organisations and charities there is never enough time or resources to do everything we know we should do, so we prioritise.  Perhaps the current lockdown will provide some breathing space to refocus some of our awareness raising efforts and invest in those aspects of our work which we’ve been putting off?

Social distancing means people are spending more time in their homes with many feeling isolated and turning to digital platforms to keep in touch and stay informed. This could be a great time to invest in your digital marketing campaigns and raise awareness through these channels.

Online learning platforms

Findacure, a Cambridge-based rare disease charity,  are leading the way with their e-learning portal, a central hub of information and training for rare disease advocates and patient groups. Here they host educational materials including animated videos, webinars and written guides. Perhaps there is more we could all be doing to provide high quality educational experiences on online platforms?

 

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Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 4

virtual conferences the future?

In recent years there has been an increasing presence of virtual events and the COVID-19 health crisis has spurred a number of organisations to adapt and move their conference online rather than cancel.  Two brilliant examples are the EyeforPharma 3 day event which was due to take place in Barcelona last week and Eurordis’s ECRD event taking place mid May (check out our events calendar for registration details).  As rare disease teams are contemplating next steps, will they grasp this opportunity to look to the future and decide to move more events online to improve accessibility and reduce their financial risk?

 

In May, CamRARE was due to run rare disease expert talks as part of the international  Pint of Science festival. This has been rearranged for early September, but if this proves impossible, perhaps we could move to Glisser Live,  an enterprise software service solution engaging with audiences, gathering data from live and virtual events and pushing out events live to mobile devices?

Other such as Eden Lord, Founder of My City Med and parent of a child with a rare condition, is already ahead of the crowd.  My City Med is an online health and medical site but they also run a growing and successful online event, Rare Fair, a truly inclusive event for the rare disease community which is entirely virtual and draws in rare patients, caregivers, advocates, non-profits, healthcare professionals, researchers and other stakeholders from around th world.  Eden also facilitates other non-profits to host their own virtual conferences through My City Med Events and we’ll be taking  a demo of the platform so as to be as prepared to take our own flagship event, RAREfest20, online on Nov 27 and 28th if needed. 

 

FUNDRAISING ONLINE

As well as cancelled events, charities are also feeling the pressure of missed opportunities to fundraise with events like the London Marathon cancelled. Virtual fundraising events such as online quizzes are gaining popularity with companies enabling charities and supporters to schedule fully hosted online events which can be played virtually from the comfort of peoples’ homes.

In these incredibly challenging times, it is important that we adapt to the changing environment protecting and looking after our rare community and that we continue to raise awareness and create stimulating  ways to stay connected, now more than ever.

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Pharma Market Europe Award Winners for RAREfest18!

Pharma Market Europe Award Winners for RAREfest18!

by | Nov 29, 2019 | Drugs and pharmaceuticals, Front page news, Raising awareness, RAREfest

We are feeling very humbled and proud to have learnt today that Cambridge Rare Disease Network (CamRARE), with the support of med comms company Havas Life Medicom, were awarded winners of a ‘Judges Special Recognition Award’ at the Pharma Market Europe Awards #PMEA2019 last night.

The impressive achievements in pharmaceutical marketing excellence were recognised at the annual PMEAs at the Royal Lancaster London Hotel, with the exciting introduction of a new award for 2019. 

The annual PMEAs, now in its 19th year, had its highest number of entries yet, with the largest range of companies entering the competition in almost two decades. This was reflected in the number of attendees at the event, with an impressive 430+ industry professionals present on the night.

Keynote Speaker Mark Ormrod, an ex-Royal Marine, Invictus Games competitor and author, kicked off the night with a moving and inspiring view of his life since being injured. The main awards ceremony was hosted by broadcaster and presenter Fergus Walsh, who caught everyone’s attention with images of his brain scans!

There were a total of 15 categories this year – the entry criteria and categories are reviewed each year to reflect the ongoing changes in the dynamic healthcare landscape. In addition to the main categories, there was also a surprise award this year, The Judges’ Special Recognition Award, which reflected the impressively high standards of the entries received. 

It is wonderful to see a small charity such as ours being recognised with a Judges Special Recognition Award for our RAREfest18 arre disease inspired festival at such a prestigious event.

This year, the judges decided that they wanted to recognise two particular entries that stood out as interesting, fresh and different. Both these entries had great merit beyond the criteria for the categories in which they were entered. They both demonstrated breakthrough thinking and facilitate hope for future care. The two winners of this impressive award were Cambridge Rare Disease Network and Havas Life Medicom for their entry RAREfest, and King’s College London and Four Health for the GLAD I Took Part campaign.”

Dr Paul Stuart-Kregor, PMEA chair of judges 

We hope this inspires others to see that with creativity, self-belief, passion, probono support and sponsorship from companies, and a huge team effort, we can all achieve great things for those affected by hashtag#RareDisease This award is for all of those who took part – the Cambridge Rare Disease Network (CamRARE) and Havas Life Medicom teams, Suzanne Morris, Lindsey Brown, Kay Parkinson, Natalie Electra Karaminas, our Unique Feet children’s group and their families, our speakers, exhibitors, volunteers, film-makers, schools poster competition entrants and artists.

#teamwork #partnership

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Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18

Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18

by | Nov 9, 2018 | Events, Front page news, Raising awareness, RAREfest

Breaking news!! RAREfest18, which already had an amazing line-up, just got even better…

Adam Pearson and Dagmar Bennett in conversation will talk us through their collaboration to create this wonderful sculpture of Adam. Their talk will be part of the #RAREfest18 launch evening alongside other rare speakers, musicians and dancers. 

Adam Pearson is an Actor (most recently ‘Under the Skin’*), TV producer, Grierson Presenter of the Year Nominee 2016 and winner 2017, public speaker and campaigner against stigma towards people with a visible facial difference.

Adam has Neurofibromatosis Type 1, a rare genetic condition that causes excess body tissue to grow predominantly on his face.

The artist Dagmar Bennett created a hyper realistic sculpture of Adam, and through the tactile processes of this sculpture has allowed people to explore Adam’s personality and outlook on life.

Cambridge Rare Disease Network - Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18 7

 

 

Cambridge Rare Disease Network - Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18 8

Dagmar will be exhibiting her sculpture of Adam and discussing the process, purpose and impact of this work. She thrives on celebrating differences between people, making art to stimulate thought on the social norms presented to us every day. Her sculpture of Adam Pearson was created to help promote people with a disfigurement or disability being valued as equal. Her traditional sculpting methods in clay are entwined in a strong belief that skill and technique are especially important to an artist being able to portray ideas and concepts fully. Dagmar also believes that art can be a powerful tool to change perceptions; as Gunther von Hagens said – “The breaking of taboos sometimes is the price demanded by creativity.”

Meet Adam and Dagmar on Saturday 1 Dec at the RAREfest exhibition at the Guildhall 11am – 4pm. Tickets can be booked via this link: https://rarefest1dec2018.eventbrite.co.uk

After hearing his story, and developing a friendship with Adam I felt inspired by his positive attitude, bravery and determination to break down barriers regarding how people with a disfigurement are viewed and treated. In my portrait, I was determined to capture these qualities and show him as an individual.

Dagmar Bennett

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Healx raise funding to repurpose drugs for rare diseases

Healx raise funding to repurpose drugs for rare diseases

by | Jul 26, 2018 | Artificial Intelligence, Community, Drugs and pharmaceuticals, Front page news, Fundraising

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Congratulations to Cambridge start-up, Healx, co-founded by founder and trustee of CamRARE, as it raises $10m to help repurpose drugs for rare diseases.

Forbes and the Telegraph today report that the co-founders of Healx, Tim Guilliams – founder and trustee of CamRARE, and British inventor of Viagra – Dr David Brown, have raised funding of $10m for their Cambridge start-up that uses artificial intelligence (AI) technology to find medicines to treat some of the world’s rarest diseases.

The Telegraph states “Dr David Brown, the scientist who developed the blockbuster treatment for erectile dysfunction for Pfizer, is the co-founder of Healx, a UK medical tech startup that uses machine learning to find treatments for 7,000 rare conditions that do not currently have an approved method of treatment”.

 

It goes on to explain why Healx believe that the lengthy traditional drug discovery process isn’t economic for rare diseases and how they hope to accelerate the time to drug discovery and reduce costs through their AI technology driven systems which search for drugs that can be repurposed. 

Dr Brown’s work with Viagra, which was developed originally to treat heart patients, proved that drugs intended to help one condition can sometimes be adapted to treat others. To read the full article click here.

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CamRARE Summit 2017 – The Film

CamRARE Summit 2017 – The Film

by | Feb 4, 2018 | Events, Front page news, Summit

We collaborated with Lucia Tambini,  film maker producing films for charities including Oxfam, Tourettes Action, SeeAbility and Walk the Walk, to capture the essence of our annual summit in 2017 and what it is about our city of Cambridge which offers great opportunities to drive change in rare diseases.

The theme of CamRARE2017 was ‘Re-imagining the Patient Journey’ and we worked hard to give patients and patient groups a platform and voice at the event through the Patient Journey Poster Exhibition and the Lightning Pitches element of the day.

For those who attended, take a look to see if you made it on film! For those who were unable to attend but are curious, watch the film and be inspired to attend this year’s RAREfest event – a weekend of celebration of everything rare on 30 Nov and 1 Dec 2018.

 

Watch the CamRARE Summit Film 2017…

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Findacure reflections on CamRARE2017 summit. Re-imagining the Patient Journey.

Findacure reflections on CamRARE2017 summit. Re-imagining the Patient Journey.

by | Nov 12, 2017 | Events, Front page news, Guest posts, Summit

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 doorstep, 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 CamRARE summit.  After a great day, I thought that I’d share my thoughts on what the CamRARE summit stands for.

 

C is for collaboration

Collaboration really was at the heart of the CamRARE 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.

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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.

Cambridge Rare Disease Network - Findacure reflections on CamRARE2017 summit. Re-imagining the Patient Journey. 13

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 CamRARE 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 CamRARE Companies Forum and patient journeys posters, really ensured that everyone had a place at the event.

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Cambridge Rare Disease Network - Findacure reflections on CamRARE2017 summit. Re-imagining the Patient Journey. 15

N is for new hope

The whole event was a great showcase for rare diseases, and we are grateful to the CamRARE 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.

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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 22 Sept 2017

by | Jul 5, 2017 | Front page news, Fundraising

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.

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 aachieve an even greater impact, GDUK are partnering with smaller genetic disorder charities like CamRARE to help them spread the word, and in return, split the proceeds.

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

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.

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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 CamRARE 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 Disease 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 CamRARE or Jeans for Genes Day, please don’t hesitate to get in touch.

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Through to the Finals!

Through to the Finals!

by | Jun 29, 2017 | Front page news, Uncategorized

Havas Life Medicom a ‘specialist led, unified communications agency delivering connected healthcare communications, informed through fresh insights, smart thinking and inspired ideas’ have been supporting CamRARE 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.

Havas Life Medicom entered CamRARE’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.

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Cambridge Rare Disease Network - Through to the Finals! 20

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Parachute Jumping for Cambridge Rare Disease Network

Parachute Jumping for Cambridge Rare Disease Network

by | Jun 20, 2017 | Community, Front page news, Fundraising, Raising awareness

Six incredible ladies, Helena Baker, Zoe Napier, Emily Mortimer, Lisa Griffin, Caroline Churn and Juliette Newton will be parachute jumping for CamRARE 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.

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So why CamRARE?

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 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 amputated 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”.

 

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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 CamRARE 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 & her team!

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Running the 100 mile North Downs Way for CamRARE

Running the 100 mile North Downs Way for CamRARE

by | Jun 20, 2017 | Front page news

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!

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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.
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!”

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