Cambridge Rare Disease Network to host ‘pioneering’ RAREsummit21
Five innovators selected to pitch their rare disease challenge solutions to RAREsummit21’s audience have been selected by judges.
Cambridge Rare Disease Network is both hugely respected and hugely popular
The Dragon’s Den-style innovation pitching is one of many components of RAREsummit, which takes place virtually tomorrow (October 7) and is hosted by Cambridge Rare Disease Network (CamRARE).
The annual event, first held in 2015, shines a bright light on life for rare disease sufferers, shares a vision of how to accelerate improved treatments and outcomes for them, and offers information about causes, diagnoses and possible patient pathways now and in future.
The need is urgent: there are more than 7,000 rare diseases globally, and around 3.5 million Britons are rare disease sufferers – yet only five per cent of rare diseases have an approved treatment.
This year, RAREsummit will be held online for the first time, making it more accessible than ever to a global audience and to patient groups, researchers, clinicians, pharma and biotech companies and policy-makers from around the world. More than 50 key opinion leaders will take part in panel discussions, fireside chats, workshops and live pitching sessions, alongside over 20 interactive exhibition stands, short films and posters in an inspirational online gallery. More than 300 people are expected to attend.
“RAREsummit is more than an event – it’s where the magic happens,” said CamRARE’s managing director Jo Balfour. “It’s a powerful movement for change that provides all the right ingredients for a better future, where productive collaborations are nurtured and flourish for real patient impact.
“Patients want to be involved and share their lived experiences to help companies, researchers and healthcare professionals find answers and solutions,” she added.
Jo Balfour, managing director of Cambridge Rare Disease Network. Picture: Keith Heppell
“RAREsummit21 will shine a spotlight on those patients, patient advocacy groups, researchers, healthcare professionals, and companies who are truly listening and leading the way in pioneering partnerships to accelerate change.”
The pitching event, created in partnership with Eastern AHSN, was judged by Louise Jopling, Charles Steward, Sean Richardson, Alastair Kent, Sophie Muir, and Gemma Chandratillake.
The audience will hear from the following five shortlisted organisations about their solutions live, with follow-up questions from CamRARE’s resident dragons.
Asclepius Digital: a paediatric rare disease diagnostic portal from Sundown Solutions
Medwise.ai: provides healthcare professionals with vetted and contextualised knowledge about the treatment and management of rare diseases
NOink by DSST Real world: data capture and information for rare disease patients and their families to improve care
Thriving.ai: tool integrates health and social care, formal and informal care around a thriver, the person being cared for, and is underpinned by machine learning and AI capabilities
Vitaly Collaborative decision making – a cutting-edge tool from Parsek Group for healthcare professionals enhancing how multidisciplinary teams exchange opinions, make decisions and manage patients remotely.
Professor Stephen Hawking shared his own personal story at the inaugural RAREsummit in 2015. Picture: Sir Cam
From the outset five years ago, CamRARE has provided a platform for an impressive collection of hard-hitting speakers from Cambridge, alongside European and US experts. The late and very great Professor Stephen Hawking – Cambridge’s best-known rare disease advocate – shared his own personal story at the inaugural RAREsummit in 2015 at Cambridge Judge Business School.
Professor Hawking was famously diagnosed with the rare motor neurone disease at 21, and was told science had no answers. He went on to live a long and productive life with the support of medical and technological advances. Cambridge Rare Disease summits continue to drill down into how to make this a reality for the 3.5 million Britons affected by rare disease – at a time when life just got even harder, thanks to Covid-19.
“Life has been turned upside down for many of us over the last year, but none more so than the rare disease community,” says Jo. “Our families have been impacted by the added isolation of having to shield their medically vulnerable children, access to routine healthcare became more challenging, diagnoses of rare conditions were delayed, and many clinical trials and research studies were put on hold temporarily. Some closed altogether.”
However, she says the response has been hugely life-affirming.
A rare disease sufferer. Picture: Jordan Mossom
“We came together, albeit virtually, as a community with greater determination than ever before. We have begun to take the positives from the last year too and work out where things can be done better in the future. Can the length of clinical trials for rare diseases be shortened through parallel working as we saw with Covid vaccines? Should telemedicine in healthcare be a permanent option for some patients who currently have to travel to see experts across the country? Could digital signatures and virtual site visits be used to allow patients to give consent to take part in trials and connect with researchers?
“It’s vital we take the learnings of the last year and get back on track for this massively underserved population.”
“Tim Ringrose at 9.40am should be interesting too – he’s a doctor and a tech expert and is using some very cool ways of helping create accessible health info about rare diseases – something that is hugely lacking!”
More about this remarkable event can be found here.
Spotlight on how we can create positive industry and patient group partnerships
On 7th October 2021, we’re holding our 5th RAREsummit – CamRARE’s flagship event – bringing together more than 300 great minds in rare diseases to make connections, exchange ideas and openly debate possibilities.
One of the key areas we’ll be exploring is how far patient group and industry relationships have come over the last five years – and why collaboration between the two is so vital when it comes to driving forward progress in rare diseases. Through a mixture of talks, panel discussions, fireside chats, workshops and Q&As, we’ll be sharing some inspirational examples of how advocacy groups and companies have been working together to achieve fantastic results.
Advocacy groups for rare diseases have become more than voices; they are an essential source of transformational therapeutic advances. Increasingly patient groups want to be involved in the drug development and tech solution process earlier and more often. From bringing their expert patient or caregiver insights to clinical trial design to ensuring acceptable protocols and helping to raise awareness of ongoing clinical trials, or mounting viral disease awareness efforts that help to condition the markets, today’s patients are increasingly empowered and savvy – and they offer a powerful voice.
With the rise of social sharing online, traditional boundaries are evaporating. Companies are now actively listening and engaging with patients from the outset – and are working out how to make sure these collaborations are as impactful and effective as they can possibly be.
Image: Alex Lloyd from Eastern AHSN
Collaborating to find innovative solutions
One of the organisations we’ve partnered with for RAREsummit21 is Eastern AHSN (Academic Health Science Network). At last year’s RAREfest, they asked people living with rare conditions what their biggest everyday challenges were. Our community spoke and we listened. The innovation community has responded with tech and digital solutions to help with care coordination, wellbeing and mental fatigue – or ensuring health information is done well. At RAREfest21, we will get the opportunity to hear five of the best solutions presented live. Innovators will but put through their paces in a dragon’s den style session by judges Lou Jopling – Commercial Director at EAHSN, rare disease policy expert Alastair Kent, Sean Richardson the General Manager of Alexion Astra Zeneca, founder of Timothy Syndrome Alliance – Sophie Muir and CamRARE’s Chair, Dr Gemma Chandratillake. It is set to be a riveting session!
Alex Lloyd, Principal Advisor and Commercial Delivery Lead for Eastern AHSN, told us:
“We work with so many incredible innovators whose great ideas have come from a variety of sources. Often an idea comes from clinicians who have spotted an unmet need, or a technical expert who understands how technology can be applied in different ways to help different patient groups. Some of the best ideas, however, come from the lived experiences of patients and their families.
The first step in alleviating a problem is understanding it, and who knows the impact of a rare disease better than somebody living with one? That’s why we’ve collaborated with the CamRARE to engage with the rare disease community to really listen and understand the issues they face daily. We found that one of the biggest challenges was access to clear, reliable health information about rare diseases, whilst many struggled with disjointed care. Another common theme was the impact a rare disease can have on an individual’s wellbeing, with many people suffering from mental fatigue.
By gathering these insights, finding common themes and developing them into challenges, we’re able to work with innovators to find solutions that have a real impact in improving the lives of people with rare diseases and their families. We hope to demonstrate the value of starting with listening to the community, empowering them to shape healthcare services to provide real benefits for people with rare diseases.
At RAREsummit21, we are giving the five most promising innovations a unique opportunity to pitch their idea in front of a live audience and gain valuable feedback whilst creating connections to help them take the next steps in their innovation journey to deliver impact.
We believe that citizens, academia, health services and industry will achieve so much more working together than they will in isolation and we’re excited and honoured to be involved in RAREsummit21.”
AMPLIFYING patients’ voices
At RAREsummit21, we’ll also be hearing inspiring examples of how patient groups are making their voices heard. We’ve been collaborating on a brilliant project with Prime Global to help patient groups develop impactful posters and pitches for the gallery on our virtual platform. The passionate Emma Sutcliffe from Medical Communications agency Prime Global will be running a session that shares the work they’ve undertaken with these groups and and why it’s essential to amplify the patient voice through these Patient Voice Publications.
Amy Sharples from Prime Global told us: “Patient Voice Publications tell the patient story – from real world experience and burden of disease to hopes for the future. They are stories told by patients for pharma, to focus on what matters. Ultimately, this leads to the triple win – better outcomes for patients, for pharma, and for society.”
At the session, you will hear how these publications are having a real-life impact for patient groups, as Jess Duggan – mum to a child with SYNGAP1-related NSID (non-syndromic intellectual disability) explains: “Taking our story to pharma via Patient Voice Publications helps us raise awareness and highlight what’s vitally needed so that we can work together to deliver better support, diagnosis, treatment, outcomes, and hope, for patients and their families.”
Image: Sophie Muir Chair of the Timothy Syndrome Alliance
Can serendipity catalyse better collaborations between patient groups and INDUSTRY?
Is serendipity is enough when it comes to developing impactful collaborations between patient advocacy groups and industry? Can systematically linking stakeholders in the right setting help to catalyse better collaborations?
To test this hypothesis, CamRARE recently ran a partnering event through their Companies Forum between rare disease patient groups and companies. Sophie Muir, Chair of Trustees from the Timothy Syndrome Alliance took part and said “There are many overlaps with rare diseases. Bringing stakeholders together to share experiences increases opportunities of contacts and knowledge for both patient groups and industry.”
At RAREsummit21 we’ll be showing a short film on demand, the story of an ultra rare epilepsy patient group, Ring20 Research and Support, and their collaboration with sequencing specialists Illumina. Ring20’s CEO Allison Watson gave a moving talkto attendees at CamRARE’s RAREsummit in 2019, a talk which challenged industry to help unravel the diagnostic odyssey for their children. This call to action led to a serendipitous meeting with a representative from Illumina over lunch, and from there the collaborativeUNRAVEL project was born. Allison said:
“We’ve started an internal scientific collaboration, which has evolved from discussions with companies following your CamRARE RAREsummit last year and also involves another company following CamRARE’s invite for me to present at your Companies Forum – so your events have a HUGE amount of value to us!”
We’re big believers in the power of our network to connect the right people and give patient groups the platforms they need to tell their stories to the right people in the right way.
Collaborating, listening and educating effectively with patient groups
Last but very much not least, we’re honoured to welcome a panel of speakers hosted by Naomi Litchfield, patient advocacy lead at Bionical EMAS, to explore Early Access Programs: collaborating, listening and educating effectively with patient groups.
Naomi will be joined by Christine McCracken of Head, Patient Strategies & Solutions, Janssen Pharmaceutical Companies of Johnson and Johnson and Alix Hall, Managing Director of the Isaac Foundation in Canada to discuss best practices for meaningful patient engagement with pharma and patient groups, drawing on the example of an Expanded Access Guide created for patients as a resource to support understanding on expanded/early access in each individual country. The guide was put together through strong collaboration between pharma and patient groups in response to patient and family requests for a resource on this topic. Naomi told us:
“Partnerships between pharma and patient groups are so vital for many reasons that I am extremely passionate about. Listening and engaging with patients in order to achieve positive, mutually beneficial relationships is a fundamental part of rare drug development. Drug development for patients must be with patients – incorporating all their unique experiences and perspectives.
RAREsummit is a wonderful platform to listen, learn and engage with the rare disease community. We can learn a lot from listening to each other’s experiences and perspectives, I am most looking forward to hearing the rare community’s stories and their thoughts on positive pharma and patients partnering.”
Do come and join us at RAREsummit21 on 7th October 2021 to hear from Alex, Amy, Sophie, Naomi and 300 of the greatest minds in rare disease. All summit content – talks, exhibits and gallery are available for 30 days following to ticket holders.
Collaborating, listening and educating effectively with patient groups
Last but very much not least, we’re honoured to welcome a panel of speakers hosted by Naomi Litchfield, patient advocacy lead at Bionical EMAS, to explore Early Access Programs: collaborating, listening and educating effectively with patient groups.
Naomi will be joined by Christine McCracken of Head, Patient Strategies & Solutions, Janssen Pharmaceutical Companies of Johnson and Johnson and Alix Hall, Managing Director of the Isaac Foundation in Canada to discuss best practices for meaningful patient engagement with pharma and patient groups, drawing on the example of an Expanded Access Guide created for patients as a resource to support understanding on expanded/early access in each individual country. The guide was put together through strong collaboration between pharma and patient groups in response to patient and family requests for a resource on this topic. Naomi told us:
“Partnerships between pharma and patient groups are so vital for many reasons that I am extremely passionate about. Listening and engaging with patients in order to achieve positive, mutually beneficial relationships is a fundamental part of rare drug development. Drug development for patients must be with patients – incorporating all their unique experiences and perspectives.
RAREsummit is a wonderful platform to listen, learn and engage with the rare disease community. We can learn a lot from listening to each other’s experiences and perspectives, I am most looking forward to hearing the rare community’s stories and their thoughts on positive pharma and patients partnering.”
Do come and join us at RAREsummit21 on 7th October 2021 to hear from Alex, Amy, Sophie, Naomi and 300 of the greatest minds in rare disease. All summit content – talks, exhibits and gallery are available for 30 days following to ticket holders.
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.
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.”
“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.
“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 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!”
“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.
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 toimprove efficiency, patient experience and research.
Maximising collaboration withthe 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.
Cecily Morrison is a principal researcher at Microsoft Research in Cambridge. She leads a multi-disciplinary team that innovates new technologies to enable people. Last month Cecily was awarded an MBE for services to inclusive design. She and her team are exhibiting at RAREfest20. More on that later, but first …
Congratulations on your MBE! How did that feel?
I was extremely pleased that inclusive design has been so clearly recognized. Inclusion is not a ‘nice-to-have’, it is essential for a diverse set of people to take part in society. I am grateful that I’ve had the opportunity to make technology, working with amazing teams, that supports people with their inclusion.
What does Microsoft in Cambridge do in terms of inclusive design?
Inclusive Design is a really good way to innovate. By working with those with unique perspectives, it can help a team think about a problem in a different way that can benefit all. Our team is currently focused on building AI tech to help people who are blind or low vision better understand who is in their immediate vicinity.
What kind of products do you work on and what difference do they make?
One of the products specifically mentioned in the MBE award was Code Jumper – a physical programming language for teaching the basics of coding and computational thinking to children ages 7 – 11, regardless of their level of vision. This came about after engaging with a community of young blind and low vision people in Cambridge, a community that my son is now part of. Coding is a key part of our curriculum, but it isn’t accessible to those who are blind or low vision. We wanted to build something that would allow children who are blind or low vision to code alongside their sighted peers.
How does Microsoft work with people with accessibility challenges?
Microsoft believes in accessibility from the top down and the bottom up. Whether in research (like me) or in product, we work with people to understand their experiences now and in the future.
Why is inclusive design important and why is it often difficult to get products adapted?
I believe that we need to take a disability-first approach, not disability-last. If it works for those with disabilities, it is much easier to make it work for the mainstream. We are moving into the next phase of AI tech and I would highly encourage those with disabilities to get involved in disability-first datasets, such as https://orbit.city.ac.uk/phase-2-data-collection/
What can people expect from the Microsoft booth at RAREfest20?
We will be showing some of our tech and giving you the chance to try out inclusive design. Whether it’s a tool you can bring as a patient to groups you work with, or as a student who wants to approach the world in a more inclusive way, there will be something for you to learn.
Ten-year-old Dana from Boulder, Colorado, is no ordinary kid. In fact, she’s done something extraordinary in the quest to find treatments for rare diseases. What started out as a fundraiser to help her friend Mila has now turned into a lucrative non-profit cookie enterprise where every batch equals much needed cash for cures. At RAREfest20, Dana will lead a cookie decorating workshop and answer your questions. She hopes you’ll be inspired to get baking, too!
How did Cookies for Cures start? It started when I was 7. At speech therapy I made this amazing friend called Mila. She was really nice and really bubbly. We’d just talk and play together. When I found out she was sick with a rare and fatal disease called Batten, I just had to help her. Me and my mom came up with the idea to sells cookies. That’s how it started. We called it Cookies4Mila. The next year we decided to set up a non-profit called Cookies4Cures. So far, we’ve baked about 17,000 cookies and raised over $100,000. Each cookie is hope.
Why cookies? Well, I’d never baked before, but I loved eating cookies. Originally, I thought I’d sell cold lemonade but that wouldn’t really work in the winter. We were planning to raise money all year round. Cookies were perfect, because you can eat cookies in the summer, in the winter, when it’s hot, when it’s cold. Who doesn’t love cookies?!
What’s been the response? Surprisingly, a lot of people say they could never do what I’m doing, but I don’t think that’s true. We can all make a difference. You just need to start!
This is about raising money, but also awareness. Do you think you’re making a difference? I’m not that well known, but I know I’ve made a difference to Mila’s life. We raised around $50,000 to pay for treatment and that prolonged her life.
How has Mila’s rare disease impacted on her? She’s a completely different person to how she was when I met her. She can’t see, she can’t talk, she can’t walk, she can’t do so many of the things that she used to be able to do. It’s really tough.
What have you learnt as a result of your work over the last 3 years?
I have two other friends with rare diseases, Ollie and Ben. I’m not sure I’d know about rare diseases if some of my friends hadn’t got them. It’s made me realise that, as a whole, rare diseases aren’t that rare. Doing Cookies4Cures has made me less afraid to speak up and help my friends.
Who is your hero and why? Greta Thunberg. She spoke up for what she believed was right and she doesn’t let anyone stop her!
Where’s your favourite place in the world and why? I’m not entirely sure. Probably eating cookies! Mum has a rule on that we can’t eat any cookies until after a bake sale is done.
What is your greatest achievement? Prolonging Mila’s life. That feels like the most important thing that ever happened. It let me enjoy more time with her.
What is your hope for rare disease? I hope that one day there’s a treatment for every single rare disease, so no one has to suffer, or watch their friends die or get so sick that they can no longer recognise them.
Sarah Lippett will be talking about her book “Puff of Smoke” at RAREfest20
““Too often you’re seen as a number, rather than a human being. That needs to change.” – Sarah Lippett, Artist, Illustrator, Author and owner of two rare diseases
If you are a young person on your diagnostic journey or you’ve travelled that path yourself or with a loved one, then you’ll want to check in with RAREfest20 exhibitor, Sarah Lippett. Why? Because Sarah, who has two rare diseases, knows better than anyone the impact of ‘not knowing’ and the frustration of misdiagnosis.
Sarah’s comic book memoir ‘Puff of Smoke’ is all about the isolation of being undiagnosed. Her journey lasted from the age of seven to eighteen, a young lifetime of lengthy spells in hospital, lost friendships and missed opportunities. As an author and illustrator, Sarah wanted to create something that would give hope to young people on their diagnosis journeys – and raise awareness within medical circles.
Visit Sarah’s Crayonlegs exhibit at RAREfest20 – tickets here https://www.camraredisease.org/rarefest20/
At 12, Sarah was diagnosed with FSGS, a rare condition that causes scar tissue to develop on parts of the kidneys that filter waste from the blood. Not so rare. It actually affects 1 in 17,000 people. With medication, her condition stabilised long term.
Then, at 18, Sarah was also diagnosed with Moyamoya, which is far more unusual, affecting 1 in a million people in the UK. It causes the blood vessels to the brain to become narrowed, leading to paralysis and stroke. An operation all but cured this allowing her to live a full, busy life.
Last month, after sixteen years, Sarah’s FSGS symptoms returned, throwing her back to the uncertainty of her early years. It is a stark reminder of how uncertain life is with chronic illness and how dramatically life can change.
“One minute I’m taking my health for granted, running marathons, travelling with work as an artist and writer, lecturing at university and publishing a second graphic novel with Penguin. Then suddenly, overnight, here I am with deteriorated kidney function. The disease is back and I’m suffering on high dosages of my treatment like when I was a child.”
Join Sarah at RAREfest20 to explore her exhibit and discover more about her diagnosis journey and her life since.
“It’s a life I thought was in the past, but it’s different now. I’m an adult with responsibilities, a career and a real life. My mum and dad aren’t my carers anymore. I feel I have to be even stronger now but it’s very, very hard. In a way, the only silver lining is the pandemic. My condition would prevent me going onto the university campus, but thankfully I’m able to teach my students online. This gives me connection to the outside world, happiness and distraction. I don’t feel jealous that I’m missing out, because we’re all at home, restricted, and there’s something comforting in that. I’m taking pleasure in smaller things – walks around my new home of Portobello in Edinburgh and trying to remain hopeful that this is just temporary. It will pass.”
Who is your hero? My mum and dad. If it wasn’t for them, I don’t know if I would ever have got a diagnosis. They fought for me and never treated me any different to my siblings. Even when my body was out of control, they burned it into the back of my mind that I can do anything I want. I’ve lived my whole life with that positivity.
Where is your favourite place in the world? Anywhere my husband and my dog are! I love Portobello Beach in Edinburgh. It’s incredibly relaxing and calm. Scotland is stunning. It’s a wonderful place to live.
What is your greatest achievement? Being a published author twice, against the background of my school life which was ‘You’ll never achieve anything!’ I also have a BA degree and an MA from the Royal College of Art, which I’m really proud of.
What is your hope for rare disease? I hope that the community keeps growing and that awareness keeps growing. I hope the route to diagnosis gets shorter for everyone.
Known as the DNA doctor, Melita Irving is passionate about … well, DNA! She works as a consultant in clinical genetics at Guys and St Thomas’s Hospital, specialising in conditions that affect the skeleton. Last year Melita’s book ‘The Human DNA Manual’ was published by Haynes, covering everything from how DNA catches killers to identifying long-dead kings! Who’s the book for? Anyone with DNA!
At RAREfest20 Melita will be doing a live DNA extraction, not on a human (phew!) but on a strawberry. She’ll be interviewed by Dr Lucy Mackay from Medics4RareDiseases, a charity that drives an attitude change towards rare diseases amongst medical students and doctors in training.
We caught up with Melita ahead of RAREfest20 to talk all things DNA…
What does a genetic scientist actually do? Genetics impacts upon every system in the body and affects everybody! The most common type of referral into the clinical genetics service is a child who is not meeting their developmental milestones. Maybe they’re not growing as expected. Maybe they look different. Maybe they have an abnormality, like a hole in the heart. The question needs to be asked: Is this child just unlucky or could there be one single explanation that accounts for everything – and could it be genetic? Being a genetic scientist is exactly like being a detective, looking for that key clue that leads you down the right path and not being confused by any red herrings that are thrown in the way.
How has technology changed the way rare diseases are diagnosed? There are 20,000 genes, all of which can go wrong, and there are 8000 listed genetic disorders that are classed as rare diseases. Up until very recently we’ve been absolutely hamstrung by our ability to do genetic testing for diagnostic purposes. We used to put all the clues together, do our ‘best guess’ diagnosis, see if there’s a test available and then get that test done. After all that, you find you’ve been on the wrong path the whole time. So, you’d have to come back up that path and go down another one. Rinse and repeat. It could be a very long drawn out process that never led to any answers.
However, we are now in an era where we can do high throughput genetic testing. We are able to look at all the genes in one go and focus all our attention on those we think are relevant to the story. You can go down ten different paths at the same time! We are anticipating that in the next year or so the speed at which we get to diagnosis through genetic testing will be much quicker. That’s all down to technology and whole genome sequencing.
Why are rare diseases so hard to diagnose? Not many people know about rare diseases and there are so many of them, plus there’s no one type. You might have the same diagnosis as someone else, but the format of your rare disease is completely different.
Another problem is at medical school we are frequently told not to worry about rare diseases and concentrate on more common conditions. This means rare diseases are never fully appreciated and that bit of the ‘doctor brain’ never gets to develop. Medics4RareDiseases are pushing for more learning at medical school and in early stage careers, so rare diseases become something you must think about.
Technology has opened up the door for a much more rapid diagnostic system for rare disease, which will mean they will be pushed up the agenda and that will encourage greater awareness.
Who is your hero and why?
Rosalind Franklin. An unsung hero who doggedly worked away at discovering the structure of DNA, didn’t get recognition for her amazing work, but didn’t make a fuss about it. I’ve seen the photograph she took that led to the understanding of DNA as a double helix. It’s a wonderful thing to behold.
Where’s your favourite place in the world and why? This year I didn’t get to go to any the events I usually do, but I did manage to get a holiday! I went to Rhodes in Greece and it reminded me how much I love all things Greek! The sky, the sea, the food, the language. Just lying on the Mediterranean in the sunshine with the prospect of a delicious lunch on the beach is probably one of my favourite places to be.
What is your greatest achievement? The book! I’m delighted with how it’s turned out. It looks so pretty and is accessible to people who might not know anything about DNA. If I can impart my love of DNA to other people, that would be a very fine achievement.
What are your hopes for the future of rare disease? With all the improvements in how rare diseases are diagnosed, it would be really great if the next step was finding treatments that will make things better for patients with rare diseases. That’s where I’d like to see the future going.
“The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors,not least the ability to connect with others who have that shared experience and knowledge.” – Ceridwen Hughes, Same but Different
Founder of Same but Different, Ceridwen Hughes, will lead a webinar at RAREfest20 all about the diagnostic journeys faced by parents of children with rare diseases. It’s based on the critically acclaimed film ‘Journey of Hope’, which Ceridwen directed. Here she talks to us about the importance of diagnosis, her hopes and her heroes.
As a parent of a child with a rare disease, what does RAREfest20 mean to you – and your child? Awareness about Rare Diseases and the celebration of this wonderful community is really important. RAREfest is a brilliant opportunity to bring people together and share experiences, whilst also educating one another and the wider community about all things rare!
From your research and your own experience, what frustrations do parents face in their diagnostic journey? In our film, ‘Journey of Hope’, I think Iggy’s mum, Sarah, explained it perfectly. She said, “The diagnosis certainly doesn’t give us simplicity, but it gives us a starting point. It gives us a starting point to begin to understand what Iggy needs. Before that, we had nothing.”
Our own diagnostic journey was relatively short. It took 11 months, but this felt like a long time to us. Sadly, for so many, it can take many more years. The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge. When I chat with parents as part of my work, we immediately have that shared bond, even if our child’s rare disease is very different. You just ‘get it’.
There are so many barriers in place before you get a diagnosis, including from some medical professionals. We recently gave a talk to medics. Whilst grabbing a coffee, a consultant said that he often saw patients in his clinic and, even if he knew what their condition was likely to be, he did not see a value in telling them. This arrogance and lack of understanding needs to be addressed. It is one of the main drivers for creating the ‘Journey of Hope’. We wanted to open up dialogue about the importance of a diagnosis whilst also highlighting it is not the answer to all your problems.
Does life become easier with a diagnosis? From our experience one of the things that is important when you get a diagnosis is that you don’t only look at disease-specific information. The answer to a problem often comes from other sources and other diseases. Through our Rare Navigator service, we support families with any rare disease. It has been helpful in sharing ideas or solutions that others, often with very different diseases, have found works for them. The knowledge within the rare disease community is vast and it is important it is shared across the spectrums.
You have spoken to and photographed numerous people with rare diseases. What have you learnt about the rare disease community? Over the years I have spoken to so many people affected by rare disease, including parents, individuals affected and other close relatives. The word that jumps out is resilience. The strength to keep on getting back up, even after the most incredibly difficult times, is awe inspiring. The rare disease community is always on hand to provide information, support and a big hug when needed.
Dr Giles Yeo says the biggest challenge is convincing people that understanding rare diseases benefits the whole of society. Do you agree? Absolutely. Finding treatments for rare diseases that can be used for more common ailments is just one example. In a world where people are often judged on what they look like rather than accepted for who they are, it makes it even more important that society is aware of rare diseases. Recognising the challenges people go through will ultimately lead to a kinder, more compassionate community.
One of the reasons I set up ‘Same but Different’ was to capture the person behind the condition rather than simply show their disability. We use photography, video and written narratives that give the individual a stronger voice in their community. Often, it’s the first time they have shared their very personal experiences. It has really helped others understand their challenges.
Who is your hero and why? I am incredibly lucky that each day I get to work with my heroes. I know it sounds a bit corny, but my heroes are each and every parent whose child gets a rare disease diagnosis and has to carry on and fight for their child to access the treatments and support they need. These are the parents who have to smile when they are condescended to. These are the ones who have to smile when their heart is shattering because, once again, their child is overlooked or underestimated.
Where’s your favourite place in the world and why? It has to be Finnish Lapland, a small ski village called Levi which is far above the arctic circle. We had the most magical week’s holiday there. It was the first time we went on a husky ride through the snowy forest at -21 and Isaac fell asleep on a sledge whilst we looked for northern lights. A close second would have to be Tromso in Norway, again a magical place in the winter.
What is your greatest achievement? Picking up the camera for the first time and having the courage to follow my dreams and change career in my 40s. I would also say setting up an MDT for Moebius syndrome when one did not exist before.
What is your hope for rare disease? I would hope that one day it is recognised for not being rare and, with that, people may be more willing to look at the overall impact these diseases have on health, education and the community as a whole.
Dr Giles Yeo works at the University of Cambridge, studying the genetics of obesity and the mechanisms of how our brain controls food intake. While interested in the general population, Giles says information garnered from studying rare disease patients with severe obesity helps understand the biology which has a broader impact on society and everyone else. We spoke to him ahead of his talk at RAREfest20
< Giles chats about CamRARE’s RAREfest20
Why is RAREfest so important? The vast majority of conferences I attend are within the academic bubble. You’re talking to other scientists and speaking in jargon. Presenting at an event like RAREfest, you have to think harder about what you’re going to say. Not only are you talking to scientists, but also patients and their families. For me as an academic and a scientist, this is always a gut check. Scientists can be myopic when they’re sitting in the lab moving small volumes of colourless liquids around. This a reminder that at the end of the test tube there is a human being and we’re trying to stop their suffering.
RAREfest brings together the people doing the research with the people suffering from the problem. This provides more perspective and I think drives better science.
Patients affected by rare diseases say they’ve been all but forgotten during the pandemic. Why do you think this is? The problem with rare diseases is like the name says, they’re rare. These conditions have a huge impact on the individual affected, but on a societal level, very little. When you’re going out and about talking about a condition, your words will influence the patients and the families affected, but for the average person, when you say the condition only affects 1 out of 15,000 people, they don’t feel concerned.
Human beings are inherently selfish because we’re interested in self-preservation. With a limited number of neurons in our brains, we want to worry about what impacts the majority of society rather than what impacts a small proportion of society. This is the problem. This is the value of having Cambridge Rare Disease Network and events surrounding rare disease because while each disease is, by its definition, rare, these events allow you to build critical mass. You can begin to group the conditions together.
For instance, each of the individual genetic conditions that result in severe obesity is going to be vanishingly rare. But once you group them all together, they explain a significant proportion, around 1-2%, of obesity.
What are the greatest challenges facing RD patients? It’s all about money. How do you convince someone to fund your study of a rare disease? If you’re a charity, how to you get the man on the street to part with his hard-earned bucks? And, how do you persuade a government funder or big charity that this is an important disease to study, compared to the big four – cancer, cardiovascular disease, obesity and diabetes. I’m not trying to compare the severity or the relevance here, but it is a challenge to frame your argument that the study of rare diseases is important.
What would be the biggest step forward for the rare disease community? That would be to convince society that they should care. I know it sounds callous, but large proportions of society say, ‘I’ve got other problems, I don’t have to worry about you.’
Why should they care? They have to care because while the disease in itself is rare, it is influencing a universal pathway. For example, understanding what influences your body weight opens up greater possibilities and new biology for understanding this problem for the broader community. Studying this as a rare condition may result in the development of a drug that not only helps a rare person but broader society. Understanding rare genetic variations help develop universal pathways that impact everyone in the species.
Tell us what people can expect from your talk at RAREfest20. I will chart the story about how studying rare diseases of obesity has given us new insight into normal variations of body weight. Why are some people small, medium or large? Our knowledge stems from, largely, the study of rare diseases. I want to convince people that by us understanding a rare condition there is a benefit to broader society. Again, it’s about showing people and policymakers why it’s worth supporting research into rare disease.
Who is your hero? My PhD supervisor, the Nobel prize winner, Sydney Brenner. I was his last PhD student. He took a chance on me and gave me my love for genetics. He died last year, but his impact on me remains.
Where is your favourite place in the world? San Francisco. That’s where I did my undergraduate degree. My dad is still there. I love going there for holidays and to see my family.
What is your greatest achievement? I haven’t achieved it yet! I’d like society to understand that your body weight is not actually a choice but biologically driven. That’s my goal. The world would be a much kinder place.
What is your wish for rare diseases? For society and funding bodies to understand why it’s worth investing resources to study rare diseases.
Hannah & Nicole, the winners of the RAREsolutions competition 2018 with Jonathan Milner
Enthusiasm, Curiosity, Initiative
Winners of RAREsolutions poster design competition 2018 share their insights for this year’s challenge!
If you take a sprinkle of artistic talent and a splash of passion for medicine and health, you have a winning formula for success! Nicole and Hannah pooled their talents to produce a brilliant entry for our first ever RAREsolutions STEM poster competition, impressing the judges with their creativity and determination for making a difference.
RAREsolutions is a poster competition with a conscience, pushing for change by design. It’s part of the RAREfest20 rare -disease inspired festival and is open to anyone in Years 7-13. All you have to do is watch the RAREsolutions challenge videos, pick the one that inspires you most, and go for it.
As we launch our new and exciting RAREsolutions 2020 STEM competition, let’s hear from the dynamic duo who scooped the prize last time.
Hannah & Nicole share their thoughts about the RAREsolutions design competition
Why did you enter the competition?
Hannah: We found out about the RAREsolutions poster competition in our school bulletin. I was immediately drawn to take part as it really struck a chord with me, having recently learnt about genetics in biology. I have a real passion for medicine and health! I knew instantly I wanted to take part with my friend Nicole, who is really good at art and design. Combining our talents and being able to work collaboratively really appealed to us. It’s not often we get to work as a team!
What inspired your design?
Nicole: The first steps was to decide which challenge we wanted to design a poster for. On the CamRARE website there were three different challenges set from people with rare conditions. They asked us to create innovative solutions to help them live more independent lives.
Hannah: The one that really resonated with us came from Eilidh. The quest to make playtime more fun and accessible. Eilidh has KAT6A syndrome, an extremely rare genetic neurodevelopmental disorder. This can impair or alter growth and development of the brain and central nervous system.
What research did you do?
Nicole: We had a few weeks to research the condition, contact Vaila (Eilidh’s Mum), find a solution and design the poster. It was amazing to take part in a project that combined science, research skills and design.
Hannah: RAREsolutions was not dry like the usual essay writing competitions and gave us the change to come up with a real-world solution. Life can throw up all sorts of accessibility challenges for those living with sensory and physical disabilities, but actually they are people just like you and me. They want to live life to the full, but the environment makes that tough.
I’d recommend taking part in this competition to anyone. It not only helps patients with rare diseases live better lives, but also changes your own life!
Hannah
Winners of the RAREsolution 2018 competition
You presented your winning idea at RAREfest18. How did that feel?
Nicole: We were hugely proud of our achievement but also daunted at the idea of presenting to an audience of genetic experts, having only previously made presentations at school!
Hannah: It really helped having each other for support. We put together a presentation and also produced a tri-fold leaflet. It was a fantastic opportunity to stand up in front of an audience of people from the rare disease community, ranging from genetic scientists to patients and their families. It was an incredible experience!
How has this competition changed your lives?
Nicole: It has really inspired me to find out more about how rare disease affects patients, not only the biology aspect also the social implications and how people can be marginalised. Taking part in the competition gave me more confidence and led me to focus on eugenics for my Year 12 project.
Hannah: On the day itself, we met some great people and made some really useful contacts for the future. I found myself having a conversation with someone from the Stem Cell Institute, which prompted the subject for my Year 12 research project about stem cell treatment and therapies for Type 1 Diabetes.
The RAREfest20 RAREsolutions poster competition is now LIVE!
RAREsolutions poster competition is part of RAREfest20, a vital, vibrant, virtual festival that champions the rare disease community, bringing together the brightest scientific minds, the most innovative tech, the medical pioneers and, of course, the patients, who are as unique as the festival itself.
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)
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?
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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