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.
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:
Helping patients get a final diagnosis faster
and for research into previously unrecognised conditions to help identify and diagnose new rare diseases.
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.
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.
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.
Jo Balfour is managing director and a founding member of Cambridge Rare Disease Network (CRDN), a charity that brings together stakeholders from research, industry, business, healthcare and patient advocacy groups making a real difference in the lives of people living with rare diseases. Jo manages the overall operations of the charity, including their diverse events programme – RAREfest and RAREsummit, networking and educational events. She has 25 years’ of previous experience in secondary teaching, specialising in the field of special educational needs and children in care.
“Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.”
Getting into teaching children with special educational needs and disabilities
Following a baptism of fire in an all boy’s comprehensive school in Liverpool, I moved to London. Teaching there was a turbulent and life-changing time working in a vibrant but challenging inner city school. It was here that my path into specials needs education was carved.
I went on to manage the special educational needs and disabilities (SEND) department in schools in London and Cambridgeshire before becoming an advisory teacher for children in care in 2003.
My move into special educational needs teaching was within a mainstream school environment. I worked with many young people who struggled with this environment and was inspired by the specialist teachers I worked alongside in London who were able to differentiate, be adaptable, empathetic and creative to find ways of engaging all young people, irrespective of their learning or physical challenges.
I wanted to be able to help all young people find their place in the world and take part fully in a way that worked for them. Often it is the world around the child that is the barrier to them being fully enabled.
In 2015 I became a founding member of the Cambridge Rare Disease Network (CRDN), a passionate group of people intent on pulling together the disparate parts of an emerging rare disease research and therapeutic community within Cambridge’s science parks, the Biomedical Campus at Addenbrookes and the universities.
I was part of a team who held the first CRDN summit at Cambridge Judge Business School where we packed the room with experts and the curious to hear from rare disease pioneers from around the world.
Over the following five years I gradually devoted more time to the charity, creating and delivering their diverse events programme and establishing the UK’s first regional children and family’s group for those affected by any rare disease, Unique Feet. I took up the role of managing director of the charity a year ago following the retirement of our CEO, the inspiring Kay Parkinson, who lost both of her children to Alström Syndrome.
Supporting those with rare diseases
CRDN has three main areas of focus: raising awareness; promoting cross-sector collaboration; and supporting families.
To raise awareness and promote collaboration, we have developed a diverse events programme including our RAREsummit and Companies Forum which cater for the key stakeholders in rare diseases – the patients, patients advocacy groups, healthcare professionals, established and start-up pharmaceutical and biotech companies, researchers and policy-makers.
These events showcase emerging science, technology and advocacy and provide interactive opportunities for debate, networking and nurturing alliances.
We also deliver collaborative events with other organisations to reach audiences that are vital to making a difference, but more difficult to engage, and we take part in and deliver a broad range of public-friendly events to make sure rare disease is firmly embedded in more mainstream agendas.
Our Unique Feet community group is at the heart of all we do. This is a flourishing community of families affected by a wide range of rare conditions. Many will never meet another person with the same disease and their rare disease journey can be a lonely and torturous one, often plagued by the lack of a diagnosis, misdiagnosis, few available treatments and support.
We support the group to do fun activities together which are accessible, whatever their learning or physical needs. They have so many similar experiences, irrespective of their condition that they really feel they have found their tribe. The families are a passionate collective voice for rare disease in our community, speaking at events, engaging with the media, serving as trustees and advocating whenever they can.
Creative thinking, inspiring and cajoling, forensic planning, juggling and management
I rarely have two days the same and couldn’t begin to list the vast range of roles I undertake and tasks I do.
A significant part of my time is spent creating and delivering events of some description. This generally follows a linear path of creative thinking, inspiring and cajoling, forensic planning, juggling and management. We pride ourselves on being innovative and tackling problems in ways that others aren’t, on a shoestring, with a tiny core team.
The inspiring and cajoling aspect of my work is essential to persuade the right people to take part as speakers, exhibitors and volunteers, to engage experts and companies to help us with aspects of the work pro-bono, to encourage sponsors to fund our events and to inspire people to attend. I spend a lot of time building relationships with others and making them feel part of the team.
The forensic planning involves everything from developing social media schedules to managing budgets, creating marketing plans and maintaining immaculate logistics to ensure the events run smoothly. And management is a case of keeping my virtual team motivated, inspired and in tune and time with each other whilst keeping tabs on an army of volunteers.
I also take time to engage with our Unique Feet group whenever I can and help with the planning of their activities and applying for grants to fund these.
More recently our connections have been virtually through our WhatsApp group, socially distanced visits to a beautiful garden that has opened just for us, as well as regular Zoom activities including yoga and wine bar night! We’ve just started creating a virtual dance performance for our upcoming event RAREfest20 so I’m turning my hand to some filming and editing too.
It’s important to not be afraid of turning your hand to anything that’s needed in a small charity. It’s incredible just how much you can learn to do if you’re prepared to give it a go.
RAREfest20 is very much a public-facing event, a full-day festival featuring fascinating talks, a gallery of art, patient journey posters and film, some games and challenges and interactive exhibits showcasing cool science, visionary technology, and pioneering organisations improving lives and bringing hope to those affected by rare diseases.
The event is free and there is content for children and families, the experts and the curious. Everyone’s welcome!
Despite our plans to hold this event at the historic Guildhall in Cambridge, we’ve found an all singing all dancing virtual platform to try and emulate that festival feel. The aim of the festival is to kindle curiosity about rare disease, to educate the public and help dispel myths.
In 2018 we had 1000 attendees over two days and this year we hope to reach an even wider and more diverse audience from around the world.
The challenges people with rare diseases need to face
Those living with rare diseases were already struggling with delayed diagnosis, few treatments and uncertain care pathways. We call them ‘rare’ because each disease, individually, often affects only a few people.
However, there are more than 8,000 rare diseases, probably more as many remain undiagnosed their entire lives, so are collectively common. With 1 in 17 people affected, around 3.5 million in the UK and 350 million people worldwide, they have a global prevalence similar to asthma.
But the small numbers affected by each disease mean they struggle to attract attention, funding for research and interest from pharma companies. Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.
Many who rely on carers coming into their homes or on external support such as physiotherapy have seen their services and support networks halted. For those taking part in clinical trials and those running them, the inability to travel to and visit trial centres or recruit patients or redeployment of their teams, has led to trials being paused. Even orphan drugs awaiting approval from regulators have been deprioritised.
Many families were directed to shield by the government and have continued to do so leaving them isolated and disconnected.
Keeping the community connected
We took all of our community activities online as soon as lockdown began providing yoga and catch up sessions to keep families connected. Our WhatsApp group chat became a great resource where mums shared experiences, ideas and tactics to get through shielding. The camaraderie was wonderful!
We received some COVID-19 emergency funding to support this and to enable us to make up and deliver activity bundles to each family once a month. We helped some to get online shopping slots and delivered shopping to others. It was a great team effort and I got as much from the community as they got from us.
During April I was fortunate to work with a team of six Cambridge University PhD students and we used our lockdown time wisely to undertake a five-year impact review and report for Unique Feet. The students were incredible, interviewing every family via Zoom and creating a beautiful testament to the success of the group.
This multi-stakeholder coalition of UK-based experts involved in rare disease across different sectors – from patient advocacy professionals, data-managers, academics, healthcare and industry.
We are united in our goal to bring benefit by exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic in order to plan for a better response to future crises and improve the rare disease patient journey post COVID-19.
ARDEnt hopes to illuminate examples of creative adaptability and best practice which could be utilised more widely in the future. Findings and recommendations from ARDEnt’s Making the Unseen Seen project will be delivered as a report in order to influence the UK Rare Disease Strategy 2020 creation and implementation.
RAREfest20 is our next major activity but this will be closely followed by our first foray into speed-dating. As part of our Companies Forum initiative, we’ll be hosting a partnering event between our forum pharma and biotech members and a selection of patient groups to facilitate better patient engagement in the drug development process.
We’ll be moving on in 2021 to the creation of our next RAREsummit and have plans to expand our community support programme by partnering with another charity called Same but Different who have been piloting a Rare Navigator programme, providing a caseworker for families affected by rare diseases.
We plan to hold some new joint events with others including a collaboration with the Eastern Academic Health Science Network to help spark innovation in solving the problems of rare diseases identified by patients themselves.
We hope to see the future development of ARDEnt as a truly collaborative project and to use this as a vehicle to hold devolved governments to account in the development and implementation of the UK Rare Disease Strategy due to be published at the end of 2020.
I plan to continue to lead CRDN into new ventures and to do what we do well in the service of those living with rare conditions.
CRDN were delighted to recently take part in a new Rare Disease campaign in the New Scientist Magazine published on 24 Sept. It is dedicated to raising awareness of rare diseases featuring exclusive content from key thought leaders (including CRDN!). It discusses the importance of collaboration in rare disease and the potential silver linings that can be found in the midst of a pandemic. You can pick up your copy in shops now or read our article and the full the rare disease campaign online here at Health Awareness.
“Dr Lucy McKay from M4RD, Rebecca Stewart from Rare Revolution and I came together in March 2020 with a mutual concern about how devastating the impact of COVID-19 an the global response to it was on rare disease. Concerns focussed around delayed diagnosis as genomic and medical services were halted, patients medical and social care crumbling around them and the prospect of cancelled research and delayed clinical trails and drug approvals as resources were diverted away. We shared a collective drive to make sure we learned everything we can about how the pandemic has affected those with rare diseases and rare disease services – the risks, but also opportunities such as the overnight opening up of networks by using digital communication.
From some initial discussion Action for Rare Disease Empowerment (ARDEnt) has grown – a collaborative multi-stakeholder group from across different sectors and industries. Because if we can’t all come together for rare disease now, when will we?”
Contrary to the isolation of lockdown, a vibrant and vital new collaboration emerged. Action for Rare Disease Empowerment (ARDEnt) is a cross-sector
coalition of 30 UK-based experts involved in rare diseases.
Concerned at the impact of COVID-19 on those affected by rare diseases, three leaders replaced isolation with collaboration. The ARDEnt team was assembled by Dr Lucy McKay – CEO of Medics4RareDiseases, Jo Balfour – Managing Director of Cambridge Rare Disease Network and Rebecca Stewart – CEO of Rare Revolution Magazine, building an expert cross sector group; from patient advocacy professionals, data-managers, academics, healthcare and industry.
ARDEnt is united in their goal to bring benefit. By exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic, they hope to plan for a better response to future crises and improve the rare disease patient journey, post COVID-19. The team’s investigations illuminate examples of creative adaptability that could be utilised more widely in future. A report outlining findings and recommendations from ARDEnt’s ‘Making the Unseen Seen’ project will be shared with government in hope of influencing the UK Rare Disease Strategy 2020 creation and implementation.
Prolonging the ‘diagnostic odyssey’
Rare disease diagnosis is long and arduous, averaging over five years. Primary care’s one-problem-at-a-time and secondary care’s one-body-system-at-a-time approaches are rarely compatible with these complex diseases. Patients are bounced in a game of medical ping-pong between specialists until a someone looks holistically and takes charge.
75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday.
With health services being stripped back as a response to the pandemic, the former status quo will potentially be more desirable than the ‘new normal’ for rare disease diagnosis. ARDEnt is examining how the pandemic has exacerbated the problem of diagnostic delay. Something we can ill afford when ~75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday. However, opportunities have also opened up because of the pandemic, such as reduced communication barriers between specialties and more information sharing. ARDEnt wants to harness these to change the outlook for rare diagnosis.
Confusion, cancellation, and silver linings for coordination of care
For patients with rare diseases, the pandemic brought anxious waits for confirmation of their risk level and shielding letters, followed by cancellation of vital services. Essential in-patient treatments, physiotherapy, day care and home care support were halted.
Additionally, the Coronavirus Act suspended legal duties to provide support for children with special educational needs and families of children with rare conditions found themselves grappling with home schooling and care needs alone.
As health, social care and education services begin to return to the “new normal”, ARDEnt are finding some services, vital to the wellbeing of families and patients affected by rare disease, facing delays and no clear directives for restarting.
Amidst the challenges there are opportunities. For those with Autism Spectrum Disorders, the slower pace of life and reduced crowds have been beneficial. Also, the overnight adoption of telemedicine has demonstrated its benefits and limitations for the future of healthcare.
Entering a new virtual reality
Patient groups have long challenged the traditional drug development timeline and methods that don’t work well for rare disease patients who are, often few, widely spread and are running out of time with progressive diseases. ARDEnt’s investigations show that COVID-19 has further damaged a fragile system with research studies, clinical trials and drug development projects postponed or cancelled. But there is hope.
Patient groups have long challenged the traditional drug development timeline and methods that don’t work well for rare disease patients.
Could new methods translate into more effective, efficient outcomes allowing for a continuation of services in a future crisis?
Remote signing of consent forms and remote audits: monitoring health through wearables; telehealth; deploying specialist nurses to collect bloods; and posting oral drugs – this pandemic has led to an almost overnight digital health revolution and a rethinking of how we can develop drugs when there is a time imperative. A precedent has been set and it is imperative these lessons are highlighted and adopted for the benefit of rare diseases.
At CRDN 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 CRDN 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, CRDN 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.
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.
For third sector organisations, trustees are the beating hearts behind the scenes sharing ultimate responsibility for governance and direction.
CRDN is proud to have such a talented board at its helm and we caught up with two of our Trustees, Dr Sarah Leiter and Ilan Chaitowitz, who each bring their individual skills and insight to the charity, to find out more about what attracted them to the role, what they hope to bring to the charity an their hopes for the future of CRDN.
Being involved in CRDN has been fantastic!
Dr. Sarah Leiter
CRDN Trustee – Dr Sarah Leiter
Sarah was born and raised in Germany before moving to the UK where she studied medicine at the University of Cambridge. Sarah explains, “I first got involved with CRDN at on of their rare disease lectures in 2017.”
At the time she was studying at medical school and was in the process of launching a student rare disease society. Sarah not only has a personal connection, she is a rare disease patient herself, but also as a scientist and medical doctor this combination has further piqued her interest and she offers a uniquely broad perspective. Sarah says of being a trustee at CRDN, “…when I was asked to join the board it seemed like the perfect opportunity to get more involved!”
Sarah’s passion and enthusiasm to help people is one of the driving forces behind her becoming a trustee. Living with a rare disease, Sarah can bring her own experiences and insight, understanding first-hand the frustrations that patients and their families can experience. In addition, having completed her PhD studies on a rare syndrome, Sarah also understands how research is carried out. Now a young medical doctor based at Addenbrookes Hospital in Cambridge she aspires to pursue a career in medical genetics.
Sarah making DNA models at the CRDN Rare-i-tea party on Rare Disease Day 2020
Sarah describes how through her work as a trustee at CRDN, she has had the opportunity to learn a lot more about the industry around rare diseases and be part of some fascinating collaborative projects. As a trustee Sarah has had the chance to meet regularly with others involved in the rare disease community, further inspiring her to continue with her medical and scientific career.
Sarah’s hope for the future is to see the network grow and flourish, engaging more individuals, organisations and companies from across different sectors to work together to improve the lives of those affected by rare conditions. She strongly believes, “It’s not all about a cure but life more broadly.”
Trustee & TREASURER – Ilan Chaitowitz
Ilan, our newest trustee, joined the charity at the end of 2019 as Treasurer. Ilan has over 20 years of experience in the finance industry and it was this experience and the passion to spend his spare time, “in the pursuit of others’ wellbeing,” that led him to become a trustee at CRDN.
CRDN appealed to Ilan because, “It seeks to champion the causes of those most in need – the majority are children often with severe disabilities and terminal illnesses. There are usually no treatments and, given the small populations, weak incentives for governments or industry to develop them. CRDN attempts to address these issues through local meetings and activities, public awareness and stakeholder networking events.”
Ilan admires the other trustees’ energy and dedication and hopes to bring this same level of commitment that the others already do, “Their tireless effort has seen CRDN grow from nothing to a real presence in the UK’s rare disease landscape that has touched many lives already.”
Having been involved in the healthcare sector from a corporate perspective throughout his career, Ilan will use this experience and his familiarity with corporate developments on rare disease to drive fundraising efforts for CRDN. His experience in accounting and assessing business strategies also put him in good stead in the role of treasurer.
It (CRDN) seeks to champion the causes of those most in need
talks about why he joined CRDN
First and foremost, Ilan hopes that in his role as a trustee he will earn a sense of accomplishment and make a positive impact on the lives of others. Having spent his career in the world of finance, by contrast, he was raised in a family of carers and doctors. He feels that one thing he has missed out on is the reward of helping others in an immediate and personal way and as a trustee, he intends to fulfil this.
Ilan thinks that the rare disease landscape is at a pivotal point and goes on to explain that “it is incredibly interesting with new scientific tools showing some early promise; gene editing, machine learning and single-batch drug manufacturing. I have also never acted as Trustee in a charity, so look forward to working with others with very different backgrounds to myself to take the charity to the next level.”
Ilan is still new to the role but is already looking ahead to CRDN’s future. His initial focus is to understand the activities and finances in greater detail. He hopes to further strengthen the organisation’s financial foundation which will facilitate even more creative and mid-term planning.
Ilan is already impressed by how well CRDN is doing and the path that it is on. He explains that he wants to, “continue the current range of activities and then broaden them to impact more lives to an even greater extent, in a sustainable way, I would consider that a job well done.”
and and ideaas and innovate Important to every CRDN event is equity of voices and we pride ourselves in bringing together the different rare disease stakeholders on an equal standing. RARESummit 2019 was no different and with innovation and stakeholder voices at the heart of our planning we launched our first Hackathon; “Looking to the Future of the UK Strategy on Rare Diseases”.
The aim of the hackathon was to gather the collective voices of those attending RARESummit and give them a platform and structure within which to feed directly into the newly launched “National Conversation on Rare Diseases” launched in autumn 2019 by Baroness Nicola Blackwood (Parliamentary Under Secretary of State at the Department of Health and Social Care [DHSC].
The outcome was a report capturing the opinions and ideas of the rare disease community: patients; advocates; and professionals on the impact of the existing 2013 UK Rare Disease Strategy and their top priorities for the UK Rare Disease Framework 2020. The report laid out each priority alongside the top-voted innovative idea to help drive this priority area forward.
It is important to hear from the people who know the problems better than anyone else, and to move forward from this current Rare Disease Strategy to the next.
Baroness Nicola Blackwood
To usher in the hackathon, Nicola Blackwood gave an impassioned speech to the summit speaking honestly of her own experience of living with a rare disease and the challenges that brings and calling on the audience to share their experiences and solutions for a future strategy. You can watch her speech and Q+A with the audience below
At RARESummit19 we wanted to capture the moment and give all participants a voice. Could this work? Could we really throw individuals bringing such wildly varied experiences to the table and expect them to listen, contribute, collaborate, compromise and prioritise? Absolutely!
Delegates were invited to participate in cross-sector discussions to identify priorities across five key themes: diagnosis, coordination of care, acceleration of research, access to new medicines and reimbursement options, and patient empowerment. This provided an opportunity for representatives from patient organisations, biotech and pharma, academia and health services to share experience, knowledge, and innovative ideas to identify priorities to further improve the lives of those impacted by rare diseases in 2020 and beyond.
Given a tight schedule of two hours to get into cross sector groups, share experiences and perspectives, thrash out ideas, agree priorities, create pitches, deliver pitches and run through 2 rounds of voting, the pressure was on to stay focussed.
“The whole hackathon took under 2 hours and this time pressure was an important part of the process. We wanted to capitalise on the compressed timeframe to really drill down to priorities” said CRDN’s Operations Manager and creator of the hackathon activity, Jo Balfour.
Not only did the groups discuss their theme priority but they brainstormed and developed innovative solutions to the challenges of delivering a strategy for this priority.
We wanted people to reflect on what they had heard during talks over the course of the day and use this, alongside their own experiences, to agree on priorities and develop solutions to these challenges.
Below is a brief summary of each of the themes, including the winning priority for each theme and the overall winner. Download and read the fullHackathon Reportcreated pro-bono by Cambridge based Med Comms companyCostello Medical.
THEME 1: Diagnosis
Timely diagnosis is one of the fundamental unmet needs for patients with rare diseases and a challenge that many organisations and companies are working hard to overcome. Even with investment in this area current time to diagnosis is on average 4.8 years with patients seeing an average of 7 specialists.
Discussions centred around
• Wider use of prenatal and early years screening
• Whole Genome Sequencing for those with unusual or patterns of symptoms
• Improved collection of quantitative and qualitative data and centralised databases
Voted Top Priority for Diagnosis
To end the ‘diagnostic odyssey’ by introducing a more streamlined process for the diagnosis of rare diseases that prevents patients being moved from GP to different specialist groups within the NHS without an accurate diagnosis. This includes:
• Introduction of a policy whereby patients are flagged if no diagnosis is made within a fixed number of GP visits, or a given time period (such as 12 months). Once a flag is triggered the GP needs to consider a different diagnostic approach such as genetic screening
• Clinical Commissioning Groups (CCGs) could use levers and drivers to incentivise both GPs and hospitals to flag undiagnosed patients; possibly via the introduction of a Commissioning for Quality and Innovation (CQUIN) payment framework
THEME 2: Re-thinking coordination of care
People living with a rare disease often require a complex package of care, including access to clinical specialists across hospital departments, and support from social and community care services. A multidisciplinary and coordinated team approach is necessary to ensure that patients and caregivers have access to integrated care across multiple services, which also considers their needs in daily life at home, school or work. However, results from a recent survey of 3,000 patients revealed over 65% reported having to visit different health, social and local services over a short period of time. In some cases, this can involve significant travel.
Discussions centred around
• The need for dedicated care coordinators to manage the multidisciplinary health teams involved in care of a patient
• GP’s navigating local hospitals and other agencies for specialist care services
• A need for nationally recognised care guidelines and pathways to ensure sufficient signposting to a point of contact for rare disease patients to answer the “What do I do?”
Voted Top Priority for Re-thinking coordination of care
Specific actions recommended during the cross-sector group discussions highlighted some unmet needs in terms of coordination of care:
• Creation of a “shared, cared, digital toolset” that would allow patients, caregivers and healthcare professionals to have access to the same datasets
• Use information to allow shared decision making between the patient and healthcare professionals
• Work at a national level; mandating that interoperability is a standard, overcoming acute needs in this area over the next few years
• Drive payment reform; with reimbursement linked to successful outcomes for patients and not just the healthcare system
THEME 3: Acceleration of rare disease research
Research has played a critical role in improving our understanding of the biological basis of rare diseases and their underlying cause(s). Since the implementation of the Orphan Drug Act in 1983, an increasing number of companies are taking an interest in developing treatments for rare diseases but despite these improvements, 95% of rare diseases still have no licenced treatment, and fewer than 10% of patients with a rare disease receive a disease-specific treatment.
Discussions centred around
• High drug development costs and lack of enough patients for clinical trials
• GDPR and maintaining registries
• Patient access to peer to peer support
Voted Top Priority for Acceleration of rare disease research
To address such challenges the group identified the need for a publicly run, national rare disease registry. ‘RARE Bridge’, would give every patient in the UK with a diagnosis the opportunity to opt in and be contactable. The registry would serve the following key purposes:
• Provide a screening library of genotype, phenotype and natural history of patients
• Provide patient data to the pharmaceutical industry, via a paid subscription, for the purposes of drug development
• Pharmaceutical industries using the registry could search by both phenotype and genotype, potentially offering both symptomatic treatments and cures
• Enable patients and patient advocacy groups to contact other patients with a specific condition or genetic marker, providing an element of social support
THEME 4: Access to new medicines and reimbursement
Whilst a major hurdle for bringing treatments to patients is associated with drug development challenges, delays in treatment also occur because patients face barriers in securing access to new treatments for their conditions. Orphan drugs often exceed cost-effectiveness thresholds in Health Technology Assessments (HTA) due to a lack of evidence for proven clinical benefits of the drug combined with high acquisition costs. Thus, new drugs with potential benefits for patients with rare diseases may not be recommended for reimbursement.
Discussions centred around
• Greater involvement of patients in the HTA process
• International clinical trials as a strategy to help overcome barriers for the enrolment of more patients with rare diseases
• Building robust real-world evidence (RWE) data sets that can be used to support HTA submissions
Voted Top Priority for Access to new medicines and reimbursement
Re-thinking of how economic evidence is generated for rare diseases to include a better understanding of the cost impact of having a rare disease from the perspective of both patients and their carers, for example:
• Introducing a sliding incremental cost-effectiveness ratio (ICER) scale, which incorporates a potential increase for very small populations such as ultra-rare diseases
• Flexibility to account for the use of Quality of Life (QoL) instruments that do not really measure the true impact of rare diseases on patients
• Incorporation of modular tools that account for the broader impact of the rare disease on caregivers, weighted according to the disease (e.g. mobility issues)
• The ICER threshold used by NICE should not be determinative (especially for ultra-rare diseases) and the introduction of Managed Access Agreements (MAA) should be considered when there is uncertainty over funding for a specific treatment
THEME 5: Empowering those affected by rare diseases
Helping patients become more knowledgeable and allowing them to take control over their bodies, disease and treatment is essential, so much so the World Health Organisation has described patient empowerment as a “prerequisite for health” and a “patient self-care strategy to improve health outcomes and quality of life among the chronically ill”.
Discussions centred around
• Using patient data as a route to patient empowerment via a national rare disease registry, where patients can access their own data and search for and connect with patients, participate in research
• Providing resources for patient groups to grow their information technology (IT) and communication skills so that they can support patients to obtain information and guidance on living with a rare disease
Voted Top Priority for Empowering those affected by rare disease
Education and knowledge sharing for patient and patient groups to overcome fragmentation of information and to avoid competition for funding amongst patient groups. This can be achieved by:
• Developing a series of online module templates that outline best practice, e.g. advice for GPs on diagnosing a rare disease, fundraising, policy development, engaging with the research community. Anyone will be able to contribute to these modules and a user rating/feedback system (like TripAdvisor) can be added
• Funding by pharmaceutical companies could be used to give back to patients and patient groups, and provide seed-funding so that smaller organisations are able to grow their capacity
With 31.3% of the votes Accelerating Rare Disease Research was voted as the number one priority. Our cross-sector delegates identified the need for a comprehensive national rare disease registry as a top priority for the post-2020 UK strategy for rare diseases.
The potential of a central database such as ‘RARE Bridge’ could go much further than its ability to collate valuable information from patient registries, patient-reported outcomes, genomic services, and digital health (e.g. from wearable devices). By acting as a screening library of genotype, phenotype and natural history of patients, the database may overcome some of the challenges associated with rare disease research, including difficulties in recruiting a sufficiently large population of patients for clinical trials and indeed could address many of the identified challenges across all of the themes.
We are now working to ensure this hugely valuable outcome does not lose its impact. This final report will be shared with the Minister and we hope, used to feed directly into the National Conversation on Rare Diseases and the continuation of the 2020 UK Rare Disease Strategy.
At CRDN we will continue to use this type of innovative interaction to build events that are impactful, meaningful and succeed in putting the voices of the rare disease community at the fore.
Thank you to all of our sponsors and partners whose continued support allows us to achieve our vision. Missed RARESummit 2019? Catch up on the whole event with our RARESummit 2019 Review.