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,” says Patricia. “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.
“For us, every day is Rare Disease Day,” says Patricia, who is currently writing a book called Diseases without Doctors. “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.”
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.
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/.
For technologies to reflect a diverse set of people, they must be trained on data of all of those people. Find out more here
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.
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.
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 CRDN 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!
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 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.”