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

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

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 portrait Beyond the Diagnosis

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

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

Read more…

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

A project from the heart to the heart

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

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

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

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

Amber Beyond the Diagnosis Blog

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

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

​Read more…

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

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

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

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

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

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

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

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

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

You will have a chance to see a specially tailored exhibition at the Cambridge Rare Disease Network’s #RAREsummit21 on 7 October 2021.

“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.”

Find out more about Beyond the Diagnosis at www.beyondthediagnosis.org

Sign up for your Vibrant Vital Virtual #RAREsummit21 tickets for a chance to see the latest Beyond the Diagnosis Virtual Tour here…

UK Government Launches Rare Diseases Framework 2020

UK Government Launches Rare Diseases Framework 2020

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

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

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

1

Helping patients get a final diagnosis faster

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

2

Increasing awareness of rare diseases among healthcare professionals

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

3

Improving coordination of care 

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

4

Improving access to specialist care, treatments and drugs

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


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

Continuing to champion the patient voice;

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

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

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

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

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

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

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

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

Cecily Morrison – Inclusive Design is About Taking a Disability-first Approach

Cecily Morrison – Inclusive Design is About Taking a Disability-first Approach

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 …

Microsoft logo

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.

Read more about how Code Jumper started.

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.

Melita Irving DNA Doc

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

https://blogs.microsoft.com/ai/shrinking-the-data-desert/

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.

Every Cookie is Hope

Every Cookie is Hope

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!

RAREfest saturday speaker Giles Yeo

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.

Dana Perella Cookies for Cures
Dana Perella Cookies for PANS

A Puff of Smoke at RAREfest20: A comic book on being undiagnosed

A Puff of Smoke at RAREfest20: A comic book on being undiagnosed

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

RAREfest saturday speaker Giles Yeo
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.

puff of smoke sarah lippett rarefest20

Dr Melita Irving- The DNA Doc at RAREfest20

Dr Melita Irving- The DNA Doc at RAREfest20

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!

DNA Doctors Melita Irving RAREfest20

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.

Melita Irving DNA Doc

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.

Journey of Hope: Ceridwen Hughes at RAREfest20

Journey of Hope: Ceridwen Hughes at RAREfest20

“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

RAREfest saturday speaker Giles Yeo

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.

RAREfest20 logo

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.

Cambridge Rare Disease Network - Journey of Hope: Ceridwen Hughes at RAREfest20 1

Dr. Giles Yeo “RAREfest20 is a unique event that drives better science”

Dr. Giles Yeo “RAREfest20 is a unique event that drives better science”

Dr Giles Yeo works at the University of Cambridge, studying the genetics of obesity and the mechanisms of how our brain controls food intake. While interested in the general population, Giles says information garnered from studying rare disease patients with severe obesity helps understand the biology which has a broader impact on society and everyone else. We spoke to him ahead of his talk at RAREfest20

< Giles chats about CRDN’s RAREfest20
RAREfest20 logo

Why is RAREfest so important?
The vast majority of conferences I attend are within the academic bubble. You’re talking to other scientists and speaking in jargon. Presenting at an event like RAREfest, you have to think harder about what you’re going to say. Not only are you talking to scientists, but also patients and their families. For me as an academic and a scientist, this is always a gut check. Scientists can be myopic when they’re sitting in the lab moving small volumes of colourless liquids around. This a reminder that at the end of the test tube there is a human being and we’re trying to stop their suffering.

RAREfest brings together the people doing the research with the people suffering from the problem. This provides more perspective and I think drives better science.

Patients affected by rare diseases say they’ve been all but forgotten during the pandemic. Why do you think this is?
The problem with rare diseases is like the name says, they’re rare. These conditions have a huge impact on the individual affected, but on a societal level, very little. When you’re going out and about talking about a condition, your words will influence the patients and the families affected, but for the average person, when you say the condition only affects 1 out of 15,000 people, they don’t feel concerned.

Human beings are inherently selfish because we’re interested in self-preservation. With a limited number of neurons in our brains, we want to worry about what impacts the majority of society rather than what impacts a small proportion of society. This is the problem. This is the value of having Cambridge Rare Disease Network and events surrounding rare disease because while each disease is, by its definition, rare, these events allow you to build critical mass. You can begin to group the conditions together.

For instance, each of the individual genetic conditions that result in severe obesity is going to be vanishingly rare. But once you group them all together, they explain a significant proportion, around 1-2%, of obesity.

What are the greatest challenges facing RD patients?
It’s all about money. How do you convince someone to fund your study of a rare disease? If you’re a charity, how to you get the man on the street to part with his hard-earned bucks? And, how do you persuade a government funder or big charity that this is an important disease to study, compared to the big four – cancer, cardiovascular disease, obesity and diabetes. I’m not trying to compare the severity or the relevance here, but it is a challenge to frame your argument that the study of rare diseases is important.

 

 

 

What would be the biggest step forward for the rare disease community?
That would be to convince society that they should care. I know it sounds callous, but large proportions of society say, ‘I’ve got other problems, I don’t have to worry about you.’

Why should they care? They have to care because while the disease in itself is rare, it is influencing a universal pathway. For example, understanding what influences your body weight opens up greater possibilities and new biology for understanding this problem for the broader community. Studying this as a rare condition may result in the development of a drug that not only helps a rare person but broader society. Understanding rare genetic variations help develop universal pathways that impact everyone in the species.

Tell us what people can expect from your talk at RAREfest20.
I will chart the story about how studying rare diseases of obesity has given us new insight into normal variations of body weight. Why are some people small, medium or large? Our knowledge stems from, largely, the study of rare diseases. I want to convince people that by us understanding a rare condition there is a benefit to broader society. Again, it’s about showing people and policymakers why it’s worth supporting research into rare disease.

Who is your hero?
My PhD supervisor, the Nobel prize winner, Sydney Brenner. I was his last PhD student. He took a chance on me and gave me my love for genetics. He died last year, but his impact on me remains.

Where is your favourite place in the world?
San Francisco. That’s where I did my undergraduate degree. My dad is still there. I love going there for holidays and to see my family.

What is your greatest achievement?
I haven’t achieved it yet! I’d like society to understand that your body weight is not actually a choice but biologically driven. That’s my goal. The world would be a much kinder place.

What is your wish for rare diseases?
For society and funding bodies to understand why it’s worth investing resources to study rare diseases.

Cambridge Rare Disease Network - Dr. Giles Yeo "RAREfest20 is a unique event that drives better science" 2

RAREsolutions 2020: Change by Design – STEM poster Competition for young people

RAREsolutions 2020: Change by Design – STEM poster Competition for young people

Cambridge Rare Disease Network - RAREsolutions 2020: Change by Design - STEM poster Competition for young people 3
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.

 

RAREsolutions20 poster design competition logo

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!

Hannah

Winners of the RAREsolution 2018 competition

You presented your winning idea at RAREfest18. How did that feel?

Nicole: We were hugely proud of our achievement but also daunted at the idea of presenting to an audience of genetic experts, having only previously made presentations at school!

Hannah: It really helped having each other for support. We put together a presentation and also produced a tri-fold leaflet. It was a fantastic opportunity to stand up in front of an audience of people from the rare disease community, ranging from genetic scientists to patients and their families. It was an incredible experience!

How has this competition changed your lives?

Nicole: It has really inspired me to find out more about how rare disease affects patients, not only the biology aspect also the social implications and how people can be marginalised. Taking part in the competition gave me more confidence and led me to focus on eugenics for my Year 12 project.

Hannah: On the day itself, we met some great people and made some really useful contacts for the future. I found myself having a conversation with someone from the Stem Cell Institute, which prompted the subject for my Year 12 research project about stem cell treatment and therapies for Type 1 Diabetes.

The RAREfest20 RAREsolutions poster competition is now LIVE!

RAREfest20 logo

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.

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

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

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

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)

Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 5

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?

 

Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 6
Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 7

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. 

 

FUNDRAISING ONLINE

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

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

Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 8

The Hackathon Challenge: Two hours, 252 opinions, one priority

The Hackathon Challenge: Two hours, 252 opinions, one priority

Too many cooks or the perfect recipe for success?

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

Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 9

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.

Jo Balfour

Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 10
Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 11

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 full Hackathon Report created pro-bono by Cambridge based Med Comms company Costello Medical.

Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 12

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

 

Winning priority

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.

RARESummit 2019 – Patients as partners

RARESummit 2019 – Patients as partners

Wellcome Genome Campus hosts CRDN RARESummit 19

PASSION LED US HERE 
A crisp, bright September morning in the calming woodland setting of the Wellcome Genome Campus, Cambridge welcomed a chattering, excited collection of rare disease stakeholders from across the UK and Europe for the long anticipated CRDN RAREsummit19. 

For the team at CRDN, September 23rd was the culmination of a busy year of planning and creating,  a process  driven by a passion to move towards a world  where rare disease is at the top of the mainstream agenda and patient are involved as partners in the many design and development processes which impact on their lives. RARESummit19 brought together patients, patient advocacy groups, researchers, health care professionals, tech and pharmaceutical industries,  all leading the way in pioneering partnerships to accelerate change. This year’s venue, the prestigious Wellcome Genome Campus, was a move from our central Cambridge location and a fitting new venue for RARESummit19. We needed more space to cater for a growing number of  attendees – a 58% increase on our inaugural summit of 2015, a brighter and more welcoming exhibition space to showcase more organisations and companies and better accessibility features which sometimes only a modern setting can bring. Home to some of the world’s foremost institutes and organisations in genomics and computational biology, WGC is committed to delivering life-changing science and we felt was the perfect location to make progress in rare diseases.  

Delegate feedback on this change in location was encouragingly positive “Absolutely superb venue and facilities, plenty of room for exhibitors, delegate interaction in breakout sessions and of course, first class auditorium and AV – so important to clearly hear and see every speaker”. But of course, that doesn’t mean we’ll rest on our laurels and we appreciate the feedback about tweaks we could make within the venue to improve things.

We welcomed a number of returning exhibitors and some who were exhibiting for the very first time. The quality and wealth of information, education and support was outstanding – a real testament to the work being done day in and day out by  passionate stakeholders within the rare disease field.

It’s always a pleasure to see representatives from all stakeholder groups in attendance. Diversity in attendance is vital to the success of collaborative and open discussions. The buzz over lunch was testament to the great networking taking place and audience participation was at its highest ever via our event technology Glisser. 199 people logged in to download slides on their devices, ask questions and respond to polls. An astonishing 155 questions came flooding in and 1227 votes were placed during polls.  Thank you to all who attended and contributed so meaningfully in so many different ways. 

MORNING SESSION: Patients as partners in searching for treatments and cures 

Patient engagement and partnership is crucial in the development of drugs and products for the bio- pharmaceutical industry. There has been a move towards a more patient-centric approach by industry over the last few years to varying degrees of success. During the morning session we wanted to shine a light on those relationships that were leading the way and discuss what the future might hold for rare disease patient collaborations.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 13
Dr. Jonathan Milner
© CRDN 2019

Opening remarks

 Dr. Jonathan Milner, CRDN Trustee, Abcam founder and biotech entrepreneur opened the summit and set the scene for an “exciting day ahead”. Dr Milner praised the wealth of expertise that had come together in one room and stated, “it is the motivation of making a difference to patients which unites us.” With the enormous rate of scientific progress and patients taking their health care into their own hands it is an exciting time for genomics and Dr Milner impressed on the audience that for CRDN, an important part of their work was to incubate networks to allow for meaningful collaborations.  

Keynote Speaker

Alastair Kent, OBE presented  ‘From the margins to the centre: A personal reflection on progress for rare disease patients and families’, walking us through the history of scientific progress to demonstrate the speed at which science has advanced rapidly over the last 25 years. He highlighted the 100,00-genome project as a “research milestone” and provided this poignant quote by William Harvey to demonstrate how “rare diseases provide key insights into how our bodies work.”

“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by the careful investigation of cases of rarer forms of disease.”  William Harvey.

Rare diseases provide key insights into the way our bodies work.

William Harvey

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 14
Alastair Kent
© CRDN 2019

Panel Discussion
No patient left behind, patient group partnering

Panellists representing a wide range of rare disease patient advocacy groups provided valuable insight into disruptive innovations and the importance of including patient voices at every step of the drug development journey.

Dr Ana Mingorance (CDO Lou Lou Foundation) gave a brilliant visual, accessible whistle-stop tour of the drug development process emphasising the importance of patient groups in this. Charity leaders then shared their successes in working within this process, and the barriers they faced. Carina Thurgood (Co-Founder of Maddi Foundation) battled against the isolation experienced when her daughter was diagnosed with SPG15 and was the only known case in the UK. She has since partnered with a research team at Sheffield Institute for Translational Neuroscience and raised thousands through public appeals and TV appearances to fund their research into a gene therapy. Next steps are to develop a natural history study.

 Allison Watson (Co-Founder of Ring 20 Research) described the challenges she faced finding a large enough cohort when working with an ultra-rare disease. She emphasised the importance of becoming a team player and how the voice of Ring20 has been raised by being involved in the ERN for rare epilepsies and being an EPAG rep. Tanya Collin-Histed (CEO at International Gaucher Disease) inspired the audience with their work ensuring that no Gaucher patient is left behind through their international efforts to support patients across the globe, their international registry development and willingness to embrace wearable health tech to gather much needed data.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 15
Dr. Paul Wicks
© CRDN 2019
Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 16
Dr. Nick Sireau
© CRDN 2019

Moderated Discussion
Disruptive technologies  

Dr Tim Gulliams (Founder of CRDN, and CEO & Co-Founder of Healx), Dr Andy Richards (Digital Health Entrepreneur), Dr David Brown (Co-Founder and Chief Scientific Officer at Healx), Elin Haf Davies (CEO at Aparito) and Dr Pete Chan (Head of Research at Raremark).

Here the importance of technology was discussed including how the internet allows patients and science to connect more readily than before and how Google has been an agent for empowerment. Their discussion covered wearable technologies and their role in collecting “real time” real world data and how it is essential to listen to patients and families in order to document real world evidence beyond the consultation room. The panel discussed the pros of using technology to do the “heavy lifting” in data sorting to relieve the current burden from Doctors and nurses and improve outcomes for the rare community.

The Rare Summit was once again a great opportunity for patients, industry, academia and clinicians to come together to hammer out new ways of developing treatments for rare diseases.

Dr. Nick Sireau

CEO and Chair, AKU Society

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 17
Elin Haf Davies
© CRDN 2019

The Google and Genomics are two technologies that have changed the understanding and opportunities available to people living with rare diseases. Moving forward with rapidly changing innovation we need to make sure that just because “we can” doesn’t mean “we should”. Ethics and patients, and not technology should drive what and how we do next.

Elin Haf Davies

Founder and CEO, Aparito

Moderated Discussion
Disruptive Innovation and Transformation – Patients at the heart of the drug development process

Dr Joanna Segieth (Takeda), Professor Chas Bountra (Uni of Oxford), Steve Rees AstraZeneca), Dr Daniel O’Connor (MHRA), Neil Dugdale (SOBI), Thomas Ogorka ( Orphan Reach) and Dr Nick Sireau (AKU Society).

This was a lively debate on the importance of working with patient groups and of open and transparent collaboration and working practises within the pharma industry.

Questions flooded in from delegates for this talk with the most upvoted question being “How do we get regulators, researchers and industry to work together to agree standardised endpoints that can be measured remotely?” followed closely by “Having worked bridging pharma with patients for 25 years, I’ve never seen Pharma behave poorly towards patients but I’ve seen ‘big’ patient orgs reject working with Pharma. Can we eradicate Pharma as the ‘panto villain’ and rewrite the collaboration story?” and “Is it only about the drugs? What about life science companies ‘developing’ health services for people in parallel to drug development?” If you were at the summit, the film of this discussion will be available to you soon to re-listen to the debate and we’ll be circulating some of the many unanswered questions for people to continue the discussion and share ideas.

Through partnerships, we hope that together we can build a better future with medicines that make a real difference to patients.

Dr. Joanna Segieth

Biosynetix Ltd, Rare Drug Development Solutions

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 18
Dr. Joanna Segieth
© CRDN 2019

AFTERNOON SESSION: Patients as co-designers of technology and care 

Shining a light on some of the successful patient partnerships and collaborations that are making improvements in technology design, personalised care and clinical settings which improve accessibility, symptoms and lived experiences.

Short Talk
Co-creating genetic reports that are understood by
non-specialists

Dr Gabriel Recchia (Research Associate, Winton Centre for Risk and Evidence Communication, University of Cambridge), Dr Gemma Chandratillake (E & T Lead at the East Midlands & East of England Genomic Laboratory Hub) and Menna Hawkins (Polyposis Nurse Specialist).

This team have been working on a collaborative project with patients to redesign genetic reports and the way they are presented to patients to ensure they are patient friendly, thus allowing greater understanding from patients and families of their own genetic circumstances. 

Gemma asked the audience how useful a genetic report would be to them as a patient – 94% answered reasonably to very important showing a clear need for a more accessible design.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 19
Menna Hawkins
© CRDN 2019
Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 20

RARESummit demonstrated the power of patient-centred approaches [in technology, service-design, research, and drug development] to move things forward for those affected by rare disease

Dr Gemma Chandratillake

Education and Training Lead, East Midlands & East of England Genomic Laboratory Hub

CRDN Trustees, Dr. Sarah Leiter & Dr. Gemma Chandratillake
© CRDN 2019

Short Talk 
Patients as partners in assistive technology design – Collaboration and customisation is the key to success

Dr. Cecily Morrison and Dr. Sarah Leiter presented the result of their collaboration to our audience. Using assistive technology, they have created a new educational computer programming system for tactile learners. It was fascinating to see how Sarah’s lived experience of visual impairment gave the researchers a unique insight into the true needs of end users with low vision. 100% of the audience responded to the live poll asking if they felt end users should be included in the design yet only 34% had actually had that opportunity. Of those who had, 85% had a good experience. Cecily shared the inclusive design principles they use at Microsoft Research – recognise exclusion, solve for one,  extend to many, learn from diversity. 

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 21
Laurence Wollard
© CRDN 2019

Short Talk
“Peer-Led to get ahead!” – Developing an education and self-management programme for and with young people affected by haemophilia

Laurence Woollard delivered a passionate presentation of his journey with haemophilia highlighting the lack of support when transitioning between paediatric and adult services and the challenge of becoming responsible for your own health care at a time of significant physical change. Laurence shared his belief that early intervention with peer led programmes could be the key to tackling this growing problem.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 22
Baroness Nicola Blackwood at RAREsummit19
© CRDN 2019

What matters to you?
What matters most?
We need a national debate on rare diseases

We were delighted to welcome the UK’s Minister for Innovation in Health, Baroness Nicola Blackwood, a passionate are disease advocate and the minister leading on the ‘National Conversation’ which will gather the views of all stakeholders to set the priorities for the UK Rare Disease Strategy 2020 framework. The Minister delivered a powerful and heartfelt talk drawing on her on experience of the diagnostic odyssey before being diagnosed with Ehlers Danlos Syndrome. Baroness Blackwood introduced the Hackathon Challenge, a cross sector team activity brainstorming their priorities for the new Strategy, inviting people to share their views. 

 

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 23
Hackathon teams at RAREsummit19
© CRDN 2019

the RAREsummit hackathon

The final session of the day saw cross-sector teams thrash out ideas on problem areas in rare disease such as diagnosis, care coordination, research acceleration, early access and reimbursement and patient empowerment. Discussions were vibrant ad filled with knowledge and passion  culminating in five winning ideas being pitched to the whole audience. We were impressed with the far-reaching ideas the teams came up with and have gathered all of these, alongside all other suggestions made,  and will be presenting these as a report to the Minster in early December. Watch this space. … . 

 

Networking and Takeaways

As with all our events we see huge value in networking and we hope attendees found plenty of opportunities to  build on  established relationships and that doors were opened to new connections through this event. The rare disease community is a powerful one  and CRDN really felt this during this event.
While it by no means dominated the event the inevitable topic of Brexit rose its head and it was clear to see that this is already impacting our health service with shortages in health care professionals and a reduction in overseas talent both in health care and research applying to work here in the UK. Open collaboration was the call from the day and something patient groups want to see improve across industries.

A huge thank you to all who attended and to our sponsors, speaker and exhibitors!