Rare Disease Day on February 28 gives those directly affected, their families and medical teams a chance to share the positive stories that are emerging, and add their voices to help find solutions to the challenges ahead.
CamRARE will join the global rare disease community to mark Rare Disease Day on February 28, calling for equitable access to diagnosis, treatment, health and social care, and opportunity. The charity hopes the campaign – supported by the Cambridge Independent – will accelerate the implementation of the UK’s Rare Disease Framework launched in 2021 and achieve earlier, more accurate, and sensitively delivered diagnoses.
Parents from CamRARE’s Unique Feet (UF) group vouch for the difference genetic testing can make. Mum Stacey Buwert said: “We had her genetic results really early; within a few weeks of her being born, we knew there was something genetic going on, but it wasn’t what they thought it would be, so it was definitely good to know.”
Mum Kym Ellis agrees, saying: “I’ve always known that there was something he needed support with, and I’ve had to basically fight the last two years for somebody to see that. We saw the geneticist who was lovely, amazing, and they said, ‘Yep, he’s got a genetic condition. We don’t know what it is, but I can just tell by looking at him and pointing out these features to you that, yes, it will be something genetic’.
“So, we’ve done the first blood test for chromosome microarray and Fragile X, and then we’ll do the whole genome sequencing.”
But how do you diagnose when there are more than 10,000 rare diseases? CamRARE says recognition among healthcare professionals that rare diseases are collectively common and that people living with rare diseases face unique challenges is an excellent place to start. Daring to ‘think rare’ is fundamental to improving the diagnostic odyssey, and CamRARE believes this, coupled with access to new diagnostic tools, can help medics spot rare diseases earlier.
Jo Balfour, managing director of CamRARE. Picture: Keith Heppell
“We are using and introducing new technologies to test patient samples to identify the cause of their rare disease and clinical symptoms,” she says. “We are translating new techniques, tests and analysis methods alongside using the latest understanding of new genes and disorders.
East GLH (Genomic Laboratory Hubs) provides genetic testing for patients in the East Midlands and East Anglia for rare disease and cancer
“We use big databases of genetic data from population and patient cohorts worldwide. These resources help clinical scientists interpret a new genetic variant we have identified in a patient. We ask: ‘Has this genetic variant been seen before in another patient with similar clinical symptoms?’ If the answer is yes, then it is likely that this genetic variant is the cause of the patient’s disorder.
“Introducing new technologies and analysis methods with increased data sharing worldwide helps provide more genetic diagnoses to patients.”
Moving from academia to the NHS, Kate takes part in national discussions to improve and standardise genomic services and improve patient pathways.
“And why do I love doing that? I am in this role to provide the best possible service for patients and their families right now, but also importantly to bring in new technologies, processes, and knowledge into the laboratory to improve testing strategies in the future.”
Rare diseases are complex, chronic disorders which normally affect multiple organ systems and are often life-threatening. 75% of these affect children and this places many challenges on both the child and family as they journey through life. These can range from financial strains, feelings of isolation, physical barriers, or a lack of suitable care. When faced with such uncertainties and added difficulties, being able to access and use time outdoors can be incredibly powerful both mentally and physically, particularly if you can build it into a strong community network.
While there are many disease specific charities providing valuable virtual support networks for those affected by the same condition, geographical barriers can make physical events much more challenging and make it hard to connect with people. Cambridge Rare Disease Network (CamRARE) attempts to create networks to improve the rare disease journey, forming a powerful regional voice to ensure their collective needs are met as well as providing direct support to families living with rare disease in Cambridgeshire.
Jo Balfour is a founding member and Managing Director at CamRARE, who also founded the Unique Feet group. She got in touch with the Alpkit Foundation after support as they transitioned out of the long series of lockdowns. It was an incredibly important time in being able to get people back together who had been shielding for so long, looking to get the children enjoying the outdoors again and the benefits taking part in these activities brings.
“Our Unique Feet group are a wonderful wonderful mix of children aged 2-19 living with different rare diseases and facing challenges including those affecting physical, sensory, neurological and mental health. Some are wheelchair users, some are non verbal and whilst these things can be barrier to accessing activities, they’re determined to give things a go. It’s daunting and lonely living with something others don’t understand, where only 5% of the 8000 different rare conditions have a treatment, but together through UniqueFeetCam they have found their tribe, they’re resilient and give each other strength.”
Looking for support to provide free, accessible, inclusive activities for their group, the Alpkit Foundation was delighted to provide an award of £500. This allowed them to offer assisted horse-riding, nature-based and forest school activities. To get the children back into nature in a safe and responsible way appropriate for those who are extremely medically vulnerable and have been shielding for the best part of a year.
Formed initially as a small group of 4 children meeting regularly for dance practice, Unique Feet soon flourished and now offers a fun range of inclusive outdoor activities from cycling to climbing. It’s a welcoming space to meet for physical and mental wellbeing and friendship building and clearly demonstrates the strength in creating strong bonds across a scattered and isolated community. It has a real impact on the children making long lasting friendships, having that opportunity to be themselves knowing there is support around, whilst also offering important support for the parents and families too.
“There are 20 families involved with Unique Feet. 63 beneficiaries. 20 wonderful children who have a diagnosis of a rare disease or are as yet undiagnosed. We include siblings, who are often young carers, in the activities. Parents also benefit and have their own support network within the group.
These children all have a different rare condition and have different levels of physical and learning disability. Some are non-verbal, others have sensory impairments, several are wheelchair users and some have life limiting conditions. Most are affected in relation to learning and social and experience some medically induced anxiety and trauma which impacts mental health.”It was wonderful to hear back from Jo and to see how getting outdoors is having such a positive impact on their lives.“Over the last year we’ve spent time exploring local parks and gardens, we’ve been horse riding, cycling, climbing, swimming and more. This summer we’re headed to an outdoor activity centre and trying skiing and sledging for the first time!! The sky’s the limit and we work with brilliant providers who ‘get’ and do accessibility well so all our kids can join in”
Action Plan brings relief to millions for Rare Disease Day 2022
England’s first Rare Diseases Action Plan has been published to mark Rare Disease Day 2022 (February 28).
Cambridge Rare Disease Network is a keen participant of Rare Disease Day 2022
New technology and digital tools will support faster diagnosis, and improvements to virtual consultations will make it easier for patients to see multiple specialists at once.
The plan was announced by Health and Social Care Secretary Sajid Javid and includes 16 commitments to further improve care and has been developed in partnership with NHS England and NHS Improvement, the National Institute for Health and Care Excellence, Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council.
Drawing on the UK’s strengths as a global leader in science, the Action Plan includes commitments on research, including an announcement of £40million of new funding to the National Institute for Health Research (NIHR) BioResource, to further their work in characterising and understanding rare diseases.
The Action Plan will also help increase the ability to spot genetic conditions during the screening of newborn babies.
Health and Social Care Secretary Sajid Javid said: “This action plan will speed up diagnoses and care and allow our fantastic workforce to better support patients, by drawing upon the UK’s world-leading science and technology.
“I am committed to levelling up our health system so that everyone regardless of their condition can receive treatment that is tailored to their needs.”
Vaila and Eilidh Morrison at home
There are more than 7,000 rare diseases, affecting an estimated 3.5 million people in the UK. Their complex nature means it is difficult for healthcare professionals to receive training on every condition or for patients to access the relevant specialist. People living with rare diseases, such as muscular dystrophies or Huntington’s disease, can go through multiple appointments and referrals before a diagnosis is made due to the complexity of conditions, making it difficult for individuals and their families to coordinate their care.
Nick Meade, director of policy of Genetic Alliance UK said: “Rare Disease Day is great timing for this step forward. The delivery of this plan despite the challenges of the current environment shows the commitment of the delivery partners to make meaningful progress.
“Our community’s voice has been heard more than ever in the development of this plan. This collaboration has helped us see how well these priorities of diagnosis, awareness, coordination and care can combine to have an impact greater than the sum of their parts. We are excited to move into the implementation phase and to see real improvements for people living with rare conditions.”
To highlight the challenges faced by those with rare diseases on Rare Disease Day, the family of 11 year old Eilidh has shared their remarkable story.
Unique Feet activities provide a safe and welcome space for children with any rare condition
Eilidh was six when she was diagnosed, but it only came about because her parents Vaila and Ewan enrolled her in a UK research study aged two. During Vaila’s pregnancy everything was normal, though after birth some of Eilidh’s reflexes were slower than expected.
There were several other concerns, although many of these issues were understandably dismissed as ones that babies tend to have at that age.
However, with time came more worrying signs. Eilidh had a hole in her heart, and unlike other babies who have the condition, it did not heal so she had an operation when she was aged two.
As she developed, Vaila and Ewan noticed Eilidh was not meeting certain development milestones, and the family were told more work was needed to unravel the mystery.
After relocating out of London and getting established with healthcare services in Cambridgeshire, Eilidh went on to have many hospital appointments and tests, including genetic tests. However, these all seemed to rule out a genetic cause for her symptoms.
When she was two-and-half-years-old the geneticist at Cambridge University Hospitals NHS Foundation Trust looking after the family suggested they consider enrolling in the Deciphering Developmental Delay (DDD) study.
This involved exome sequencing, sequencing the protein-coding part of the genome. The family also reached out to SWAN UK, a dedicated support network for families of those with a genetic condition so rare it often remains undiagnosed.
Its aim is that every family gets the support they need, when they need it, regardless of whether they have a diagnosis or not.
Jo Balfour, managing director of Cambridge Rare Disease Network. Picture: Keith Heppell
“Connecting with other people in a similar situation was empowering,” said Vaila Morrison. “It made us realise that there are many other people who also have been unable to get a diagnosis.”
Vaila added: “The rare disease community is very diverse. Everybody has very different symptoms though the challenges are the same. It’s a stronger community working together than the individual syndromes fighting to be heard.”
However, four years later, the result of the DDD study came through confirming that Eilidh had KAT6A syndrome, an extremely rare genetic neurodevelopmental disorder. It is caused by a genetic variant in the KAT6A gene, that codes for the KAT6A protein.
Armed with new knowledge, the family reached out to the Cambridge Rare Disease Network (CamRARE), which regards itself as a ‘platform for change’ helping to unite patients, advocates, experts and leaders to address the challenges faced by people affected by rare diseases.
And then they were signposted to Unique Feet, a CamRARE initiative that provides a safe and welcoming space for children with any rare condition to meet locally for fun, friendship and confidence-building activities.
Eilidh with her family
Studies like the DDD Study and the 100,000 Genomes Project have paved the way for the introduction of exome sequencing and Whole Genome Sequencing for rare disease diagnosis into routine NHS care.
This means that many other patients and families will gain answers to their diagnostic odysseys more quickly, and more information and support should be available sooner to help care for those affected by rare disease.
Professor Dame Sue Hill, chief scientific officer for England, said: “With genetics playing a role in over 80 per cent of all rare diseases, genomics can be vital in delivering faster and more accurate diagnoses, as well as more effective treatments. The NHS Genomic Medicine Service is therefore key to helping more patients get the right treatment quicker and supporting this new action plan.”
The plan follows the UK Rare Diseases Framework announced last year which set out priorities for all four nations to speed up diagnosis, raise awareness and improve treatment and care.
The devolved administrations will publish their own action plans by the end of 2022.
“Our regional Unique Feet community of children and families affected by rare conditions have helped us to share their stories, as this is their day most of all,” said Jo Balfour, managing director of CamRARE.
Cambridge Rare Disease Network to host ‘pioneering’ RAREsummit21
Five innovators selected to pitch their rare disease challenge solutions to RAREsummit21’s audience have been selected by judges.
Cambridge Rare Disease Network is both hugely respected and hugely popular
The Dragon’s Den-style innovation pitching is one of many components of RAREsummit, which takes place virtually tomorrow (October 7) and is hosted by Cambridge Rare Disease Network (CamRARE).
The annual event, first held in 2015, shines a bright light on life for rare disease sufferers, shares a vision of how to accelerate improved treatments and outcomes for them, and offers information about causes, diagnoses and possible patient pathways now and in future.
The need is urgent: there are more than 7,000 rare diseases globally, and around 3.5 million Britons are rare disease sufferers – yet only five per cent of rare diseases have an approved treatment.
This year, RAREsummit will be held online for the first time, making it more accessible than ever to a global audience and to patient groups, researchers, clinicians, pharma and biotech companies and policy-makers from around the world. More than 50 key opinion leaders will take part in panel discussions, fireside chats, workshops and live pitching sessions, alongside over 20 interactive exhibition stands, short films and posters in an inspirational online gallery. More than 300 people are expected to attend.
“RAREsummit is more than an event – it’s where the magic happens,” said CamRARE’s managing director Jo Balfour. “It’s a powerful movement for change that provides all the right ingredients for a better future, where productive collaborations are nurtured and flourish for real patient impact.
“Patients want to be involved and share their lived experiences to help companies, researchers and healthcare professionals find answers and solutions,” she added.
Jo Balfour, managing director of Cambridge Rare Disease Network. Picture: Keith Heppell
“RAREsummit21 will shine a spotlight on those patients, patient advocacy groups, researchers, healthcare professionals, and companies who are truly listening and leading the way in pioneering partnerships to accelerate change.”
The pitching event, created in partnership with Eastern AHSN, was judged by Louise Jopling, Charles Steward, Sean Richardson, Alastair Kent, Sophie Muir, and Gemma Chandratillake.
The audience will hear from the following five shortlisted organisations about their solutions live, with follow-up questions from CamRARE’s resident dragons.
Asclepius Digital: a paediatric rare disease diagnostic portal from Sundown Solutions
Medwise.ai: provides healthcare professionals with vetted and contextualised knowledge about the treatment and management of rare diseases
NOink by DSST Real world: data capture and information for rare disease patients and their families to improve care
Thriving.ai: tool integrates health and social care, formal and informal care around a thriver, the person being cared for, and is underpinned by machine learning and AI capabilities
Vitaly Collaborative decision making – a cutting-edge tool from Parsek Group for healthcare professionals enhancing how multidisciplinary teams exchange opinions, make decisions and manage patients remotely.
Professor Stephen Hawking shared his own personal story at the inaugural RAREsummit in 2015. Picture: Sir Cam
From the outset five years ago, CamRARE has provided a platform for an impressive collection of hard-hitting speakers from Cambridge, alongside European and US experts. The late and very great Professor Stephen Hawking – Cambridge’s best-known rare disease advocate – shared his own personal story at the inaugural RAREsummit in 2015 at Cambridge Judge Business School.
Professor Hawking was famously diagnosed with the rare motor neurone disease at 21, and was told science had no answers. He went on to live a long and productive life with the support of medical and technological advances. Cambridge Rare Disease summits continue to drill down into how to make this a reality for the 3.5 million Britons affected by rare disease – at a time when life just got even harder, thanks to Covid-19.
“Life has been turned upside down for many of us over the last year, but none more so than the rare disease community,” says Jo. “Our families have been impacted by the added isolation of having to shield their medically vulnerable children, access to routine healthcare became more challenging, diagnoses of rare conditions were delayed, and many clinical trials and research studies were put on hold temporarily. Some closed altogether.”
However, she says the response has been hugely life-affirming.
A rare disease sufferer. Picture: Jordan Mossom
“We came together, albeit virtually, as a community with greater determination than ever before. We have begun to take the positives from the last year too and work out where things can be done better in the future. Can the length of clinical trials for rare diseases be shortened through parallel working as we saw with Covid vaccines? Should telemedicine in healthcare be a permanent option for some patients who currently have to travel to see experts across the country? Could digital signatures and virtual site visits be used to allow patients to give consent to take part in trials and connect with researchers?
“It’s vital we take the learnings of the last year and get back on track for this massively underserved population.”
“Tim Ringrose at 9.40am should be interesting too – he’s a doctor and a tech expert and is using some very cool ways of helping create accessible health info about rare diseases – something that is hugely lacking!”
More about this remarkable event can be found here.
Stuck at home, alienated from the outside world? Resigned to a limited palette of social options, and a worrying sense of life slipping by without you? You couldn’t blame many rare disease sufferers – there are 3.5 million in the UK – for thinking: ‘Welcome to my world’.
CamRARE – Cambridge Rare Disease Network – is a hugely valuable resource for rare disease sufferers, their families, researchers and supporting organisations
But things are looking up: life for many rare disease sufferers has improved vastly in recent years. Humanity’s fast-developing understanding of genetics has ensured not only that new treatments are becoming available, but has also moved the world of rare diseases outside the scope of stigma and ignorance. The internet is enriching lives previously confined to the shadows.
Even during lockdown, there’s been a fresh sense of inclusivity as online communities offer a social life to combat lockdown’s inertia and Tristan, aged 10 and a Russell Silver Syndrome (RSS) sufferer, has a hectic schedule.
The 10-year-old pupil at Orchard Park Community Primary School is loquacious – then again, most 10-year-olds are, and Tristan’s as full of fizz as anyone his age. RSS slows growth both in utero and after birth, resulting in shorter stature. There are challenges, but it seems Tristan has successfully adapted well to our new, Covid-struck, world and looks forward to getting out and about more, post-lockdown.
As a rare disease sufferer he has a more perilous journey to navigate than most, but enjoys the support of his family – mother Celia, father Matt and sister Bethan. The family – Celia is Cambridge-born – lives off Histon Road.
“I have one sister,” Tristan says enthusiastically on a video call. “Bethan. She’s nine. I’m nearly 11.”
Tristan started back at school this month and is happy about seeing his chums again. He has the advantage of being a recipient of an Education and Health Care Plans – EHCP – grant, which means he gets a teacher assigned to him throughout his school day.
“The one-to-one teacher is very nice,” Tristan says. “They’re saints – that’s what my mum says.” Celia laughs.
“They’ve been fantastic,” she duly confirms, “though we’re not sure what happens next because there’s not much provision for highly cognitive children who are disabled – there’s not that many places in Cambridge.”
The EHP grant is expected to continue through to the next stage of Tristan’s schooling, adds Celia.
“If you’re awarded a grant – if you’re very very lucky, which Tristan is – the school gets additional funding. Tristan has full one-to-one teaching accompaniment at school: he gets a full Disability Allowance. It has to be one person – he’s rejected all the rest! Mrs Palmer is absolutely the best.”
Outside school, Tristan keeps himself busy – very busy.
“I’m very into nature and sport,” he says, “and am hoping to go into the cadets. We’re talking about which one to go into.”
Tristan is keen on the Royal Air Force but has also considered the Army.
“My friend goes about in tanks!”
“That’s probably not something you’ll be doing,” suggests Celia wryly.
Tristan Enderle with mum Celia and RARE Bear. Picture: Keith Heppell
“I’ve got two plans,” Tristan continues. “I’m gonna do stuff that will get me into the Army, and sport… I like cricket, soccer, American football and hockey.”
“He wants to have a career in sport while also travelling the world with the Army,” comments Celia, “though we’re not sure how to do that and all the other things he wants to do…”
“I play guitar too,” Tristan chips in. “And I’m learning kung fu, I play football in the cul-de-sac… I do a few clubs. We also have dogs.”
“We like to keep him busy,” Celia notes. Her role is full-time. “Tristan’s caregiving needs are very very high and I couldn’t do it,” she says of the prospect of taking on any additional responsibilities.
The family are big fans of Cambridge’s RAREfest. RAREfest is a biannual event organised by Cambridge Rare Disease Network (CamRARE) which brings together researchers, organisations, rare diseases sufferers and their families. Tristan performed at the inaugural RAREfest in 2018, as part of Unique Feet troupe of dancers with rare conditions – as reported in the Cambridge Independent at the time. The 2020 event took place online in November, and this year CamRARE also organised an event on Rare Disease Day, a global happening on February 28.
“It was very interesting. There’s quizzes and all sorts of things,” says Tristan of the occasion, which was supported by Cambridge-based Congenica, the digital health company enabling genomic medicine, who teamed up with The Bumblebee Children’s Charity and Rare Science to bring one-of-a-kind RARE Bear teddy bears to one-of-a-kind children living with rare diseases across the UK. (Tristan is holding his RARE Bear in the photographs.)
“For me the breakout rooms where you can talk are really good,” adds Celia of the Rare Disease Day format. “It was like being there. There’s some pre-made videos and a stage with live presenters where you can ask them questions. I liked it as normally I can’t go to a RAREfest – it’s hard to sit in the audience with your kids and it ends up being a child-oriented day with lots of breaks for snacks and drinks, so this year was very nice for me. It’s heartening, there was even a girl from America there – you wouldn’t get that at an in-person event.”
Jo Balfour, managing director of Cambridge Rare Disease Network. Picture: Keith Heppell
Tristan also goes to an annual Child Growth Foundation event. The Child Growth Foundation is a national charity which specialises in supporting sufferers of children with growth and endocrine issues.
“That’s really nice as it’s for children in the UK with RSS,” says Celia of the national event which hosts around 20 RSS children (it’s a rare rare disease).
“There’s a lot of us,” adds Tristan. “Everyone goes to a hotel every year.”
Tristan also goes to Birmingham Children’s Hospital once a year for a check-up which includes an MRI scan.
“I really like going to Birmingham because Cambridge is a smaller place,” Tristan remarks. “There’s lots of modern stuff up there, there’s a museum with Spitfires and old boats and really cool technology. You sit in a Spitfire cockpit and fly it, you’ve got a screen right in front of you and you look out and see what’s going on out there.
“When we go to Birmingham we stay the night before in a hotel and do all the stuff we’re not allowed to do at home. We stay at the Rotunda in the Bullring. I’m trying to convince mum we can go to the aquarium because I think I’m brave enough to pick up a starfish now.”
Tristan had a number of operations and procedures as a young child and has been left with considerable anxiety about his body being put under any sort of stress.
“He has a very low pain threshold,” explains Celia. “He’s suffered trauma through having so many medical operations and if he thinks he’s under threat…. even if he falls over he goes into trauma.”
“I have a very strong reaction,” Tristan agrees. “Even if I get pinched it hurts very strongly.”
Apart from the Child Growth Foundation, CamRARE events, the annual hospital visits and trips to see his local consultant in Cambridge twice a year, Tristan has an injection every evening – “people say it’s helpful to my growth”, he says.
And he loves the education he’s receiving.
“I start the day at 9,” he says enthusiastically, “and get on to Zoom. At 10, after I’ve done my maths – say by 10.15 – I get into school. I like to arrive before break so I have don’t have to wait to say hello to my friends. I love PE and art – it depends on what it is but I do like paint. Sometimes you do guided teaching where you can ask questions and that’s really cool because you don’t have to write anything.”
“He’s a very good mathematician,” confirms Celia.
Tristan also has an X-Box which Celia describes as “a lifesaver”.
“They put on the headsets and chat to each other,” she says. “They play games and chat, that’s been a really big thing.
You can’t but help that feel that Tristan is very blessed to have such a wonderful family, though it can’t always be easy.
“The impact of a rare disease on a family’s life is really challenging – life-changing,” Celia confirms.
The reward is to be able to give a child a good start in life, and everyone involved in supporting Tristan deserves praise of the highest order – and we hope to catch up with him and his family later in the year when he’s started at his new school.
Jo Balfour is managing director and a founding member of Cambridge Rare Disease Network (CamRARE), 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.
Jo Balfour
“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 (CamRARE), 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 CamRARE 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
CamRARE 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
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.
Future plans
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 CamRARE into new ventures and to do what we do well in the service of those living with rare conditions.
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.
Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for hischildren’s rare neurological diseases.Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential.
Through his work at the Wellcome Sanger Institute and Congenica, and involvement with the 100,000 Genomes Project, Charlie has been well placed to see the development of genomics over the years and the promises that it will bring to healthcare. However, he says there is always the danger of overpromising the benefits and at the same time, underdelivering.
“I saw this, in particular, with the finishing of the human genome,” says Charlie. “At that time, we thought this would be the holy grail for medicine. Many of the promises we made were not forthcoming, in particular to the pharma industry.
“In reality, finishing the human genome was the first step of what is a long journey.”
Unsurprisingly, in many respects, the human genome turned out to be a lot more complex than was originally thought.
“While there may be just under 20,000 confirmed protein coding genes, it turns out that much of the genome outside of these genes is also important in regulating how the genome is controlled. For example, we know that not all genes are expressed in all tissues and that not all genes are expressed during all developmental stages.”
Most current technology focuses on looking at the bits of the genome that produce proteins – this accounts for roughly 1-2% of the genome, so there’s 98% that we’re not looking at yet because we don’t know what it does.
Dr. Charles Steward
Now, however, the field is changing with respect to genomic medicine.
”This is essential information for the pharma industry to know about,” says Charlie. “If you are developing a drug, for example, for infantile epilepsy, then you need to know if your drug target is expressed in the brain and also during early development.
“Likewise, some patients may have a different version of a gene with respect to people on whom a drug has been tested, which means that drug might not work.”
While the ability to specifically target the genome for therapy for all patients is not yet a reality, the time will come when it will be.
“Already, we know of some types of epilepsy where the underlying genome can inform on specific therapy,” says Charlie.
“For example, people who have epilepsy caused by mutations in the gene SCN1A should not be prescribed sodium channel blockers, as this can make their epilepsy worse. Another example is pyridoxine-dependent epilepsy, which can result in severe developmental regression, caused by mutations in the gene ALDH7A1. Yet, this can be treated simply by administering a type of vitamin B6.
“While it is a very rare form of epilepsy, it is such a cheap and harmless medication that it is often used as a first-line therapy for infants in intensive care who have no genetic diagnosis.
“This is where the future of medicine lies – where we are able to read a patient’s genome and then direct care and therapy based upon that.”
Genomics also means we will be able to stratify patients, based upon their genomic makeup, to make clinical trials much more efficient and targeted.
“Currently, the approach is akin to throwing darts in the dark, where a clinical trial may use the same drug across a whole range of patients, each with a very different genomic makeup, in the hope that a drug will work,” says Charlie.
“For example, this approach was taken with the International Collaborative Infantile Spasms Study (ICISS) clinical trial that my daughter was on, where therapy was administered to patients with no idea of the underlying genome.
“While the clinical trial was successful in stopping seizures in around 72% of patients, which is an amazing result, nearly one third of patients did not respond. This is indicative of patients having different underlying aetiologies.”
In such epilepsy studies, where every seizure causes catastrophic brain malfunctioning, time is of the essence to prevent severe and irreversible developmental regression.
“Had clinicians known that this cohort was not going to respond to the clinical trial, perhaps because of their genomic makeup, a different treatment pathway could have been chosen,” says Charlie.
On one hand, unfortunately this means that many drugs are doomed to failure. On the other hand, many drugs that have been developed so far, but have not made it into the clinic, are worth revisiting, to see if their effectiveness can be improved with better genomic insight.
However, there are still hurdles to overcome to understand completely how a patient’s genome impacts their health.
Enhancing sequencing
Luckily there have been some encouraging developments in sequencing technology in recent years.
Currently, the most common way of looking at genomes in these settings is by using ‘short-read’ technology.
The human genome is too long to be sequenced as one continuous string by current technology – so short-read sequencing breaks DNA into short fragments that are amplified and then sequenced to produce ‘reads’ of around 150 nucleotides in length. Bioinformatic techniques are then used to piece together the reads into a continuous genomic sequence by aligning them to the reference human genome.
“That works really well most of the time,” says Charlie, “but if a patient has a region of the genome that’s deleted, or expanded, it’s very difficult for short-read technology to understand that. If you look at a region that is repeated or deleted, by, for example, 10,000 nucleotides in length and you’ve got a tiny read, you can’t match that to the genome with any confidence.”
To address these issues, scientists and clinicians are starting to look at ‘long-read’ sequencing.
These technologies directly sequence single molecules of DNA in real time, often without the need for amplification. This allows for much lengthier reads.
“Through this, we are able to more clearly resolve large changes in the genome,” says Charlie. “That’s going to be really helpful, because we know that large changes in the human genome are responsible for a lot of developmental disorders such as epilepsy and autism.
“Most current technology actually focuses on looking at the bits of the genome that produce proteins. As mentioned, this accounts for roughly 1-2% of the genome, so there’s 98% that we’re not actually looking at yet because we don’t know what it does.
“It’s likely to contain what we call ‘control regions’ – parts of the genome that control whether a gene is turned on or off. We need to start finding technologies that help us to understand these regions more fully.”
At the same time as trying to understand what those regions do, researchers may also be able to measure to what degree a gene is being expressed.
“If you can see that you have a gene that’s being massively over-expressed or under-expressed in a patient, with respect to a normal person, it may also be an indicator that there’s something wrong,” says Charlie.
“There are lots of technologies already out there, but we still need to wait for them to be included in general clinical practice. It’s still difficult to interpret a lot of these results. From a research point of view, you can make all sorts of guesses and hypotheses, but that can’t really apply in a clinical setting.”
Clearly, there are still challenges in integrating genomic medicine into everyday healthcare, yet great strides are already being made. For example, we are beginning to see genomic medicine being used to treat disorders caused by a single faulty gene, so the ability to replace the gene (or the affected part of the gene) should help.
One such example uses the adeno-associated virus (AAV), a small non-pathogenic virus that lives in humans (the way gut bacteria do) and travels freely around the body, including crossing the blood-brain barrier unimpeded.
Scientists are removing the virus’ DNA and replacing it with a ‘normal’ copy of a ‘faulty’ gene in the specific genetic nervous system disease. The virus then travels and delivers the ‘normal’ gene to the cells making them functional again. This has recently led to an approved therapy for spinal muscular atrophy.
Such technologies have immense potential to bring relief to patients with severe genomic disorders, although there remain ethical concerns about how these techniques could be used.
“The future will only see more of these technologies being embraced and it is clear that the pharma and genomics industry must start talking to each other again in earnest,” Charlie says. “We are entering the age where genomic medicine is no longer a pipe dream but actually becoming a reality.”
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