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).
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.
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.”
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.
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.
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.
“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 (CRDN), 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 CRDN initiative that provides a safe and welcoming space for children with any rare condition to meet locally for fun, friendship and confidence-building activities.
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 CRDN.
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’.
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.
“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 (CRDN) 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 CRDN 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.”
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, CRDN 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.
Hannah & Nicole, the winners of the RAREsolutions competition 2018 with Jonathan Milner
Enthusiasm, Curiosity, Initiative
Winners of RAREsolutions poster design competition 2018 share their insights for this year’s challenge!
If you take a sprinkle of artistic talent and a splash of passion for medicine and health, you have a winning formula for success! Nicole and Hannah pooled their talents to produce a brilliant entry for our first ever RAREsolutions STEM poster competition, impressing the judges with their creativity and determination for making a difference.
RAREsolutions is a poster competition with a conscience, pushing for change by design. It’s part of the RAREfest20 rare -disease inspired festival and is open to anyone in Years 7-13. All you have to do is watch the RAREsolutions challenge videos, pick the one that inspires you most, and go for it.
As we launch our new and exciting RAREsolutions 2020 STEM competition, let’s hear from the dynamic duo who scooped the prize last time.
Hannah & Nicole share their thoughts about the RAREsolutions design competition
Why did you enter the competition?
Hannah: We found out about the RAREsolutions poster competition in our school bulletin. I was immediately drawn to take part as it really struck a chord with me, having recently learnt about genetics in biology. I have a real passion for medicine and health! I knew instantly I wanted to take part with my friend Nicole, who is really good at art and design. Combining our talents and being able to work collaboratively really appealed to us. It’s not often we get to work as a team!
What inspired your design?
Nicole: The first steps was to decide which challenge we wanted to design a poster for. On the CRDN website there were three different challenges set from people with rare conditions. They asked us to create innovative solutions to help them live more independent lives.
Hannah: The one that really resonated with us came from Eilidh. The quest to make playtime more fun and accessible. Eilidh has KAT6A syndrome, an extremely rare genetic neurodevelopmental disorder. This can impair or alter growth and development of the brain and central nervous system.
What research did you do?
Nicole: We had a few weeks to research the condition, contact Vaila (Eilidh’s Mum), find a solution and design the poster. It was amazing to take part in a project that combined science, research skills and design.
Hannah: RAREsolutions was not dry like the usual essay writing competitions and gave us the change to come up with a real-world solution. Life can throw up all sorts of accessibility challenges for those living with sensory and physical disabilities, but actually they are people just like you and me. They want to live life to the full, but the environment makes that tough.
I’d recommend taking part in this competition to anyone. It not only helps patients with rare diseases live better lives, but also changes your own life!
Winners of the RAREsolution 2018 competition
You presented your winning idea at RAREfest18. How did that feel?
Nicole: We were hugely proud of our achievement but also daunted at the idea of presenting to an audience of genetic experts, having only previously made presentations at school!
Hannah: It really helped having each other for support. We put together a presentation and also produced a tri-fold leaflet. It was a fantastic opportunity to stand up in front of an audience of people from the rare disease community, ranging from genetic scientists to patients and their families. It was an incredible experience!
How has this competition changed your lives?
Nicole: It has really inspired me to find out more about how rare disease affects patients, not only the biology aspect also the social implications and how people can be marginalised. Taking part in the competition gave me more confidence and led me to focus on eugenics for my Year 12 project.
Hannah: On the day itself, we met some great people and made some really useful contacts for the future. I found myself having a conversation with someone from the Stem Cell Institute, which prompted the subject for my Year 12 research project about stem cell treatment and therapies for Type 1 Diabetes.
The RAREfest20 RAREsolutions poster competition is now LIVE!
RAREsolutions poster competition is part of RAREfest20, a vital, vibrant, virtual festival that champions the rare disease community, bringing together the brightest scientific minds, the most innovative tech, the medical pioneers and, of course, the patients, who are as unique as the festival itself.
” Life may not be the party we’d hoped for, but while we’re here we should dance! “
In 2015, in response to an invitation to take part in a charity ball, CRDN took the step to create a small Cambridge based dance group for children with a range of rare conditions as a place where they could express themselves. Little did we know just how powerful this group would become, not only for the young people who take part, but for the whole family. Human connections really are what makes the world go around and our Unique Feet are leading the way.
Since Oct 2017 we have been supported through funding from the People’s Health Trust and Health Lottery and in 2020 by Healx, local drug repurposing company for rare diseases, to build the group to 10 families. Twelve fabulous children and young people strong, we have branched out into all sorts of fun activities including horse riding, cycling, canoeing, yoga, climbing, trips to the seaside and picnics at National Trust parks. We annually go to the Panto and have family meals out allowing our children safe experiences they can share together, sometimes accompanied by extended family and siblings making for a true family affair.
We spoke with a CRDN Trustees and Unique Feet members Sue Berry, Alison Omand-Lewis and Tracey Murray to find out more…
I got involved when Jo Balfour (CRDN Ops Manager) contacted me, knowing my son had a rare genetic condition, with an idea to gather a group of similar children to dance at the SOBI Ball in Cambridge. My son agreed (even though he has huge coordination issues and was the only boy). We became one of the 4 original families involved. The children were all very different but really pulled together with their teachers to shine at their performance in April 2016. The children really got along and enjoyed each other’s company, as did the parents sitting chatting during rehearsals.
It’s been great to see the group grow since 2017 when we received grant support.
Both my son and I have found friendship, understanding and non-judgemental support. We have a like-minded group of families that, although all the children have different needs and strengths, understand the challenges that rare conditions can place on a family. Socialising and having others at the end of a phone allows confidence and self-esteem to be built, or we can just have a chat when it is needed. Eric has been able to try new activities and experience new challenges. Unique Feet has also allowed me to be educated and increase my knowledge about rare diseases and the complexity of how others have to deal with them.
My son is more confident and willing to try things that he would never have dreamt of doing. He is sociable within the group, in his own way, and looks forward to the meetups. He attends the Unique Feet ‘You Can Bike too’ sessions at Milton Country Park. Amazingly someone saw the photos on social media and contacted me……… after discussions they agreed to help fund a trike for Eric! We now regularly cycle as a family, something we were never able to do before which has been life-changing for us.
Now I am helping with organising, coordinating and facilitating family activities for Unique Feet both in the school holidays and during term time. These are usually fortnightly, although during rehearsals for performances it can be daily/weekly. There are also occasions when a family might need different support, for EHCP/education matters or general family support and I’m always happy to help out then too.
Alison and Eric Omand-Lewis
My daughter Eleanor was one of the first group of dancers that formed Unique Feet. The children were highly anxious at the beginning and we struggled to even get them into the room! However, by the end of the first session, a wonderful warm friendship had begun which has continued to blossom. The group is truly inclusive with everyone really having the opportunity to learn how to express themselves within their own abilities.
The big takeaway from this group, however, is the benefit to the whole family. We found the support from other parents an enormous help, especially during Eleanor’s transition to secondary school where we faced a big battle. Having other parents who had been through a similar process, guide us was invaluable.
It is wonderful to watch our young people forming friendships and supporting each other and being able to benefit from friends who see them for who they are and who don’t see the disabilities in one another.
Tracey & Eleanor Murray
We got involved with Unique Feet around 18 months ago after Jo contacted me for probably the 10th time. Originally, I didn’t think the group was for us, but Jo is very persuasive, and we decided to come along to take part in the performance for RAREfest18. This is when we realised what else the group was involved with and all the amazing support it has to offer. My daughter Charlotte has really enjoyed the cycling and horse riding, but it has also been a great opportunity to be involved with other families in the local area.
The benefits go much further than just enjoying the dancing and activities, having that opportunity to connect with other mums and dads and boost moral or get advice is brilliant. When you spend a lot of time battling with schools or medical professionals you can run out of energy and the group have this ability to give you the courage to keep going. It gives you time to work through things and form a plan for moving forward.
There is also great sense of humour and banter and it is important to remind each other we aren’t just mums but are also working people, wives and of all the other things we are and to have that perspective so you don’t get caught up in only your child and their condition all of the time.
It is nice to have the regular and local aspect to it. It can be important to find others that have the same conditions to understand the disease more or its progression, but in reality, these families can be widely spread meaning regular interaction isn’t easy to achieve. This group is not about that. We want to be able to meet up regularly and do things with families local to us who understand our family.
Sue & Charlotte Berry
Now that our People’s Health Trust funding has come to an end, we have been organising fundraising activities and applying for new grants and we will continue to offer activities and days out for the families. As the group has a wide age range, we will be spending time this year finding out what our young people want to achieve and may split the group to allow the older members the opportunity of more independent outings (although an adult will be close by). This could be the theatre/bowling/meals out etc. We feel that this is vital in helping them develop life skills and have the chance to do so in a group they are comfortable with.
More than fun activities and friendship!
Our Unique Feet group has grown to be an impressively empowered group of children, young people and parents. Over the last few years they’ve taken up opportunities to spread the word about rare disease and champion the unmet needs of those affected. Four families have told their story on BBC Look East, three have been featured in the Cambridge Independent newspaper, one appeared on BBC Cambridge Radio at a BBC Children in Need event and others have championed the cause through talking in school assembly and running fundraisers. Mum’s are actively involved in learning and networking by attending our educational events and conferences whilst two have become trustees, one of CRDN and the other of our spin-out organisation the Rare Disease Nurse Network. Allison now co-ordinates the Unique Feet group too. This is community involvement at its best!
Although some of our children are less mature than other teenagers, we are looking at ways that they can experience outings together with a degree of independence. They are such a lovely support for each other and help keep each other out of trouble.
We also hope to be able to expand our educational programme, spreading the voice of rare disease within schools and the community.
I personally would like to be able to advocate for families who have a rare child, when they are in need of help with schooling/applying for an Education Health Care Plan.
One thing is clear that the benefits of Unique Feet go much further than an opportunity for young people to express themselves though dance. The holistic benefits to the wider family are just as important as is the opportunity for life-long friendships between the young people who take part.
Tracey Murray is a trustee and part of the Rare Disease Nurse project. an organisation founded and spun out to independence by CRDN. As a qualified nurse Tracy brings invaluable experience to this project.
Joining the CRDN team as a trustee in July 2019 Sue Berry brings many years of product development for a leading retail brand as her background, supporting the development of our future focus and strategy.
Alison Omand-Lewis is one of the founding members of Unique Feet, now leading the coordination of the group activities. Alison is passionate about supporting families with the challenges of education and health care plans.
In autumn 2017 we were delighted to be funded by a People’s Health Trust grant using money raised by Health Commit through the Health Lottery to help grow and develop our Unique Feet children’s activity group. People’s Health Trust is an independent charity funded by 51 local society lotteries and the money they raise through The Health Lottery and we are honoured to have received their support.
We’ve welcomed new members of all ages over the last few months and have been getting involved in all sorts of fun. The group began by meeting weekly for yoga sessions with Emily, our trusted Unique Feet supporter who has worked with us from it’s first steps in 2016.
So why yoga?
As our poster explains, yoga helps children to develop greater body awareness, improves attention span, supports them to develop muscle tone, flexibility, circulation and lung capacity.
The health benefits are significant but benefits come also in their confidence and they learn new skills and surprise themselves at what they can achieve together. Most of all they have a chance to meet together and have fun!
The better weather has allowed the group to move on to outdoor activities now and they’ve been taking part in the weekly You Can Bike Too project. This is a brilliant award winning, all-ability cycling project delivered at Milton Country Park and the only project of its kind in Cambridge.
There are a wide range of bikes to suit individuals or groups which are great fun to try. We’ve been trying out the colourful array of specially adapted bikes to help those with disabilities to take to their wheels and to support others to build confidence in riding.
Siblings joined us for a Christmas Party, and for bouncing fun at xtreme 360 trampoline park at Easter and there are horse-riding lessons planned for the summer term. So much fun to look forward too!
It’s wonderful to see friendships and community developing amongst our local families living with rare conditions who can often feel isolated. The group is a wide mix of children of different ages and all with different conditions.
We often think of rare diseases in medical terms and it’s easy to lose sight of the children and families at the heart of our work. So, for the recent charity ball hosted by Sobi, the CRDN formed a contemporary dance group – ‘Unique Feet’ – featuring children with rare diseases.
The kids rehearsed together weekly for several months, and over that time a lovely sense of community has emerged. We hope to continue this… stay tuned! (more…)