Action Plan brings relief to millions for Rare Disease Day 2022

by Cambridge Independent | Feb 28, 2022 | Newspaper Articles, Unique Feet

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.

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.”

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.

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.

“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.

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.

‘Heartening’ support from CamRARE to family: life with a rare disease for Tristan, 10

by Cambridge Independent | Mar 27, 2021 | Newspaper Articles, Unique Feet

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 (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.”

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.