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.
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.
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 (CRDN).
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 CRDN’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.
“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 CRDN’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.
From the outset five years ago, CRDN 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.
“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’.
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.
The COVID-19 pandemic has altered the lives of just about everyone, especially patients in receiving continued treatment and care. But what does it mean for patients who already have trouble accessing therapies or with finding and engaging with others like them?
The novel coronavirus, and the international response to the pandemic, pose significant and in many cases disproportionate threats to the rare disease community, given the vulnerability of those with chronic health conditions and the additional challenges being presented that affect their ability to weather this storm.
The rare disease community is one already facing significant challenges in obtaining early and accurate diagnoses and in accessing medicines and treatment, and their lives are all too often blighted by poor knowledge and understanding of their condition, leading to feelings of isolation and anxiety. They often have to navigate their way through unclear care pathways to obtain the support they and their families need; and now, with the additional threat of COVID- 19 on their health, the confusion and creeping isolation triggered by lockdown, and the stress placed on health systems, R&D and the pharma industry, the challenges appear more abundant than ever.
In the US, the National Organization for Rare Disorders (NORD)’s recently released COVID- 19 Community Survey Report reveals the far-reaching impact the pandemic is having on rare patients and families. 772 participants responded to the survey conducted by NORD’s research team from I April through 8 April, representing 49 of 50 states and Washington, DC across multiple disease categories.
The findings reflect a community directly affected and overwhelmingly concerned about the COVID-19 crisis. At 98%, almost all respondents were worried about COVID-19 and, it would appear, with due cause. Among the respondents, 95% said their families had been directly impacted due to COVID-19: 74% have had medical appointments cancelled; 59% had been offered a telephone or video call as an alternative to an in-person appointment; 69% were concerned about medication and medical supplies being in short supply; 29% had lost employment temporarily or permanently, and 11% of those job losses resulted in loss of health insurance too.
EURORDIS has released the preliminary findings of its first multi-country survey on how COVTD-19 is affecting people living with a rare disease, concluding that “the pandemic greatly hinders access to care”. They report that 5,000+ rare disease patients and their family members from all EU countries and beyond, representing 993 diseases, responded to the survey carried out via their Rare Barometer Programme. The preliminary results are based on survey responses submitted between 18 and 28 April and very similar themes emerge to those noted in the US.
EURORDIS reports that since the beginning of the COVID- 19 pandemic, nine in 10 rare disease patients have experienced interruptions of the care they receive for their condition and three in 10 perceive that these interruptions of care could definitely (one in 10) or probably (two in 10) be life-threatening. More than half of those awaiting surgery or transplants have seen these interventions cancelled or postponed and 80% have seen their appointments for rehabilitation therapies such as speech and physical therapies – sometimes the only therapies available when treatments are not – postponed or cancelled. Patients who usually receive care in hospitals are experiencing specific difficulties, with almost three in 10 reporting that the hospital or unit that normally provides care for their rare disease ls closed. Half of respondents had participated in online consultations or another form of telemedicine since the start of the pandemic; this is new for two in 10 patients. Almost nine in 10 of those utilising this type of consultation are happy with the experience and that it has been very or fairly helpful. In addition, the survey found that almost six in 10 reports they no longer have access to medical therapies such as infusions, chemotherapy and hormonal treatment at home or in hospital. More than 60% have lost access to diagnosis assessments such as blood or cardiac tests and medical imaging that arc often a vital part of their daily care. Close to seven in 10 have seen their appointments with the general practitioners or specialists cancelled, and almost six in 10 have seen their psychiatry follow-up interrupted.
Rare disease stakeholders from healthcare, patient advocacy groups and the pharma and regulatory industry from across the UK have been sharing their insights into disruption, risks and opportunities presented by COVID-19 in their sectors through a regular Zoom working group facilitated by Cambridge Rare Disease Network, Medics4RareDiseases and Rare Revolution Magazine. The group have identified a number of additional concerns for the rare disease community which will affect early diagnoses, access to research and treatments.
A member of the group flagged that there will be no appointments with clinical geneticists in many areas as these staff have been redeployed, whilst some genetic counsellors may have been doing some appointments by phone, but it is likely they could be redeployed too. It was also raised that face to face healthcare professional rare disease education has also ground to a halt, and this, alongside die lack of genetic testing, raises concerns that timely and accurate diagnosis of rare conditions is further impacted.
Members of the cross-sector group raised concerns about disruption to clinical trials and appraisal of rare disease treatments by NICE with patients in need of new treatment left waiting. At least nine rare disease treatment single technology appraisals and highly specialised technology evaluations are known to be delayed and a number of clinical trials of rare disease drugs on hold. For parents with children needing rapid solutions to degenerative diseases, these delays can mean the difference between life and death.
The rare disease community is familiar with isolation, issues with accessibility, and having to adapt so they are closely watching for opportunities arising from this crisis which may work to their advantage in the longer term. They’re largely welcoming the sudden, rapid uptake of telehealth which could mean less time and money wasted on travelling to appointments. They are watching with interest the adoption of health wearables and technology to monitor health in the home and hopeful that clinical trials may become more accessible if pharma companies adopt more virtual monitoring techniques in the future. They are also expectant that a rise in e-learning for health care professionals in bite-sized chunks will lead to a flurry of rare disease education packages and a more aware and knowledgeable community.
The Cambridge Rare Disease Network provides a window into the current experience of the rare disease community, and we catch up with three previous Pharmafocus contributors to see how the UK lockdown is affecting them.
Rebecca Pender’s daughter Hannah lives with the ultra-rare condition Inv Dup Del 8p: a genetic arrangement that affects just 80 people worldwide.
Rebecca Pender portrait photo
Have you been able to access necessary medicines through your normal routes, or have you seen shortages or other difficulties during this time?
We’ve struggled with getting access to one particular drug: IV Ativan. We normally source through the local pharmacy or hospital pharmacy, but both have had issues in providing medicines. We’ve also had delays with Lamictal, but not as long as with IV Ativan. We’ve also had several diagnostic appointments cancelled with no indication of when they are
likely to be rescheduled. All our appointments have been conducted over the phone except the ones which were cancelled, but I feel these could have been telehealth appointments too.
How are you and Hannah coping with having to stay inside during the lockdown?
Being so isolated from our support network has been difficult, especially as we are shielding for Hannah. The change of routine has been the toughest on the kids, especially for Hannah as with her learning disability she doesn’t understand what’s going on. I am also 35 weeks pregnant, so it’s been so difficult being unable to share the journey with the family. When the lockdown came in, I was actually really glad that rare disease patients were included in the shielding group. It felt like a win as so often in the rare disease community we fight for visibility, and this time we were seen and protected from the outset.
Do you have any concerns about the treatment of rare disease patients during this period?
People in the rare disease community are rightly concerned that they are at the back of the queue for lifesaving and life-prolonging treatments. I’m also concerned at the amount of rare disease patients who are being bullied into signing ‘do not resuscitate’ documents, and how many are being refused lifesaving medications and equipment supplies because of apparent lack of stock. Because so much is unknown with COVID-19, but also unknown with rare diseases, it’s even more of an enigma as to how the two will interact. Our rare disease causes learning disabilities, not an acute illness, so it’s worrying that our rare disease could be used as an excuse to withhold treatment.
Vaila Morrison’s nine-year old daughter Eilidh (Ej) was born with the ultra-rare condition KAT6A.
Unique Feet go horseriding
Have you had difficulty in getting hold of any medications that Eilidh needs since the lockdown began in the UK?
EJ is currently taking a supplement to aid her metabolic function. It’s a drug that has to be prescribed via hospital rather than primary care through a GP, and strangely that’s meant it has – so far! – been easier to access during this time. Normally its a bit of a marathon of phone calls to get the prescription, check the pharmacy has it in stock and then make a trip to visit the hospital outpatient pharmacy. The last batch of three months’ worth was delivered by the hospital pharmacy to our door within 24 hours of calling the consultant’s secretary.
Self-isolation has been trying for everyone, but it must be doubly so for rare disease patients. What has been your experience?
EJ has profound learning disabilities and doesn’t understand the reasons behind staying at home at this time. She obviously misses her friends and the fantastic staff at her school, and is missing out on all the specialist equipment and activities. However, shes a very content and happy person so she’s not been fazed at all by spending more time at home. We are very lucky to have a garden so she can spend a lot of time outdoors to provide a bit of variation, as well as some fresh air and vitamin D. The main challenge for us is balancing the differing needs of everyone in the family. EJ is in the shielding category, and as it’s impossible for us to social distance within the household, that means we are all shielding together.
Have mobile health solutions helped you overcome some of the challenges of getting health advice?
EJ had an annual multi-team review at the beginning of the lockdown phase. This was able to go ahead via phone consultation with us at home and the paediatrician, school teacher,
school nurse and physio at school. This ended up being really useful as we could ask some COVID-19-specific questions about what category we should consider EJ to be in, and they were able to advise us of a SEND-specific helpline they were intending to implement to support families like ours.
Many rare disease patients must be in a similar situation right now. Have you been in touch with other patients or carers during this time? Has it helped to break the isolation?
We’ve been part of SWAN UK since before EJ was diagnosed. We’ve found it to be a fabulous support network for families with children with undiagnosed conditions. It’s mostly via an online forum as the network is national and we are all sprinkled across the country. This has meant the mechanism for staying in touch hasn’t had to adjust on the whole, as we are all used to chatting via a Facebook group. This has been a great source of info on how people are coping and accessing services. We are also members of a super local network of families. Unique Feet is a group for families of children with rare diseases run by the Cambridge Rare Disease Network (CRDN) in Cambridgeshire. We do chat on line, but normally would be meeting up to do a variety of fun activities with the children. CRDN has been brilliant at adjusting to circumstances and have set up zoom yoga sessions and sent out two activity bundles to the children, including postcards for the children to keep in contact with each other. Being able to chat with other parents, locally and nationally, has been so useful for questions about health, staying safe, access to care and also practical things like how people shielding manage to get shopping delivery slots!
I’m sure you share the same concerns as all of us for your personal health and of those close to us, but is there another level of anxiety for rare disease patients when it comes to catching the virus?
We are fortunate that EJ has never had a particular predisposition to chest infections; however, very little is actually known about her rare condition. There are only about 200 cases identified so far worldwide so it’s ultra-rare. Eilidh has had heart patch surgery in the past and there seems to be a metabolic element to her gene change, so there’s always a worry that we don’t know how her body will react to a new disease. The emergence of information about children being affected by inflammatory disease related to COVID-19 is a particular concern. There is a real concern that in the event of an overwhelmed system, any-one with certain age-related “frailties” or an “underlying health condition” is potentially going to be offered palliative care rather than active treatment.
This concern extends to those with learning disabilities. Despite a number of statements from the top level to say that learning disability should NOT be considered as a reason not to treat I can’t help but worry that there’s still an unconscious – sometimes conscious – prejudice against those who don’t fit the ‘normal healthy person’ bracket and an assumption about their quality of life. There’s been quite a number of worrying articles about ‘do not resuscitate’ orders being placed without loved ones’ knowledge; care homes for people with learning disabilities not having access to testing and PPE and figures recently reported by BBC Breakfast about the higher rate of death due to COVID-19 among those with learning disability. As EJ has profound and multiple learning disabilities (PMLD) as part of her genetic condition, its therefore of huge concern to me that if the system is overwhelmed, she might not get access to the same care as a typical child.
Based on your first-hand experience, what do you think needs to be done to address the needs of rare disease patients during this unprecedented time?
As at any time, the healthcare system needs to look beyond the average person and ‘the way we normally do things’ and strive to ensure patient-centred care. Listen to rare patients and their families, who often know as much, if not more, about their particular condition than any health professional. Work with us, and please don’t make assumptions!
By Mike Scialom- firstname.lastname@example.org Published: 14:47, 05 December 2018 | Updated: 14:50, 05 December 2018
Rapt attention from members of the public and researchers at RAREfest Picture: Suzanne Morris/CRDN
The first-ever rare diseases festival took place at the Guildhall this month.
RAREfest proved a huge success – check our print edition for details, with more online content to follow – but was overshadowed by a shocking story of gene-editing abuse which took place in China very recently.
Professor He Jiankui He of the Southern University of Science and Technology in Shenzen initiated a trial using Crispr-Cas9 gene technology to gene-edit healthy embryos which had an HIV-positive father. This was the first recorded instance of gene-editing of embryos which were taken to term. Two girls, Lulu and Nana, were subsequently born with a mutation making them resistant to the virus. It is possible a further embryo or embryos will also be birthed.
Professor He was given a platform to talk about his work at last week’s International Human Genome Editing Summit at the University of Hong Kong. Also at the event was Dr Anna Middleton, Head of Society and Ethics Research at Cambridge’s Wellcome Genome Campus.
The first thing Anna did when she returned from Hong Kong on Friday was attend RAREfest on Saturday, where her planned presentation was adapted to highlight the issues the controversy has raised.
“The Chinese scientist edited the genes to protect against HIV,” Dr Middleton told the Cambridge Independent shortly before her talk. “It’s a completely illegal procedure because he edited and implanted the perfectly normal embryos with the intention of creating the first edited child. The husband had HIV and the mother didn’t, and it was pitched in the consent form as a vaccine against HIV to the parents.
“But they don’t need a vaccine as HIV is in the semen not the sperm, so you can wash the sperm and add it to the egg.” This legitimate HIV treatment would have been enough to ensure any subsequent embryos would not have been born with HIV, says Dr Middleton.
The No Isolation stand at RAREfest, which took place over two days at the Guildhall
She added: “As we don’t know if there are any downstream effects of the editing technology on genes that weren’t intended to be targeted, there is a risk that Mr He has predisposed the twins to other genetic disease. He has offered to pay the medical bills for the girls until they are 18. Implanting an edited embryo is illegal in the UK and he’s been publicly shamed by the scientific and ethics community, but it’s big business – this project appears to have had significant funding even though it appears to be completely unregulated.”
“I feel incredibly shocked,” she Dr Middleton. “What’s our collective moral compass?”
The issue of data sets and how they’re used is vexatious. The commercialisation of genetic services is taking place without prior clarity about who owns the sequenced genome data. Companies who provide genetic testing in the UK, such as 23andme, are actually muddying the water. Though they charge for the service, Dr Middleton points out that “their business model is selling the data on and that’s where I think they are not being explicit.”
UK regulation allows for the creation of embryos (human or human admixed embryo) for research, including for the development of embryonic stem cells, is regulated by the Human Fertilisation and Embryology Authority (HFEA). The collection of adult, placental and other stem cells (including foetal and umbilical stem cells) is regulated by the Human Tissue Authority (HTA).
Under current laws, scientists can grow embryos in the laboratory up to 14 days after which they must be destroyed.
Jonathan Milner at RAREfest Picture: Claire Borley
Dr Middleton says “we need transparent, publicly funded research into embryo development, which includes exploration of gene editing procedures, but at the present time these edited embryos, as per the law, should be destroyed at 14 days and should not be implanted. Scientists need to research how to deliver editing procedures consistently and on target and the medical community needs to understand how and why some embryos implant and others don’t, offering answers to the millions of couples who miscarry pregnancies each year. I support a discussion about a change in the law at some future time point if patients believe that they could benefit from embryo editing techniques, but only when there are no other options and only for serious, potentially life-threatening conditions and never for what would be considered trivial ‘enhancement’ reasons.”
Also at RAREfest was Jonathan Milner, founder and deputy chairman of life sciences firm Abcam.
“There’s all sorts of questions we need to answer,” Dr Milner told the Cambridge Independent. “We shouldn’t do it (genomic engineering) now as we don’t know enough about it. There should be a ban while we work out the ethical implications.”
Genetic services are now available as standard procedure on the NHS.
By Mike Scialom- email@example.com Published: 15:10, 28 September 2019 | Updated: 12:29, 30 September 2019
At the Wellcome Genome Campus conference centre for RAREfest, from left, are Jane Swanson, Alistair Kent, Joanna Segieth, Jo Balfour and David Rose. Picture: Keith Heppell
There was a lot of goodwill – even love – at the Wellcome Genome Campus conference centre for RAREsummit this week.
The breakthrough event for Cambridge families with rare disease offspring occurred late last year, when Cambridge Rare Disease Network (CRDN) – the organisers of this gathering of academics, scientists, investors, entrepreneurs, medics and relevant family network leaders – hosted RAREfest at the Guildhall.
The palpable emotion felt by many families when they realise their children will receive relevant treatment for their rare diseases – there are 1.5million rare disease sufferers in the UK, and 95 per cent of them have no treatment – reflects their relief that they will not be alone in their struggle, and that treatment is on the way. Not for nothing did Jonathan Milner, Abcam’s founder and a CRDN trustee, say in his introductory keynote that the charity “is very close to my heart”.
“Warm thanks go to the sponsors and to Jo Balfour, CRDN’s superstar, who has worked tirelessly and walked through walls to get this event going,” Jonathan told the Wellcome audience. “One thing unites everyone here is that we all want to make a difference to patients’ lives, and this is what motivates and inspires us.
“We now live in a golden age of biology – the rate of discovery means there’s never been a time like it, and new discoveries get through to patients at a faster rate than ever.”
Alastair Kent OBE, a former director of Genetic Alliance UK and the speaker after Jonathan, explained how healthcare arrived in the genomics era.
Alastair timelined the story of medicine from 500,000 years ago to the first inklings of healing in ancient Greece, through the “four humours” of the Middle Ages, and the subsequent discovery of anatomy, germs, antibiotics, DNA and monoclonal antibodies. The healthcare model has altered drastically: in 1995, Alastair said, it cost $2.25billion to sequence the genomes of two microbes. “Today the cost of sequencing your genome is $1,000 and the cost is still falling.”And indeed, we now live in an era when your can get your DNA sequenced on the NHS.
Jonathan Milner during his keynote address at the Wellcome Genome Campus’ conference centre. Picture:Martyn Postle
The upshot of this vast amount of knowledge is that “there are a growing number of therapies which have the potential to be curative rather than treatments” – an astonishing development. And the suggestion that rare diseases can be reversed is, of course, very good news for families. Speaker Carina Thurgood, who outlined her work for The Maddi Foundation which she runs, has a teenage daughter with Spastic Paraplegia Gene 15, or SPG15. “My mission is to find a cure for my daughter’s ultra-rare disease,” she told the audience – and it hasn’t been easy. With doctors in the US and Canada unable to help, Carina found support at Sheffield University, at which point the fundraising began.
“It’s a nice conference and I’ve already met someone who’s studying SPG15,” said a happy Carina.
Another of the speakers was Dr Gemma Chandratillake, education and training lead for the East of England Genomic Medicine Centre and a CRDN trustee.
“RAREsummit19 was great, wasn’t it?” said Gemma of the occasion. “My talk was about a piece of research that we’ve done looking at making genetic test reports easier to understand by non-specialist healthcare professionals and patients.
Baroness Nicola Blackwood at RAREsummit. Picture: Martyn Postle
“It’s important that both clinicians and patients understand what to do next once they receive a genetic test result, both for the patient and for their family. We know that current reports are difficult to understand, so we worked with non-specialist clinicians, patients, and members of the public to design a new template report and then tested it against reports that are currently in use.
“The new reports scored much higher for clarity, subjective comprehension, actionability, and communication efficacy. This work was done as a collaboration between the NHS Genomic Medicine Centre, and the Winton Centre for Risk & Evidence Communication at the University.We recruited participants at a previous CRDN event. In our talk, we interviewed one of the study participants who is a nurse in a polyposis registry who really believes that the project could help with the communication of genetic test results to patients and families.”
The work has just been published in Nature.
From left are Jane Swanson, Alistair Kent OBE, Joanna Segieth, organiser Jo Balfour and David Rose. Picture: Keith Heppell
“It’s all about putting the right people in front of each other at the right time as equals and we clearly heard at RAREsummit that the time is right for patients to become valued partners in the future of rare disease,” said Jo Balfour, a founding member of CRDN and its operations manager. “In true CRDN style, we created a welcoming forum that saw 250 delegates represent more than 60 rare disease patient groups, healthcare settings from across the UK, tech and pharma companies from start-ups through to big players such as Astra Zeneca, GSK, Illumina and Microsoft,scientists, researchers and government officials.
“The buzz during the networking exhibition was so exciting – patient groups being approached by scientists and companies who brought music to their ears, saying, ‘I think we know a way we can help’ – and so the collaborations begin.
“Baroness Nicola Blackwood launched our first hackathon activity with an invitation to join a national debate about the future of rare disease.
“A huge thanks also to Alastair Kent for expertly compering the day, to all of our speakers for their wisdom and passion, to the many exhibitors who shared their work with us, the hackathon facilitators who helped generate 5 great pitches and to our generous sponsors who enabled our charity to deliver such a great event.
Cambridge Rare Disease Network is gearing up for its 4th RAREsummit on September 23 at the Wellcome Genome Campus and excitement is building for what promises to be an innovative event challenging the status quo.
The organisers don’t do things by halves and from the outset have provided a platform for an impressive collection of hard-hitting speakers from the Cambridge Cluster and University alongside European and US experts.
The late Professor Stephen Hawking, Cambridge’s best-known rare disease advocate, shared his own personal story at the inaugural Cambridge Rare Disease Summit. Professor Hawking was diagnosed with motor neuron 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 and Cambridge Rare Disease Summits continue to drill down into how to make this a reality for all 3.5 million Britons affected by rare disease.
With more than 7000 rare diseases already identified, we each face a one in 17 chance of developing one during our lifetime yet, disturbingly, only five per cent of these have an approved treatment.
Recent advances in genetics, genomic medicine and technologies – such as gene-editing and CRISPR – mean that scientists are better placed than ever before to diagnose, treat and potentially cure rare genetic disorders.
Likewise, assistive technologies are improving accessibility and independence and Artificial Intelligence is opening up new opportunities for faster and cheaper therapeutic possibilities.
This year’s RAREsummit will be true to form with a selection of high calibre speakers. Dr Jonathan Milner, co-founder and deputy chairman of Abcam and biotech entrepreneur, will deliver the welcome address.
A keen supporter of CRDN and its ambitions from the outset, he has been involved as a speaker, company sponsor, a significant donor through his foundation The Evolution Education Trust, and most recently joined CRDN’s board of trustees.
Joining Jonathan on stage are Cambridge healthcare pioneers Dr Andy Richards and Dr David Brown, co-founder and chair of rare disease drug-repurposing company Healx. They will share their vision of 21st century digital health where technologies empower patients to manage their own health, find treatments and be connected.
Local pharmaceutical company representatives Steve Rees of AstraZeneca and Neil Dugdale of Sobi, a pioneering Granta Park based orphan drug company, will join leading rare disease patient advocate Dr Nick Sireau, founder of the AKU Society and Findacure to explore industry & patients’ current views and future vision of the drug development process.
Seeking to disrupt the ‘them and us’ relationship dynamic, RAREsummit’s programme will see CEOs of rare disease advocacy groups such as Emily Crossley of Duchene UK and Dr Paul Wicks from PatientLikeMe, share the stage with industry, academia and healthcare experts to showcase drug development, technology and healthcare projects where collaboration with them has prospered.
The aim of the agenda is to discover more about rare diseases and for each delegate to take home a toolkit of strategies that can be applied to their own working relationships and projects.
CRDN is a charity formed in 2015 as a strategic hub aimed at accelerating scientific, clinical and social innovation towards effective health care for patients affected by rare diseases.
Co-founded by Dr Tim Guilliams, CEO of Healx, CRDN has the same mission to transform the lives of rare disease patients.
Guilliams says: “There’s already not enough resources, not enough data yet so many challenges that the only way forward is to collaborate.”
It is this vision which sparked the idea of developing a network complementary to existing organisations such as One Nucleus, Innovation Forum and Cambridge Network – building an active community of individuals, organisations and companies with the collective capacity to unlock the potential within this vibrant hub of biotech and academic excellence for rare disease awareness, scientific progress and cross-sector collaboration.
At RAREsummmit19, the strength of this initiative and the power of a such a network to drive change will be apparent. The day will close with CRDN putting its mission into practice during a cross-sector team challenge – an opportunity for all involved to have their say on the future of the UK Rare Disease Strategy.
• For more details and to book tickets visit https://camraredisease.org/summit-2019/
By Mike Scialom- firstname.lastname@example.org
Published: 21:26, 09 December 2018 | Updated: 21:29, 09 December 2018
UNIQUEfeet at RAREfest
Rebecca Pender came from Glasgow to share her story at the recent RAREfest event, a world-first rare disease conference open to the public.
Her talk at the Guildhall was tremendously moving. In the Q&A, an audience member started crying as she tried to thank Rebecca for sharing with her story in a public place.
“I get strength from people like you,” she said. Another member of the public said joyously: “We’ve found our tribe.”
The theme of sharing stories that were previously out of the public eye was almost universal at RAREfest. Many families have suffered s they sought treatments – 95 per cent of rare diseases have not one single approved drug treatment. Even getting a diagnosis proved an Olympian task for Rebecca’s daughter, Hannah.
Afterwards I asked Rebecca, pictured, about her story.
RAREfest 2018 at the Guidlhall – Rebecca Pender from Glasgow consoles upset audience member
“Yes I made a member of the audience cry and she made me cry right back!” she said. Her daughter Hannah has 8p inverted duplication/deletion syndrome. This rare chromosomal anomaly is characterised clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia/progressive hypertonia and severe orthopedic problems.
But perhaps worse than the disorder was the official response to it. “Hannah was nearly two when she was diagnosed,” explained Rebecca, “but I fought for her when she was born, she had a sacral dimple and an incredible cry, unlike anything I’d ever heard, very high-pitched.
“She was flat-footed and her toes overlapped and folded in on each other. She couldn’t hold her head up at six months. At 14 months she was still not sitting up so she had very, very delayed milestones.
“Nobody wanted to know. I was an over-protective mother [the authorities said], I was making things up. I had Munchausen by proxy, they said – that I was making up mental health problems, which then caused me to have mental health problems.
“I watched There She Goes, on BBC4 by Shaun Pye, that was about a child with a rare disease, David Tennant plays the dad. It was like a common story. Then, when we did get believed, we have to get her DLA (Disability Living Allowance) renewed annually as the condition ‘might change’.
Daniel Zeichner Dame Mary Archer at RAREfest
“It was a battle to get her into a school. We were homeless for 13 months as we were renting from a rogue landlord, we were made homeless 24 hours after my third daughter was born, and the council couldn’t find us somewhere suitable.
“It’s a constant battle to get services, to be included, and challenge people’s perception of her to be included.
“If I can come to events like this and speak publicly it can stop future families from going through what we have had to go through. It’s about changing the narrative, so it’s putting the person at the centre of the care process and getting rid of the hierarchy. Yes doctors have experience, but so do we. We need the children to survive and thrive. Hannah nearly dies as when she was poorly the doctors said it was viral and gave her Calpol. Situations like these need a proactive response not a reaction. If Hannah had had antibiotics it would have cost a lot less than 10 days in hospital – five of them in an emergency ward.”