Rare diseases are complex, chronic disorders which normally affect multiple organ systems and are often life-threatening. 75% of these affect children and this places many challenges on both the child and family as they journey through life. These can range from financial strains, feelings of isolation, physical barriers, or a lack of suitable care. When faced with such uncertainties and added difficulties, being able to access and use time outdoors can be incredibly powerful both mentally and physically, particularly if you can build it into a strong community network.
While there are many disease specific charities providing valuable virtual support networks for those affected by the same condition, geographical barriers can make physical events much more challenging and make it hard to connect with people. Cambridge Rare Disease Network (CamRARE) attempts to create networks to improve the rare disease journey, forming a powerful regional voice to ensure their collective needs are met as well as providing direct support to families living with rare disease in Cambridgeshire.
Jo Balfour is a founding member and Managing Director at CamRARE, who also founded the Unique Feet group. She got in touch with the Alpkit Foundation after support as they transitioned out of the long series of lockdowns. It was an incredibly important time in being able to get people back together who had been shielding for so long, looking to get the children enjoying the outdoors again and the benefits taking part in these activities brings.
“Our Unique Feet group are a wonderful wonderful mix of children aged 2-19 living with different rare diseases and facing challenges including those affecting physical, sensory, neurological and mental health. Some are wheelchair users, some are non verbal and whilst these things can be barrier to accessing activities, they’re determined to give things a go. It’s daunting and lonely living with something others don’t understand, where only 5% of the 8000 different rare conditions have a treatment, but together through UniqueFeetCam they have found their tribe, they’re resilient and give each other strength.”
Looking for support to provide free, accessible, inclusive activities for their group, the Alpkit Foundation was delighted to provide an award of £500. This allowed them to offer assisted horse-riding, nature-based and forest school activities. To get the children back into nature in a safe and responsible way appropriate for those who are extremely medically vulnerable and have been shielding for the best part of a year.
Formed initially as a small group of 4 children meeting regularly for dance practice, Unique Feet soon flourished and now offers a fun range of inclusive outdoor activities from cycling to climbing. It’s a welcoming space to meet for physical and mental wellbeing and friendship building and clearly demonstrates the strength in creating strong bonds across a scattered and isolated community. It has a real impact on the children making long lasting friendships, having that opportunity to be themselves knowing there is support around, whilst also offering important support for the parents and families too.
“There are 20 families involved with Unique Feet. 63 beneficiaries. 20 wonderful children who have a diagnosis of a rare disease or are as yet undiagnosed. We include siblings, who are often young carers, in the activities. Parents also benefit and have their own support network within the group.
These children all have a different rare condition and have different levels of physical and learning disability. Some are non-verbal, others have sensory impairments, several are wheelchair users and some have life limiting conditions. Most are affected in relation to learning and social and experience some medically induced anxiety and trauma which impacts mental health.”It was wonderful to hear back from Jo and to see how getting outdoors is having such a positive impact on their lives.“Over the last year we’ve spent time exploring local parks and gardens, we’ve been horse riding, cycling, climbing, swimming and more. This summer we’re headed to an outdoor activity centre and trying skiing and sledging for the first time!! The sky’s the limit and we work with brilliant providers who ‘get’ and do accessibility well so all our kids can join in”
Jo Balfour is managing director and a founding member of Cambridge Rare Disease Network (CamRARE), a charity that brings together stakeholders from research, industry, business, healthcare and patient advocacy groups making a real difference in the lives of people living with rare diseases. Jo manages the overall operations of the charity, including their diverse events programme – RAREfest and RAREsummit, networking and educational events. She has 25 years’ of previous experience in secondary teaching, specialising in the field of special educational needs and children in care.
Jo Balfour
“Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.”
Getting into teaching children with special educational needs and disabilities
Following a baptism of fire in an all boy’s comprehensive school in Liverpool, I moved to London. Teaching there was a turbulent and life-changing time working in a vibrant but challenging inner city school. It was here that my path into specials needs education was carved.
I went on to manage the special educational needs and disabilities (SEND) department in schools in London and Cambridgeshire before becoming an advisory teacher for children in care in 2003.
My move into special educational needs teaching was within a mainstream school environment. I worked with many young people who struggled with this environment and was inspired by the specialist teachers I worked alongside in London who were able to differentiate, be adaptable, empathetic and creative to find ways of engaging all young people, irrespective of their learning or physical challenges.
I wanted to be able to help all young people find their place in the world and take part fully in a way that worked for them. Often it is the world around the child that is the barrier to them being fully enabled.
In 2015 I became a founding member of the Cambridge Rare Disease Network (CamRARE), a passionate group of people intent on pulling together the disparate parts of an emerging rare disease research and therapeutic community within Cambridge’s science parks, the Biomedical Campus at Addenbrookes and the universities.
I was part of a team who held the first CamRARE summit at Cambridge Judge Business School where we packed the room with experts and the curious to hear from rare disease pioneers from around the world.
Over the following five years I gradually devoted more time to the charity, creating and delivering their diverse events programme and establishing the UK’s first regional children and family’s group for those affected by any rare disease, Unique Feet. I took up the role of managing director of the charity a year ago following the retirement of our CEO, the inspiring Kay Parkinson, who lost both of her children to Alström Syndrome.
Supporting those with rare diseases
CamRARE has three main areas of focus: raising awareness; promoting cross-sector collaboration; and supporting families.
To raise awareness and promote collaboration, we have developed a diverse events programme including our RAREsummit and Companies Forum which cater for the key stakeholders in rare diseases – the patients, patients advocacy groups, healthcare professionals, established and start-up pharmaceutical and biotech companies, researchers and policy-makers.
These events showcase emerging science, technology and advocacy and provide interactive opportunities for debate, networking and nurturing alliances.
We also deliver collaborative events with other organisations to reach audiences that are vital to making a difference, but more difficult to engage, and we take part in and deliver a broad range of public-friendly events to make sure rare disease is firmly embedded in more mainstream agendas.
Our Unique Feet community group is at the heart of all we do. This is a flourishing community of families affected by a wide range of rare conditions. Many will never meet another person with the same disease and their rare disease journey can be a lonely and torturous one, often plagued by the lack of a diagnosis, misdiagnosis, few available treatments and support.
We support the group to do fun activities together which are accessible, whatever their learning or physical needs. They have so many similar experiences, irrespective of their condition that they really feel they have found their tribe. The families are a passionate collective voice for rare disease in our community, speaking at events, engaging with the media, serving as trustees and advocating whenever they can.
Creative thinking, inspiring and cajoling, forensic planning, juggling and management
I rarely have two days the same and couldn’t begin to list the vast range of roles I undertake and tasks I do.
A significant part of my time is spent creating and delivering events of some description. This generally follows a linear path of creative thinking, inspiring and cajoling, forensic planning, juggling and management. We pride ourselves on being innovative and tackling problems in ways that others aren’t, on a shoestring, with a tiny core team.
The inspiring and cajoling aspect of my work is essential to persuade the right people to take part as speakers, exhibitors and volunteers, to engage experts and companies to help us with aspects of the work pro-bono, to encourage sponsors to fund our events and to inspire people to attend. I spend a lot of time building relationships with others and making them feel part of the team.
The forensic planning involves everything from developing social media schedules to managing budgets, creating marketing plans and maintaining immaculate logistics to ensure the events run smoothly. And management is a case of keeping my virtual team motivated, inspired and in tune and time with each other whilst keeping tabs on an army of volunteers.
I also take time to engage with our Unique Feet group whenever I can and help with the planning of their activities and applying for grants to fund these.
More recently our connections have been virtually through our WhatsApp group, socially distanced visits to a beautiful garden that has opened just for us, as well as regular Zoom activities including yoga and wine bar night! We’ve just started creating a virtual dance performance for our upcoming event RAREfest20 so I’m turning my hand to some filming and editing too.
It’s important to not be afraid of turning your hand to anything that’s needed in a small charity. It’s incredible just how much you can learn to do if you’re prepared to give it a go.
#RAREfest20
RAREfest20 is very much a public-facing event, a full-day festival featuring fascinating talks, a gallery of art, patient journey posters and film, some games and challenges and interactive exhibits showcasing cool science, visionary technology, and pioneering organisations improving lives and bringing hope to those affected by rare diseases.
The event is free and there is content for children and families, the experts and the curious. Everyone’s welcome!
Despite our plans to hold this event at the historic Guildhall in Cambridge, we’ve found an all singing all dancing virtual platform to try and emulate that festival feel. The aim of the festival is to kindle curiosity about rare disease, to educate the public and help dispel myths.
In 2018 we had 1000 attendees over two days and this year we hope to reach an even wider and more diverse audience from around the world.
The challenges people with rare diseases need to face
Those living with rare diseases were already struggling with delayed diagnosis, few treatments and uncertain care pathways. We call them ‘rare’ because each disease, individually, often affects only a few people.
However, there are more than 8,000 rare diseases, probably more as many remain undiagnosed their entire lives, so are collectively common. With 1 in 17 people affected, around 3.5 million in the UK and 350 million people worldwide, they have a global prevalence similar to asthma.
But the small numbers affected by each disease mean they struggle to attract attention, funding for research and interest from pharma companies. Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.
Many who rely on carers coming into their homes or on external support such as physiotherapy have seen their services and support networks halted. For those taking part in clinical trials and those running them, the inability to travel to and visit trial centres or recruit patients or redeployment of their teams, has led to trials being paused. Even orphan drugs awaiting approval from regulators have been deprioritised.
Many families were directed to shield by the government and have continued to do so leaving them isolated and disconnected.
Keeping the community connected
We took all of our community activities online as soon as lockdown began providing yoga and catch up sessions to keep families connected. Our WhatsApp group chat became a great resource where mums shared experiences, ideas and tactics to get through shielding. The camaraderie was wonderful!
We received some COVID-19 emergency funding to support this and to enable us to make up and deliver activity bundles to each family once a month. We helped some to get online shopping slots and delivered shopping to others. It was a great team effort and I got as much from the community as they got from us.
During April I was fortunate to work with a team of six Cambridge University PhD students and we used our lockdown time wisely to undertake a five-year impact review and report for Unique Feet. The students were incredible, interviewing every family via Zoom and creating a beautiful testament to the success of the group.
This multi-stakeholder coalition of UK-based experts involved in rare disease across different sectors – from patient advocacy professionals, data-managers, academics, healthcare and industry.
We are united in our goal to bring benefit by exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic in order to plan for a better response to future crises and improve the rare disease patient journey post COVID-19.
ARDEnt hopes to illuminate examples of creative adaptability and best practice which could be utilised more widely in the future. Findings and recommendations from ARDEnt’s Making the Unseen Seen project will be delivered as a report in order to influence the UK Rare Disease Strategy 2020 creation and implementation.
Future plans
RAREfest20 is our next major activity but this will be closely followed by our first foray into speed-dating. As part of our Companies Forum initiative, we’ll be hosting a partnering event between our forum pharma and biotech members and a selection of patient groups to facilitate better patient engagement in the drug development process.
We’ll be moving on in 2021 to the creation of our next RAREsummit and have plans to expand our community support programme by partnering with another charity called Same but Different who have been piloting a Rare Navigator programme, providing a caseworker for families affected by rare diseases.
We plan to hold some new joint events with others including a collaboration with the Eastern Academic Health Science Network to help spark innovation in solving the problems of rare diseases identified by patients themselves.
We hope to see the future development of ARDEnt as a truly collaborative project and to use this as a vehicle to hold devolved governments to account in the development and implementation of the UK Rare Disease Strategy due to be published at the end of 2020.
I plan to continue to lead CamRARE into new ventures and to do what we do well in the service of those living with rare conditions.
Contrary to the isolation of lockdown, a vibrant and vital new collaboration emerged. Action for Rare Disease Empowerment (ARDEnt) is a cross-sector
coalition of 30 UK-based experts involved in rare diseases.
Concerned at the impact of COVID-19 on those affected by rare diseases, three leaders replaced isolation with collaboration. The ARDEnt team was assembled by Dr Lucy McKay – CEO of Medics4RareDiseases, Jo Balfour – Managing Director of Cambridge Rare Disease Network and Rebecca Stewart – CEO of Rare Revolution Magazine, building an expert cross sector group; from patient advocacy professionals, data-managers, academics, healthcare and industry.
ARDEnt is united in their goal to bring benefit. By exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic, they hope to plan for a better response to future crises and improve the rare disease patient journey, post COVID-19. The team’s investigations illuminate examples of creative adaptability that could be utilised more widely in future. A report outlining findings and recommendations from ARDEnt’s ‘Making the Unseen Seen’ project will be shared with government in hope of influencing the UK Rare Disease Strategy 2020 creation and implementation.
Prolonging the ‘diagnostic odyssey’
Rare disease diagnosis is long and arduous, averaging over five years. Primary care’s one-problem-at-a-time and secondary care’s one-body-system-at-a-time approaches are rarely compatible with these complex diseases. Patients are bounced in a game of medical ping-pong between specialists until a someone looks holistically and takes charge.
75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday.
With health services being stripped back as a response to the pandemic, the former status quo will potentially be more desirable than the ‘new normal’ for rare disease diagnosis. ARDEnt is examining how the pandemic has exacerbated the problem of diagnostic delay. Something we can ill afford when ~75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday. However, opportunities have also opened up because of the pandemic, such as reduced communication barriers between specialties and more information sharing. ARDEnt wants to harness these to change the outlook for rare diagnosis.
Confusion, cancellation, and silver linings for coordination of care
For patients with rare diseases, the pandemic brought anxious waits for confirmation of their risk level and shielding letters, followed by cancellation of vital services. Essential in-patient treatments, physiotherapy, day care and home care support were halted.
Additionally, the Coronavirus Act suspended legal duties to provide support for children with special educational needs and families of children with rare conditions found themselves grappling with home schooling and care needs alone.
As health, social care and education services begin to return to the “new normal”, ARDEnt are finding some services, vital to the wellbeing of families and patients affected by rare disease, facing delays and no clear directives for restarting.
Amidst the challenges there are opportunities. For those with Autism Spectrum Disorders, the slower pace of life and reduced crowds have been beneficial. Also, the overnight adoption of telemedicine has demonstrated its benefits and limitations for the future of healthcare.
Entering a new virtual reality
Patient groups have long challenged the traditional drug development timeline and methods that don’t work well for rare disease patients who are, often few, widely spread and are running out of time with progressive diseases. ARDEnt’s investigations show that COVID-19 has further damaged a fragile system with research studies, clinical trials and drug development projects postponed or cancelled. But there is hope.
Patient groups have long challenged the traditional drug development timeline and methods that don’t work well for rare disease patients.
Could new methods translate into more effective, efficient outcomes allowing for a continuation of services in a future crisis?
Remote signing of consent forms and remote audits: monitoring health through wearables; telehealth; deploying specialist nurses to collect bloods; and posting oral drugs – this pandemic has led to an almost overnight digital health revolution and a rethinking of how we can develop drugs when there is a time imperative. A precedent has been set and it is imperative these lessons are highlighted and adopted for the benefit of rare diseases.
Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for hischildren’s rare neurological diseases.Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential.
Through his work at the Wellcome Sanger Institute and Congenica, and involvement with the 100,000 Genomes Project, Charlie has been well placed to see the development of genomics over the years and the promises that it will bring to healthcare. However, he says there is always the danger of overpromising the benefits and at the same time, underdelivering.
“I saw this, in particular, with the finishing of the human genome,” says Charlie. “At that time, we thought this would be the holy grail for medicine. Many of the promises we made were not forthcoming, in particular to the pharma industry.
“In reality, finishing the human genome was the first step of what is a long journey.”
Unsurprisingly, in many respects, the human genome turned out to be a lot more complex than was originally thought.
“While there may be just under 20,000 confirmed protein coding genes, it turns out that much of the genome outside of these genes is also important in regulating how the genome is controlled. For example, we know that not all genes are expressed in all tissues and that not all genes are expressed during all developmental stages.”
Most current technology focuses on looking at the bits of the genome that produce proteins – this accounts for roughly 1-2% of the genome, so there’s 98% that we’re not looking at yet because we don’t know what it does.
Dr. Charles Steward
Now, however, the field is changing with respect to genomic medicine.
”This is essential information for the pharma industry to know about,” says Charlie. “If you are developing a drug, for example, for infantile epilepsy, then you need to know if your drug target is expressed in the brain and also during early development.
“Likewise, some patients may have a different version of a gene with respect to people on whom a drug has been tested, which means that drug might not work.”
While the ability to specifically target the genome for therapy for all patients is not yet a reality, the time will come when it will be.
“Already, we know of some types of epilepsy where the underlying genome can inform on specific therapy,” says Charlie.
“For example, people who have epilepsy caused by mutations in the gene SCN1A should not be prescribed sodium channel blockers, as this can make their epilepsy worse. Another example is pyridoxine-dependent epilepsy, which can result in severe developmental regression, caused by mutations in the gene ALDH7A1. Yet, this can be treated simply by administering a type of vitamin B6.
“While it is a very rare form of epilepsy, it is such a cheap and harmless medication that it is often used as a first-line therapy for infants in intensive care who have no genetic diagnosis.
“This is where the future of medicine lies – where we are able to read a patient’s genome and then direct care and therapy based upon that.”
Genomics also means we will be able to stratify patients, based upon their genomic makeup, to make clinical trials much more efficient and targeted.
“Currently, the approach is akin to throwing darts in the dark, where a clinical trial may use the same drug across a whole range of patients, each with a very different genomic makeup, in the hope that a drug will work,” says Charlie.
“For example, this approach was taken with the International Collaborative Infantile Spasms Study (ICISS) clinical trial that my daughter was on, where therapy was administered to patients with no idea of the underlying genome.
“While the clinical trial was successful in stopping seizures in around 72% of patients, which is an amazing result, nearly one third of patients did not respond. This is indicative of patients having different underlying aetiologies.”
In such epilepsy studies, where every seizure causes catastrophic brain malfunctioning, time is of the essence to prevent severe and irreversible developmental regression.
“Had clinicians known that this cohort was not going to respond to the clinical trial, perhaps because of their genomic makeup, a different treatment pathway could have been chosen,” says Charlie.
On one hand, unfortunately this means that many drugs are doomed to failure. On the other hand, many drugs that have been developed so far, but have not made it into the clinic, are worth revisiting, to see if their effectiveness can be improved with better genomic insight.
However, there are still hurdles to overcome to understand completely how a patient’s genome impacts their health.
Enhancing sequencing
Luckily there have been some encouraging developments in sequencing technology in recent years.
Currently, the most common way of looking at genomes in these settings is by using ‘short-read’ technology.
The human genome is too long to be sequenced as one continuous string by current technology – so short-read sequencing breaks DNA into short fragments that are amplified and then sequenced to produce ‘reads’ of around 150 nucleotides in length. Bioinformatic techniques are then used to piece together the reads into a continuous genomic sequence by aligning them to the reference human genome.
“That works really well most of the time,” says Charlie, “but if a patient has a region of the genome that’s deleted, or expanded, it’s very difficult for short-read technology to understand that. If you look at a region that is repeated or deleted, by, for example, 10,000 nucleotides in length and you’ve got a tiny read, you can’t match that to the genome with any confidence.”
To address these issues, scientists and clinicians are starting to look at ‘long-read’ sequencing.
These technologies directly sequence single molecules of DNA in real time, often without the need for amplification. This allows for much lengthier reads.
“Through this, we are able to more clearly resolve large changes in the genome,” says Charlie. “That’s going to be really helpful, because we know that large changes in the human genome are responsible for a lot of developmental disorders such as epilepsy and autism.
“Most current technology actually focuses on looking at the bits of the genome that produce proteins. As mentioned, this accounts for roughly 1-2% of the genome, so there’s 98% that we’re not actually looking at yet because we don’t know what it does.
“It’s likely to contain what we call ‘control regions’ – parts of the genome that control whether a gene is turned on or off. We need to start finding technologies that help us to understand these regions more fully.”
At the same time as trying to understand what those regions do, researchers may also be able to measure to what degree a gene is being expressed.
“If you can see that you have a gene that’s being massively over-expressed or under-expressed in a patient, with respect to a normal person, it may also be an indicator that there’s something wrong,” says Charlie.
“There are lots of technologies already out there, but we still need to wait for them to be included in general clinical practice. It’s still difficult to interpret a lot of these results. From a research point of view, you can make all sorts of guesses and hypotheses, but that can’t really apply in a clinical setting.”
Clearly, there are still challenges in integrating genomic medicine into everyday healthcare, yet great strides are already being made. For example, we are beginning to see genomic medicine being used to treat disorders caused by a single faulty gene, so the ability to replace the gene (or the affected part of the gene) should help.
One such example uses the adeno-associated virus (AAV), a small non-pathogenic virus that lives in humans (the way gut bacteria do) and travels freely around the body, including crossing the blood-brain barrier unimpeded.
Scientists are removing the virus’ DNA and replacing it with a ‘normal’ copy of a ‘faulty’ gene in the specific genetic nervous system disease. The virus then travels and delivers the ‘normal’ gene to the cells making them functional again. This has recently led to an approved therapy for spinal muscular atrophy.
Such technologies have immense potential to bring relief to patients with severe genomic disorders, although there remain ethical concerns about how these techniques could be used.
“The future will only see more of these technologies being embraced and it is clear that the pharma and genomics industry must start talking to each other again in earnest,” Charlie says. “We are entering the age where genomic medicine is no longer a pipe dream but actually becoming a reality.”
Frontline Genomics interview CamRARE MD, Jo Balfour
Jo, one of the founding members and current Managing Director at Cambridge Rare Disease Network (CamRARE) talks to FLG about her collaboration with Medics4RareDiseases and Rare Revolution Magazine to bring together a cross sector group of experts and advocates newly named ARDEnt (Action for Rare Disease Empowerment) to produce a report called “Future Proofing Rare Disease Care, Research, and Treatment.” The report aims to highlight the risks, gaps and opportunities presented by COVID-19 for the rare disease community.
Frontline Genomics: Please can you tell me a little about the mission of CamRARE and the work that you do?
Jo: Ultimately, we want to see a world where diagnosis, treatment and care for those living with rare conditions is exemplary. We want patients to be able to live independent and fulfilled lives, wherever possible. Unfortunately, there is still a very long way to go to achieve this vision. Despite leaps forward in genetic sequencing and diagnostic tools, diagnosis still takes an average of over four years. Once patients are diagnosed with rare diseases, the care pathways are usually unclear and 95% of patients still do not have a dedicated treatment. Many patients and their families struggle to know where to look for help or expert information. The term “rare” unfortunately means lacking in information, knowledge and professionals that are able to provide support. CamRARE acts as a bridge to help patient groups to gather support and connect with other stakeholders (such as pharmaceutical and biotechnology companies) to ensure the patient voice is firmly embedded into the generation of solutions to the various problems they face from diagnosis to care and treatment.
Frontline Genomics: It is clear that people with rare diseases are already facing difficulties in accessing the right healthcare services. How has COVID-19 affected the rare disease community?
Jo: We believe that the COVID-19 pandemic and the global response to it has disproportionately affected the rare disease community. For example, families caring for loved ones with rare conditions have been left feeling more vulnerable and isolated as the support network that is usually available, such as educational healthcare plans (EHCPs) and routine healthcare services, are temporarily suspended. Having to navigate the unexpected changes caused by the pandemic as well as shielding due to health vulnerabilities and home educating children who would ordinarily benefit from significant support in school, has put greater pressure on families. We are uncovering that research into rare diseases, clinical trials and drugs awaiting regulatory approval have been deprioritised, postponed and in some cases cancelled. Genomic services that would ordinarily have been available to families awaiting a diagnosis have been put on hold and resources diverted to COVID-19 projects.
Frontline Genomics: What led your team to produce your upcoming report?
Jo: The report is a direct response to the struggles that the community are facing during this pandemic. It aims to discover what is broken and what has stopped working in an already fragile ecosystem. We want to be able to provide an overview of the impact whilst recommending solutions to address the damage caused, not only for patient groups, but also for other stakeholders, such as biotech and pharmaceutical companies, that are actively working towards a treatment for patients. We are working collaboratively through ARDEnt with representatives from other charities, with healthcare professionals, representatives from the pharmaceutical industry and regulatory bodies to uncover the bigger picture showing the long-term impact of COVID-19 on the rare disease community. This cross-sector collaboration enables us to share experiences and knowledge and develop creative solutions for the problems faced by the rare disease community now and into the future.
Frontline Genomics: What do you hope to achieve with the report?
Jo: After consultation with cross-sector stakeholders in the rare disease field we have identified 3 priority areas to focus our data collection on which tie in with the UK Rare Disease Strategy which is due for review and republishing in 2020 (but is currently on hold). We aim to develop this report in order to influence the development of this new strategy to ensure the new opportunities emerging are included:
Delayed diagnosis Coordination of care Drug development and access to treatment Reassuringly, the response to the pandemic has brought about some opportunities for better working practices which will work in the favour of rare disease patients. For some time, the emergence of digital communication and tele-health has given hope to those living with rare diseases of accessibility to their health care professionals and reduced travel to appointments. Patient groups have challenged the traditional drug development timeline and methods which don’t work in the favour of rare disease patients who are widely spread and are running out of time with progressive diseases. This pandemic has led to an almost overnight digital health revolution and a rethinking of how we can develop drugs when there is a time imperative. Could this be replicated for rare diseases in the future? It is crucial these lessons are highlighted and adopted. A precedent has been set that we can use to the benefit of rare diseases.
Frontline Genomics: Could you tell me more about the U.K. Rare Disease Strategy 2020?
Jo: The first strategy was published in 2013, a national commitment to improve services and research for the rare disease community. The four devolved governments developed their own implementation plans from the policy to move things forward for the rare disease community. A new strategy was due to be published this year but is temporarily stalled because of the pandemic. We therefore want to take this opportunity to influence and improve the strategy and ensure it reflects the current situation. The new strategy needs to address the fact that the system was fragile prior to COVID-19 and has been further damaged. It should prioritise and focus on achievable goals to ensure it has the desired measurable impact.
Frontline Genomics: What are the next steps for the report?
Jo: We are in the process of undertaking an extensive literature review, collating data from a range of major surveys and studies, conducting interviews with key players, and identifying case studies. The report is expected to be published in December 2020. It is important, however, that this report is not seen in isolation so we will continue to monitor the situation for patients as the situation evolves and plan to be publish follow-up reports after six and 12 months.
Frontline Genomics: How can people who are interested get involved in the report?
Jo: We’re keen to discover how the different stakeholders have adapted and generated creative solutions in response to the pandemic. We are particularly interested in hearing from researchers and companies whose work in rare diseases has been impacted. Have your research studies, clinical trials or drug development projects been postponed or cancelled? Have you been able to make creative adaptations, are you adopting new methods to enable virtual clinical trials, or have you other ideas which could translate into more effective, efficient outcomes which would allow for a continuation of services in a future crisis? You can contact me at jo@camraredisease.org to discuss becoming involved or to arrange an interview as part of this project.
From speaking with Jo, it is clear that collaboration is at the heart of CamRARE and this upcoming report. Productive conservations from multiple stakeholders are needed to generate innovative and tangible solutions. They are the ones who are influenced by and influencing the progress made in the rare disease community. Therefore, it is important that their voices are amplified. It takes a team of passionate individuals to change the status quo and I urge you to contribute in any way that you can!
Isolation is common amongst those affected by rare disease. Disease specific and umbrella organisations provide vital services and connect isolated patients, but can regional grassroots communities play their part?
The diagnostic odyssey for rare diseases is well documented, people typically waiting an average 4.8 years for answers and receiving many misdiagnoses along the way[1]. The implications for patients and caregivers are manifold and commonly lead to feelings of isolation, anxiety, frustration and stress.
One would expect the receipt of a diagnosis to be a magic bullet, the beginning of a brighter future and of hope. But to discover that you or your child has a disease that is relatively unknown and poorly understood, leads to further isolation and unique obstacles.
The Forgotten Patients
Rare disease patients are too often the forgotten patients. Around 50% of rare diseases have no specific patient advocacy group supporting or researching their condition[2].
Being isolated,
marginalised and un-connected is highly toxic and can take its toll on the
collective mental health of families.
Desperately seeking
needles in haystacks
Disease specific
support groups help families to connect, share stories and seek advice from
others similarly affected. Often begun by families, they become significant,
impactful organisations providing support, driving awareness and funding research.
But is there a need
for a complementary regional, grassroots approach? Cambridge Rare Disease
Network has been holding multi-stakeholder rare disease events for five years
now and during that time has involved over 100 patient advocacy groups and many
more affected individuals.
Over time, a common
theme emerged. Although some were able to find comfort and empowerment from
interactions offered by disease specific or national umbrella groups, collectively,
they were searching for something else.
We want to be able to meet up regularly and do things with families local to us who understand our family.
Uniting communities
with common concerns
A serendipitous
invitation to take part in a charity ball led to the creation of our local rare
disease families, Unique Feet. Beginning with just four children, each with a
different rare condition, we worked with a dance teacher to create a moving
performance for the ball.
Friendships blossomed,
confidence bloomed, parents shared downtime, stories and ideas. Parents
admitted to sometimes feeling isolated within their local communities, feeling
misunderstood by schools and not catered for by local service providers.
They talked about
wanting their child to have friends who understood them and who didn’t judge
and to enjoy the company of local families who shared a unique understanding of
what it is to be rare.
Now 12 families strong and growing, meet regularly to do a wide range of activities from horse riding to yoga and birthday celebrations to seaside trips.
Sue Berry and her daughter Charlotte were unsure at first if this group was for them. Sue is now an active trustee of Cambridge Rare Disease Network.
Sue said “it can be important to find others with the same condition, but those families can be widely spread. Unique Feet 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”.
The role of regional grassroots communities
Uniting local
grassroots communities with common concerns helps reduce isolation. Problems
stop being unique and become a serious service issue to be addressed.
Unique Feet have
become friends offering acceptance, solidarity and support, but they have also
become the voice for families affected by rare disease in our region as they
become the group leaders, trustees of charities, they speak at events and
engage proactively with the media to share their collective story and invite
others to join them.
Cambridge Rare Disease Network is developing a complementary grassroot, regional approach to unite local rare disease communities.
[1] Engel et al., 2013 | [2] https://globalgenes.org/rare-facts/
As Rare Disease day 2020 approaches, we take a look at the biggest challenges facing orphan drug developers and ask whether the future is bright or bleak for these difficult conditions.
There could be as many as 7,000 rare diseases – defined in the EU as conditions that affect less than one in 2,000 people – but approximately 90% of them still have no effective treatments.
This is no small issue – as the common maxim goes, ‘rare diseases aren’t rare’. In Europe alone it is estimated that orphan conditions affect around 30 million patients, or around one in 17 people.
But many challenges still remain in research and market access for orphan drugs, and in fact recent analysis from GlobalData shows that the number of drugs awarded orphan drug designations (ODDs) by both the Food and Drug Administration (FDA) and the European Medicines Agency (EMA) has declined over the last six years, despite the benefits of these designations in speeding these drugs through development.
The EMA had a much greater decline in unique drugs awarded ODDs than the FDA, with a 49% decrease between 2014 and 2019, while the FDA only had an 8% decrease across the same time period.
“Orphan drugs are no longer under the radar and may be on a potential collision course with policymakers”
Quentin Hogan, GlobalData
“The FDA decline is however more surprising considering that 2017 was a bumper year for drugs awarded ODDs in the US, significantly beating previous records,” says Quentin Horgan, pharma analyst at GlobalData. “This large spike in 2017 for the US could be attributed to the FDA’s Orphan Drug Modernization Plan, which began in 2017 with the aim to clear out the backlog and streamline the ODD application process.”
The pricing question
There’s no doubt that rare diseases are an incredibly difficult area for any company to work in. The challenges are manifold, covering areas as broad as economics, research and disease awareness.
“There is an inherent economical challenge with rare diseases,” Dr Ron Jortner tells pharmaphorum. “As the market is, by definition, a small one, a company developing a treatment may find it hard to cover their costs, unless they charge a very high price for the drug, which in itself puts a huge burden on patients and insurers, and renders the treatment practically unavailable for many who need it.”
Jortner is a trustee of the Cambridge Rare Disease Network, a charity that aims to bring together stakeholders to aid treatment and care of orphan conditions. Jortner heads up the charity’s Companies Forum, which focuses on collaborations between industry stakeholders.
“The economical conundrum is a tough one to solve, it’s inherent and to some extent it will always haunt the field,” he says. “But there are ways to alleviate it.”
Regulatory pathways such as the EMA’s Orphan Designation are aimed at encouraging companies to take on development of drugs for rare conditions by allowing them a period of market exclusivity.
“Almost a third of all pipeline drugs are indicated for rare diseases”
“This type of solution alleviates the conundrum by making the outcome potentially more lucrative for the company,” says Jortner.
Another family of solutions aims to make drug development for rare diseases faster and cheaper – for example by offering some regulatory breaks.
“Regulators realise that for rare diseases, the risk-benefit balance should be different, because people have no existing treatment options,” says Jortner. “For example, an efficacy bar that would not justify approval for a common condition such as diabetes could still merit approval for a drug that addresses a rare condition with no treatment alternatives.”
Jortner says that another way to sidestep economic challenges in drug repurposing – where a molecule developed for a particular condition gets re-purposed for a rare disease – a process that is far cheaper than developing a new entity de novo.
Political challenges
The economic question, though, has become more pertinent in the last couple of years as political pressure on pharmaceutical pricing has intensified, especially in the US, where there is bipartisan support for new laws to lower drug prices.
“The impact of these political changes on orphan drugs is unclear,” Hogan says. “Despite the recent decline in the awarding of ODDs, the number of approved drugs with ODDs has increased as a proportion of FDA approvals over the last 20 years; orphan drugs are no longer under the radar and may be on a potential collision course with policymakers.
“This may be especially likely as the benefits of orphan drugs have recently been questioned by many, including Arthur Caplan, founding head of the Division of Medical Ethics at NYU School of Medicine in New York City, who in a 2019 JAMA article suggested that orphan drugs direct resources and focus away from more common and widespread diseases to treat illnesses with a very small patient pool.
“Yet the pharmaceutical industry has invested significantly in these drugs, drawn in by tempting ODD incentives that can extend market exclusivity and expedite approval processes of their products.”
Clinical trials
Beyond pricing questions, Jortner adds that there are additional challenges in clinical trials.
Because patients are few and often geographically scattered – and because clinicians are unlikely to have seen a disease before and be able to diagnose it – it may be hard to recruit enough candidates for trials, and expensive to arrange the logistics of the trial. Sometimes, he notes, a separate trial site needs to be set up just for one patient.
Jortner adds that regulators often have to accept that smaller patient cohorts, which would not be accepted for a more common condition, are necessary in orphan drugs.
Regulators still favour endpoints that can be compared to placebo groups, but not only is there a lack of established endpoints because of fewer trials in each rare disease, placebo groups are often also seen as unethical in orphan conditions – particularly those that affect children.
It may therefore be more appropriate to use a patient’s natural history as a comparator – but even this is difficult when we still lack information about many rare diseases.
“There are usually no natural history studies, very little scientific literature and few clinicians who have the expertise,” says Jortner.
He adds that another major factor exacerbating this is that there is often extremely low awareness of the disease, not only in the general public but also among healthcare professionals and the health system.
“This means that there is often no reimbursement pathway in some countries, and it’s very hard to make the case of the necessity of a treatment when no one has even heard of the condition.”
Luckily, Jortner says that many of the challenges are being addressed by the empowerment of patient support groups.
“These charities, often started by a patient family member, have gained enormous momentum with the rise of social media.
“Patient support groups have records and contacts to all patients, and often manage patient registries, through which they can make clinical trials recruitment far easier for companies. Patient groups also have great knowledge about the disease, its natural history, symptoms and care options – usually better than that of clinicians.
“And finally, the patient support groups raise disease awareness, by lobbying, talking to the media, publishing and organising events, facilitating the companies’ route to recognition and reimbursement. We are great believers in the power of patient support groups to help the industry overcome the above challenges – and by this, help make treatments possible for their own conditions.”
A thriving pipeline
Despite the myriad challenges, GlobalData’s analysis shows that almost a third of all pipeline drugs are indicated for rare diseases – suggesting that despite orphan drug designations themselves being on the decline, pharma’s enthusiasm for rare diseases has not waned.
The Cambridge Rare Disease Network believes that collaborative effort and stakeholder interaction are key for changing lives in rare diseases – with the Companies Forum focused on bringing industry players together to help ensure success in orphan drug R&D across the board.
“We bring together the main companies in the space, facilitate their interaction with patient groups, regulators and clinicians, and raise awareness of key issues and topics,” Jortner explains.
For example, because of the lack of awareness of some rare diseases, a company may have an asset in their portfolio that can address an orphan condition but might not have even heard of that disease. Another company or a patient group making them aware of it could lead to a new treatment.
Jortner notes an example of an interaction between a patient group and a company leading to an advance in drug development, with a drug now in Phase 2 to treat the fibrosis element of Alström Syndrome as a result of such interaction.
GlobalData’s analysis ultimately says that orphan drugs face an “uphill battle” in 2020 and beyond, but as gloomy as that sounds it’s hard not to remain optimistic – as it’s an uphill battle that the industry seems committed to fighting.
Imagine finding out that you have a disease that affects only one person in the country. You.
Now imagine that it took you years to get this diagnosis, because almost no-one had heard of your disease. Think about how many doctors you’d have seen, and how you’d have to tell the same story, again and again – only to be told that what you have doesn’t exist, or to be given diagnoses and medications that make no sense or have no effect.
How much time and money would you spend travelling to see overseas specialists, while feeling progressively worse with each passing year? How would you work? How would you feel, when you finally got a diagnosis, to learn that there was no cure?
Unfortunately, this terrifying scenario is only too real. Last week, the team from 11 London went to RARE Summit 2019, organised by the Cambridge Rare Disease Network, and met Carina Thurgood, whose daughter was diagnosed with Hereditary Spastic Paraplegia 15 (SPG15). There’s no one else in the UK with this condition, it’s still untreatable, and to quote Carina, the quest for a diagnosis is ‘not a journey, but an odyssey’.
Rare diseases in Europe
There are around 7,000 recognised ‘rare’ diseases; in Europe, ‘rare’ is defined as affecting fewer than 1 in 2,000 people. However, given that 1 in 17 people in the UK have a rare disease, the community as a whole is substantial. Or, to put it another way, it’s quite common to have a rare disease.
But far too little is known about them. Over 80% of rare diseases are genetic, so they are only recognised today thanks to the mapping of the human genome in the last two decades. And only 5% of them have a therapy that can deal with the disease in some way. At this current rate of progress – with just 10-15 drugs for rare diseases approved each year – it could take around 500 years before we can help everyone. Faced with depressing statistics like this, it’s hard to see a way forward.
Yet, undaunted, a raft of amazingly committed groups and individuals are campaigning hard to improve the outlook. We left the RARE Summit uplifted by the prospect that, collectively, it is possible to make a difference sooner than the numbers suggest.
The importance of quick diagnosis
For instance, diagnosis plays a key role. So an improved NHS flagging system could help people get a correct diagnosis faster, rather than suffer the agony and ignominy of being passed from pillar to post. And that diagnosis – with the help of systems like the Q-POC™, developed by 11-London clients QuantuMDx – could happen at a genetic level. But it will take a procedural and mindset shift among HCPs and CCGs to achieve this.
Then there are ways in which we can help patient groups fundraise, deal with business admin, and raise awareness faster. Most patient organisations face similar challenges, but don’t know how others have resolved them. So a case study sharing programme like Bob Health, aimed at helping the rare disease community access best practice examples uploaded by their peers, could save a lot of guesswork and frustration.
There’s no doubt that having a rare disease can be lonely, but connecting with other people in the same or a similar situation can make life more bearable – and can only help the quest for a cure. Even if people don’t have the same precise genetic condition, sometimes there can be similar clinical manifestations of it. For instance, Gaucher’s disease is rare, but it can show up as Parkinson’s disease. When this happens, Gaucher patients could share some of their experiences with Parkinson’s patients – of whom there are many more. Moreover, researchers have started to investigate the scientific reasons for the interconnection, which may provide answers to treatment for both conditions.
None of these measures are a substitute for the investment of time and money needed from drug companies, biotech, academia and medical professionals. But, together, they could help the fragmented rare disease community move more effectively towards what are often common goals. And it’s clear that communications have a critical role to play in making the best of the assets we already have: by sharing best practice, testing better practice, raising awareness and connecting people.
Find the process of becoming a charity a large and daunting task?
Attend our FREE, 3-day online workshop to help your patient group progress down the right path to securing charity status and formalising your organisation.
Our Senior Projects Officer, Philippa (Phil) can sing!
Phil joined This is Rare, a Sanofi UK-sponsored campaign that puts the voices of the rare disease community centre stage in the call for greater recognition, awareness and advocacy for the 1 in 17 people affected by a rare disease in the UK.
Our CEO and Marketing & Engagement Manager teamed up to discuss why innovative therapies are failing to reach patients and how drug repurposing initiatives, such as REMEDi4ALL, NHS England’s new Medicines Repurposing Programme and LifeArc’s drug repurposing toolkit are helping to repurpose medicines for all conditions with high unmet medical needs.
The Resources Hub is a 100% free e-learning platform that is full of exclusive content that guides patient groups through every stage of their rare disease journey.
REMEDi4ALL is a new flagship EU-funded research initiative to drive the repurposing of medicines across the UK and Europe. We’re one of 24 UK and European partners working to repurpose medicines to treat some of the world’s rarest and most neglected conditions.
Bear with us while we make this website mobile-friendly
We understand there will be mobile navigation issues to resolve on our new site. Please bear with us as we work on them.
Ensuring that no one faces their rare journey alone
Beacon (formerly known as Findacure) is a UK-based charity that is building a united rare disease community with patient groups at its heart. We envision a world in which no one faces their rare journey alone. Our charity upskills rare disease patient groups through trainings, guided programmes, community projects and research initiatives. We help these groups maximise their impact and deliver change for the world’s often neglected rare disease patients.
Rare diseases affect between 3.5% (263 million) and 5.9% (446 million) of the global population. Sadly, this population struggles to receive a diagnosis, treatment or meet another with the same condition. Patient groups are a lifeline for those living with a rare disease. They provide emotional support and advice for day-to-day living. Patient groups are the impetus behind new care pathways and treatments.
We are here to help those groups be the best that they can be.
Ensuring that no one faces their rare journey alone
Beacon (formerly known as Findacure) is a UK-based charity that is building a united rare disease community with patient groups at its heart. We envision a world in which no one faces their rare journey alone. Our charity upskills rare disease patient groups through trainings, guided programmes, community projects and research initiatives. We help these groups maximise their impact and deliver change for the world’s often neglected rare disease patients.
Rare diseases affect between 3.5% (263 million) and 5.9% (446 million) of the global population. Sadly, this population struggles to receive a diagnosis, treatment or meet another with the same condition. Patient groups are a lifeline for those living with a rare disease. They provide emotional support and advice for day-to-day living. Patient groups are the impetus behind new care pathways and treatments.
We are here to help those groups be the best that they can be.
Our in-person, virtual and on-demand trainings give patient organisations the tools and confidence they need to form, grow and professionalise.
Rare Community
Our community projects unite patient groups, researchers, healthcare professionals and industry representatives to encourage collaborations, advancing the field of rare diseases.
Rare disease research
Our drug repurposing conference and research projects aim to bring crucial new treatments to the world’s rarest patients.
Our community projects unite patient groups, researchers, healthcare professionals and industry representatives to encourage collaborations, advancing the field of rare diseases.
As a carer of a son diagnosed with ring 20 syndrome, Allison Watson increasingly felt the need for a patient group that would provide support and advice to help families and patients cope with the condition.
Bhavna’s world changed forever when her seven-year-old son, Ethan, was diagnosed with Stargardt’s: an inherited, condition that slowly leads to sight loss.
Bhavna’s world changed forever when her seven-year-old son, Ethan, was diagnosed with Stargardt’s: an inherited, condition that slowly leads to sight loss.
As a carer of a son diagnosed with ring 20 syndrome, Allison Watson increasingly felt the need for a patient group that would provide support and advice to help families and patients cope with the condition.
Click on the link which best describes you. We’ll point you to our most relevant pages and additional places for support within the rare disease community.
Click on the link which best describes you. We’ll point you to our most relevant pages and additional places for support within the rare disease community.
At Beacon, we want to ensure that no one walks their rare journey alone. To achieve this, rare diseases must be viewed under one, united umbrella by patient groups, researchers and policymakers alike. Our work encourages patient organisations to work together for the benefit of all rare conditions. The pharmaceutical industry and research sectors must recognise the importance of the patient voice.
Work with us to make this happen! Discover our corporate giving and community fundraising opportunities to learn how you can bring hope to millions of people around the world. Each pound you give will help to break the isolation experienced by rare patients around the world.
“Patient groups like Beacon provide critical information and resources to help the rare disease community get closer to treatments for devastating illnesses.”
“Without the help of Beacon I could not have achieved what I have as chair of Behçet’s UK this past 4-years.”
Support our mission
At Beacon, we want to ensure that no one walks their rare journey alone. To achieve this, rare diseases must be viewed under one, united umbrella by patient groups, researchers and policymakers alike.
Our work encourages patient organisations to work together for the benefit of all rare conditions. The pharmaceutical industry and research sectors must recognise the importance of the patient voice.
Work with us to make this happen! Discover our corporate giving and community fundraising opportunities to learn how you can bring hope to millions of people around the world. Each pound you give will help to break the isolation experienced by rare patients around the world.
It’s been and exhausting but exhilarating week, the highlight being attending RAREsummit19 at the Wellcome Genome Campus organised by the Cambridge Rare Disease Network on Monday 23rd Sept 19.
From showcasing our latest poster on our Ring20 stand, to presenting to a packed auditorium of 250 people, to the numerous leads to follow-up in terms of future collaboration – and to top it all I made the BBC News that evening! (check out the video: BBC News video clip).
It was an early start, driving up to Cambridge from Essex to arrive for 8am to put up our new poster and arrange the stand.
The theme we chose for our our poster was ‘Solving the puzzle’ of diagnosis. r(20) syndrome is perceived as under-diagnosed and likely misdiagnosed. A big part of the problem is the lack of awareness among pediatricians and neurologists of the signs and symptoms of r(20) which are very similar to other rare epilepsies such as Lennox Gastaut Syndrome (LGS) because of the slow spike wave EEG pattern and prolonged non-convulsive status epilepticus (NCSE). Standard panel tests for genetic epilepsy DO NOT currently detect ring chromosomes, so unless the treating physician knows to request a karyotype to test for chromosomal mosaicism (and to submit at least 50-100 cells – which is more than usually submitted), then the chances of an r(20) diagnosis being made are actually very slim. We suspect that a proportion of patients with other epilepsy diagnosis e.g. LGS may actually have r(20), but have never had the diagnostic testing to prove this…
DID YOU KNOW that ring chromosomes occur 1 in 50,000 live births? So, why are there only 150 cases of r(20) cited in medical literature worldwide – we would expect a lot more…
Why is diagnosis important?
Diagnosis can lead to different options for care and treatment. Very topically at the moment we are all hearing about Cannabidiol (Epidyolex) in the news which is licensed in the US, and has just this week been approved by the EMA in Europe. Whilst there’s some way to go for each European country to determine whether to offer Epidyolex under its own national health system, if and when it is approved for use it will initially only be available to those with a diagnosis of Dravet Syndrome or LGS as an add-on to Clobazam. It may be quite some time before this treatment can be prescribed off-label to other complex rare epilepsy patients such as those with r(20) syndrome – and yet we share the same symptoms as many LGS patients?I was privileged to be offered a spot on the patient panel, kicking off the main proceedings of the day. Nervous, but confident in my subject matter I took to the stage and waited for my slot to speak.
The panel theme was Patient groups partnering in the drug development process. Something for everyone? and my lovely mentor Ana Mingorance (pictured here) was facilitating. Ana was appointed to me by EURORDIS as part of the leadership program I’m following this year and this was the first face-to-face meeting for us, Ana is a neuroscientist and has a background working in drug discovery and development in the pharmaceutical industry. She has worked with the Dravet Foundation in Spain and now works with the LouLou Foundation (which represents CDKL5 another rare epilepsy).My presentation centered around the fact that as a patient group representing an ultra-rare disease we are at the very start of the drug development journey – in fact, we have some way to go to even take our first steps since we have a limited no. of diagnosed cases, no patient registry, very little research, no bio-markers and have never been involved in a clinical trial. Yet, I turn this on its head and suggest that we are ripe for opportunity! I explained that, even as an ultra-rare disease patient organisation we can still get involved and raise the profile of the disease we represent, which is exactly what I’ve done through my engagement in EpiCARE the European Reference Network (ERN) for rare and complex epilepsies. By simply participating in the discussions and being present, r(20) is getting heard and recognised and I know for a fact that in the regular Clinical Patient Management System (CPMS) sessions – where neurologists from across Europe discus the most complex cases in a virtual consultation session – recently several cases have been suggested to check for an r(20) diagnosis. Even if they’re tested and found not to be r(20), that’s progress! We’re also working on several initiatives to produce educational materials for clinicians and patient families as part of EpiCARE – this wouldn’t have happened if I wasn’t volunteering for them.
My talk was recorded so I’ll share this as and when it becomes available.
Immediately after my presentation was a much-needed coffee break, however I was approached immediately by two representatives from Illumina ( the company behind the super-computers who sequence the human genome on campus as part of the 100,000 genomes project). There interest was piqued by my talk and they want to talk more to see if they can help us. Jillian Hastings-Ward Chair of UK #Genomes100k Participant Panel popped by my stand to say hello too – we met a couple of months ago when I last spoke at the Sano Genetics event. Next up was Mary Bythell Head of Rare Disease Registration from the National Congenital Anomalies and Rare Disease Registry Service (NCARDRS). We’d previously been in contact with NCARDRS and found that they hadn’t any records yet of r(20) patients, however now they’re interested in speaking to us about how we can change this and we’ve already lined up a call to talk about next steps.
For those of you who don’t know about these 3 organisations, they form the triad of services in the UK created as a result of the UK Rare Disease Strategy 2013-2020, which is due to be renewed shortly. These are key players in genomic sequencing/diagnosis (in which the UK are world leaders), rare disease registration and access to research for rare disease patients. We really want r(20) to be on their radar and we’re working hard to make this happen. (In fact we are also in conversation with NIHR Bioresource Unit to determine how we might get an r(20)/ring chromosome cohort on their books.)
In the afternoon we were challenged to participate in a hackathon introduced by Baroness Nicola Blackwood, Parliamentary Under Secretary of State at the Dept of Health and Social Care. Baroness Blackwood has a rare disease herself and so is a positive advocate for our community. We broke out into groups to cover different topics including diagnosis, care coordination, access to research, cost of treatment and patient empowerment. There was some lively discussion and I shout out for the ultra-rare diseases (including r(20)) where simply the basic needs must be met first and that the onus should not be on small ‘kitchen table’ patient organisations to fund these activities e.g. having a record of patients so its known how many people are affected and how they can be contacted for research participation. The results were discussed as a whole group and the key themes will be written up and presented back to Baroness Blackwood later this year, as input to the next UK Rare Disease Strategy. (This is the 3rd event where I have contributed to input to this strategy in a week, as I’ve also been working as part of the rare disease sub-group for the Neurological Alliance as well as attending an event organised by Genetic Alliance UK, so as a patient group we’re definitely having our say and contributing to the final outcomes!)
There were many friends and acquaintances to catch up with at RAREsummit19 including Rare Revolution, Findacure, AKU Society, fellow EPAG representatives including from Pitt Hopkins, Jelena Aleksic from Sparkbio, Patrick Short from Sano Genetics…the list goes on. Although there are reported to be 8,000+ rare diseases the patient community is quite tight and strong and we all support each other like one big family. Ron Jortner (from Masthead Biosciences and Trustee for CamRARE) recently contacted me about r(20) and included us in one of his talks – he’d now like to follow-up with a potential opportunity for us to present to pharma companies in the near future.
One of the organisers, Joanna Segeith (from Biosynetix) got in touch before the event and we had a brief dialog on the day. Joanna has an idea for a research opportunity for ‘basket’ trials and we’re going to be speaking to Prof Helen Cross re how the 3 of us might take this idea forwards.
Just getting out there and talking about r(20) syndrome really does get us noticed. Perhaps next time one of you will join me as I could really use the support.
You may be thinking that many of the opportunities from this event are UK based, but we have to take small steps and start somewhere. My work with EpiCARE means we’re also working at a European level. Next stop to conquer the world – one step at a time…eh?
I’ll keep you posted on any developments. This really is where the magic happens!
This weekend Patient Worthy attended RAREfest, an event held in the UK by the Cambridge Rare Disease Network. It brings together patients and their families, researchers, doctors, and the public to engage with rare disease issues.
One of speakers at the event was Dan Jeffries, author of Me, Myself, and Eye. His book, a memoir, is a humorous and insightful exploration of what it was like to grow up with one rare disease, and then being diagnosed with a second. While we were talking he generously offered me a free copy, which is next on my reading list!
Dan’s First Diagnosis
Dan was diagnosed with Wyburn-Mason syndrome as a child. Wyburn-Mason syndrome is a rare disorder that affects the blood vessels, most often in the eyes and midbrain. “My condition was diagnosed completely by chance,” Dan says. When his dad took him for a routine eye exam, he was quickly referred to an eye hospital to see a specialist.
Wyburn-Mason Syndrome
Wyburn-Mason syndrome can cause a range of symptoms that often vary between patients. In Dan’s case, it caused vision loss in his left eye. At first, he was prescribed glasses that covered his right eye, to try to force the left eye to half or reverse its deterioration. However, it wasn’t successful and by 11 years old Dan was fully blind in his left eye.
Revisiting the Hospital
Years later, in 2007, Dan got a letter from the eye hospital that had treated him as a child, asking him to come back and be a case study for their medical students. Since his condition was so rare, the hospital teachers thought it would be a useful training exercise to ask their students to diagnose Dan. However, when he got there it wasn’t what he expected.
The students started to comment on his appearance – his large hands and feet, and protruding jaw and brow. Dan had been noticing these gradual changes in his appearance, and felt self-conscious about them. “I really did not like the way I looked”, he says. After so many medical students brought it up during their diagnoses, he decided to ask the doctor about it, and was advised to go to see a doctor about acromegaly.
A Second Diagnosis
Acromegaly is a hormonal disorder, caused by too much growth hormone, which causes a range of symptoms – including those Dan was experiencing. In his case a small tumour by the pituitary gland (which produces growth hormone) caused the condition. He underwent surgery to remove the tumour, and, he says, “Amazingly I began to change back to how I was.”
Sharing His Story
A few years after his operation he decided to write about his experiences with two rare conditions, which turned into Me, Myself, and Eye. Since then, he’s been an active member of the rare disease community, taking part in interviews, giving talks, and even organising the UK’s first ever official meet-up for people with acromegaly. Having a rare disease can be challenging, Dan says, “but it can also be incredibly rewarding,” because it gives you a chance to raise awareness and make a difference.
Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.
