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News ArticleA new study has revealed that families of some cancer patients are being denied the opportunity to learn about their potential cancer risk due to inconsistencies in genetic testing. Academics have warned that the absence of adequate testing for Lynch syndrome is leaving some cancer patients unaware of their risk of developing other cancers. Lynch syndrome, a rare hereditary condition, elevates the risk of cancers of the bowel, womb, and ovaries. It arises from a gene mutation affecting DNA error correction during replication, potentially leading to uncontrolled cell growth. NHS guidelines stipulate that patients with bowel or womb cancer should undergo tumour assessments for Lynch syndrome markers. The identification of these markers should prompt a referral for genetic testing, confirming the diagnosis and enabling access to support and guidance regarding cancer risks for both the patients and their families. However, a new study by academics at the University of Edinburgh found not all womb cancer patients are being sent for genetic testing. Researchers said those who were referred faced long waits, resulting in high dropout rates, meaning only 48 per cent of those eligible went on to get the test. Experts from the university said gaps in testing mean some womb cancer patients with Lynch syndrome go undetected. Read full story Source: The Independent, 10 June 2025
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News ArticleThe NHS is “not working” for people in the UK with rare diseases as they are left to “fall through the cracks,” a damning new report has claimed. Nearly three in ten (30%) people with certain uncommon conditions say they are waiting for five years between symptoms starting and being diagnosed with their condition. Many are still facing “poor care co-ordination” after their diagnoses, the report by the Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) finds, alongside difficulties accessing information and support. Geographical factors also make too big a difference, the authors add, with where people live making a drastic difference to the level of care they can expect to receive. The report claims that the UK health system has had an “increasing focus” on major and common conditions, but people with these rare conditions are being left to “fall through the cracks”. Read full story Source: The Independent, 29 April 2025
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Content ArticleThe Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) has launched a report revealing that individuals living with rare autoimmune rheumatic diseases (RAIRDs) experience stark variations in their care and treatment. The report, developed in partnership with Ipsos, draws on survey responses from over 1,300 people across the UK and paints a concerning picture: nearly one in three respondents waited more than five years for a diagnosis, with the average wait time standing at two and a half years. Key findings from the report include: 86% of those who waited over five years for a diagnosis said it negatively impacted their ability to complete everyday tasks. 73% reported a negative effect on their mental health. 66% of working individuals said their condition impacted their ability to work effectively. Only 16% of respondents felt they had sufficient access to information and support. Just 26% had confidence in their GP’s understanding of their condition. RAIRDA is calling for urgent action. The report sets out a series of practical policy recommendations, including: The introduction of clear and measurable targets for timely referrals and treatment. A named care coordinator for every person with a RAIRD. Increased investment in research to improve diagnostic pathways.
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Content ArticleThe UK Rare Diseases Framework, published in January 2021, set out a shared vision for addressing health inequalities and improving the lives of people living with rare diseases across the UK. This is the fourth action plan setting out how the Department of Health and Social Care and delivery partners will implement the UK Rare Diseases Framework in England.
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EventuntilFor the first time, Making Families Count are collaborating with SOFT UK, a charity that supports families caring for children with a rare and life-limiting genetic condition. Speakers will be drawn from the families and healthcare professionals who are part of the SOFT UK community, sharing their stories and lived experiences and giving suggestions that may help you support the families you work with. The Department of Health UK Strategy for Rare Diseases (DHSSPS 2020) estimates that rare diseases, including genetic conditions, affect the lives of over 3 million people in the UK. Of these, a significant proportion are children with genetic life-limiting and life-threatening conditions. The parents of many of these children often talk of the challenges of parenting a disabled child and their sometimes stressful interaction with healthcare professionals. This webinar will give you greater insight into the lived experience of families caring for a child with complex needs. We will explore their day-to-day challenges in dealing with the anxiety of hospital admissions, difficulties of communicating with and being heard by healthcare professionals, the challenge of balancing the needs of the whole family, and the stressful burden upon parents over time. This webinar is for… Paediatric nurses Paediatric / Community nursing teams Complex Care Team (Paediatrics) Respite Care (Paediatrics) Play Specialists Hospital at Home teams (Paediatrics) Paediatric / Children’s Occupational Therapists Paediatric / Children’s Physiotherapists SALT Child Development Centre staff Paediatric Outreach Teams Presenters: Dr Alison Pearson, a post-doctoral research fellow in education, well-being, and resilience and mum to 13-year-old Isabel, who has full Edwards’ syndrome. She draws upon her research and her family’s lived experience to talk about the challenges of hospital acute admissions for Isabel and the impact on her whole family. Una McFaddyn, a recently retired Consultant Paediatrician with a special interest in respiratory and neonatal paediatrics. Una has a long-standing interest in children’s rights and has worked with various projects involving children and parents as partners in care. She will provide the perspective of a healthcare professional on supporting families and their children. You will also hear other voices from the SOFT UK community of families via several films and audio clips, bringing to life the experience of a wide range of parents who care for children with complex care needs. Learning outcomes: At the end of this webinar, you will have an appreciation of the challenges facing parents who care for a child with complex needs – specifically the anxiety of acute admissions to hospital, communication issues with healthcare staff, and the wider impact upon families. You will be able to use that deeper understanding to shape the care and support you can offer these families in your own practice. Register
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Content Article
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This constructive commentary reflects on two recent related publications, the Healthcare Safety Investigation Branch (HSIB) report, Variations in the delivery of palliative care services to adults, and an article from Sarcoma UK, Family insights from Dermot’s experience of sarcoma care. Drawing from these publications, Richard, brother-in-law of Dermot, gives a family perspective, calling for a more open discussion around how we can improve palliative care and sarcoma services, and why we must listen and act upon family and patient experience and insight. Update (9 August 2023): how patient stories are used is the subject of a current 'discovery phase' project led by the NHS Learn from patient safety events (LFPSE) service. See comments below this blog for more information. I believe it needs urgent attention, given my experience below, by ‘innovative’ bodies like HSIB who are meant to be exemplars- much more needs doing involving patients and families at the heart. Please participate. When my brother-in-law Dermot died from sarcoma, an aggressive cancer, the family were shocked at how fast it progressed, and the difficulties palliative services had in making a difference to his suffering. We wanted learning to come from our experience so that others need not go through the same trauma. We had never wanted a media scare story and we were not ‘complaining’ about the valuable NHS and associated services, which we know are on their knees with numerous resourcing and organisational challenges. We referred Dermot’s experience to HSIB because we wanted an investigation to be carried out by this novel, innovative, expert body to learn lessons at a general service system level. HSIB concluded their findings from the investigation in a report, Variations in the delivery of palliative care services to adults, which we welcome and support. The report touches on a real part of Dermot’s story and does provide a damning indictment of how much palliative services need to improve to provide a key national care service for anyone to access, wherever they live. However, due to the narrow scope and the methodology it uses it misses, in our opinion, many key issues of Dermot’s experience, all despite hours of our work as a family reading the medical notes, drafting and feeding back our perspectives, many times, over the course of two and half years. Our voice, insights validated by some experts in the field, recollections of what really happened, witness testimony, questions and suggestions, were harder to get fully and authentically expressed in the report. The family were disconcerted and frustrated that there were some key events that were either omitted, misrepresented or post hoc rationalised by services so as to create a story that does not wholly reflect what happened and the effect it had on Dermot and the family. Moreover, what is missed is what the family believe needs to happen to prevent a repeat trauma for others. Because of the complexity of Dermot’s case, we do not believe the report findings if implemented would make a significant enough difference to others with equally complex journeys. Fortunately, during Dermot’s sarcoma journey, the family made contact with two charities that had a patient advocacy and advice focus from trained staff with clinical nurse specialist experience. One was a local cancer charity that really understood the local services available to us, and the other was Sarcoma UK that understood sarcoma. Both encouraged open feedback and discussion from patients about what has to be done better and, vitally, the sharing of this more widely. Sarcoma UK has published our account in the article, Family insights from Dermot’s experience of sarcoma care. It covers many additional issues that were not in scope for the HSIB report, but are closely related to it – for example, patients’ experiences of services from early in the care pathway, which significantly impact their whole experience, and also the quality of care received. These cannot be neatly compartmentalised and definitely played a role in Dermot’s suffering. The family has profound regrets that this fuller experience has not been fully investigated despite detailed work by the family and correspondence and discussions with some national experts. We really hope this account starts useful and fruitful discussions with its positive and constructive suggestions. Our main recommendations examine in a clear accessible way issues like the dynamic nature of the diagnostic and prognostic process; post-surgical symptom monitoring, and the nature of expert support that is needed to enable timely, appropriate interventions should the illness deteriorate; and, finally, what implications these types of aggressive unpredictable illnesses have for delivery of all post-surgical services, including palliative services. It is designed for service providers looking at cross-service communication, but also highlights issues patients may want to consider on their journey, particularly post-surgery. Since the publication of the report, we have had correspondence with an eminent palliative expert who has suggested that the role of hands-on-specialist palliative staff and sarcoma experts does require more clarity and attention, which is not highlighted in the HSIB report but alluded to in our experience. We want to contribute our suggestions and our insights to inform service reflection and change. The NHS needs defending and resourcing, but it also needs an open, patient-centred learning culture. There is literature on ‘work as done’ and ‘work as imagined’, which is used to analyse professional work in the safety learning field. Our contribution suggests more work has to be done on ‘work as experienced by patients and families’ and ‘work as requested and needed by patients and families ‘ and how these interrelate to the ‘service-centred’ perspective, which we believe overly governed the investigation process. Are patient-centred investigations so unacceptable to the system learning process? They may, after all, provide real challenge to system-controlled processes which led to harm. We are grateful for Sarcoma UK for facilitating the expression of an alternative viewpoint at the same time as the important HSIB report, and for HSIB for giving space for a family statement in the report.- Posted
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EventuntilInnovative medicines provide the opportunity to transform patient care, pathways, and outcomes. But how do we improve access and uptake of these medicines in a way that is affordable, and that supports the already overstretched health and care workforce. This free online event from the King's Fund is an opportunity to consider some of the key challenges to access and uptake of innovative medicines in England. It will discuss: the current barriers to improving access to new medicines how to build on experiences and lessons from the rapid development, approval and rollout of vaccines and treatments as response to the Covid-19 pandemic. It will also consider what more can be done to address inequalities in uptake – especially in areas such as rare disease – and how to support and engage with an already overstretched workforce to improve uptake. Speakers will discuss: patients’ experiences, including how to address issues with variation in access and care how we realise the potential of innovative medicine in the light of the frontline challenges NHS clinicians and patients are facing and engage in the development of new models of care to facilitate uptake. Register
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EventThis conference will discuss the next steps for rare diseases policy in the UK, looking at priorities going forward for the Rare Diseases Framework, the role of genomics in improving diagnosis and care, and the future for research, treatment access, and system preparedness. Taking place following the publication of the Rare Diseases Framework earlier this year, delegates will discuss the first year of its delivery, the impact of the pandemic, and the key priorities for delivering ambitions within the framework over the next year. It will also be an opportunity to look at the impact of policy developments within the life sciences and health research landscape, as well as the opportunities these developments present for improving rare disease outcomes, including the Genome UK Implementation Plan, the Life Sciences Vision, the Future of UK Clinical Research Delivery, and the new Innovative Medicines Fund. Key areas for discussion include: taking forward the UK Rare Diseases Framework and priorities for improving diagnosis and care the implementation of Genome UK and harnessing genomics to improve the understanding, detection, and treatment of rare genetic conditions developing the UK’s research ecosystem, improving access to new and innovative medicine and treatment, and the potential for global leadership in this field raising awareness of rare diseases across the health system, meeting new workforce needs, and developing expertise to support high-quality care. Register
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Content Article
Gene therapy: Your questions answered (19 July 2018)
Patient Safety Learning posted an article in Rare diseases
NORD’s RareEDU™ released this video, Gene Therapy: Your Questions Answered, in order to address a vital topic to today's rare disease community. The goal of this video is to address the questions, hopes and concerns that patients and caregivers, across many different diseases, have about gene therapy. Since more than 80% of rare diseases are believed to be genetic, this video serves as a helpful resource for the rare disease community. -
Content Article
OrphanAnesthesia: Patient Safety Card
Patient Safety Learning posted an article in Rare diseases
OrphanAnesthesia offers a Patient Safety Card for all hospitals, patients, and support groups. The patient or the physician fills in the name of the rare disease to notify the anaesthesiologist/ emergency personnel of the rare disease, and of the recommendation for the anaesthetic management. The card should be given to the anaesthesiologist before anaesthesia. It should be carried by the holder in case of emergency. The OrphanAnaesthesia website is indicated on the card for further information. You can also download it from the attachment. -
Content ArticleWhile approximately one in ten Americans suffers from a rare disease, only 5% of rare diseases have a U.S. Food and Drug Administration (FDA) approved treatment. Congressional and regulatory efforts to stimulate the development of rare-disease treatments, while laudable, have not resolved the fundamental issues surrounding rare-disease treatment development. Indeed, small patient populations, incomplete scientific understanding of rare diseases, and high development costs continually limit the availability of rare-disease treatments. To illustrate the struggle of developing and approving safe rare-disease treatments, this article from While approximately one in ten Americans suffers from a rare disease, only 5 percent of rare diseases have a U.S. Food and Drug Administration (FDA) approved treatment. Congressional and regulatory efforts to stimulate the development of rare-disease treatments, while laudable, have not resolved the fundamental issues surrounding rare-disease treatment development. Indeed, small patient populations, incomplete scientific understanding of rare diseases, and high development costs continually limit the availability of rare-disease treatments. To illustrate the struggle of developing and approving safe rare-disease treatments, this article from Julien B Bannister begins by discussing the approval of Eteplirsen, the first drug approved for treating a rare disease called Duchenne muscular dystrophy. After exploring the current drug regulation system and how this impacts the availability of rare-disease treatments, he examines the 21st Century Cures Act's patient experience data provisions and the pending Trickett Wendler Right to Try Act. Ultimately, the unmet therapeutic needs of rare-disease patients can be met while protecting patient safety. Bannister reasons that, if carefully implemented, the 21st Century Cures Act and the Trickett Wendler Right to Try Act could work in tandem to safely facilitate patient access to rare-disease treatments.
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Content ArticleTransparent collaborations between patient organisations and clinical research sponsors can identify and address the unmet needs of patients and caregivers. These insights can improve clinical trial participant experience and delivery of medical innovations necessary to advance health outcomes and standards of care. Roennow et al. share their experiences from such a collaboration undertaken surrounding the SENSCIS® clinical trial and discuss its impact during, and legacy beyond, the trial.
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Content Article
Illuminating the rare reality (28 February 2019)
Patient Safety Learning posted an article in Rare diseases
This report is a culmination of findings from Rare Disease UK and Genetic Alliance UK to evidence the experiences of those living with a rare condition. The report underpins their call for a refresh and review of the UK Strategy for Rare Diseases focussing on five key areas: diagnosis, rare disease care and treatment, information and support, rare disease research and keeping the strategy up to date. There is a substantial need for continued research and renewed policy focus into rare diseases. As such, the report makes five recommendations. Implementing these recommendations will help to improve the lived experiences of rare disease patients: Recommendation one: Review and refresh the UK Strategy for Rare Diseases before the end of 2020. The strategy has become obsolete as technologies, policies and systems have moved on. Its commitments urgently need updating to ensure rare disease patients receive high quality services, treatment and support regardless of where they live in the UK. Recommendation two: Improve diagnosis and early intervention. Make the most of data and technologies for faster and more accurate diagnosis of rare diseases. Realise the value of the UK’s investment in genomics to ensure that rare and genetic conditions are identified as soon as possible, improving health outcomes and saving money for the NHS. Recommendation three: Modernise rare disease care and treatment. Introduce a comprehensive culture of best practice in the NHS, delivering evidence-based and coordinated care. Recommendation four: Enable people living with rare diseases to access accurate information. The NHS should provide information about rare conditions and signpost to support groups. Recommendation five: Protect and enhance the UK’s role in rare disease research. Ensure capacity for, and commitment to, research into rare diseases is not diminished and that the UK continues to attract investment. -
Content ArticleFor some, the day we learned of our rare disease diagnosis is a happy day. Odd, isn’t it? Imagine having your closest friends and family thinking that you are overreacting a bit, or that you are searching for some attention? It might be frustrating! Having a diagnosis can be very important, not only in order to consider medical needs, but sometimes it can also come as proof that something is happening to the body, proof to others that there is something going on. Several people across the globe, with different rare diseases, have shared their story, telling us about needing to be heard and understood.
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Content ArticleIf you have a rare disease, the search for a diagnosis can often feel like the longest detective investigation - with no clues, lots of blind alleys and, occasionally, disbelieving authorities. It may seem like things are going nowhere, even for years. Sometimes this is because information on the condition just isn’t available and not enough research has been done; other times it’s difficult to find someone knowledgeable enough to spot the signs of a rare disease. After all, these diseases are so rare that many doctors have never come across them in their careers. Either way, a person with a rare disease can end up playing investigator in their own personal medical mystery – and in some situations even end up solving the case, or devising treatment, for themselves! Read some stories from patients.
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News Article
Innovative Medicines Fund launched to fast-track drugs
Patient Safety Learning posted a news article in News
Patients in England can get early access to more cutting-edge medicines through a new fund. The Innovative Medicines Fund (IMF) works like the existing Cancer Drugs Fund (CDF), fast-tracking promising treatments, even if they are expensive and have not yet been approved for routine NHS use. It will cover potentially life-saving drugs for rare and genetic diseases. The government has allocated up to £680m a year to be shared by the funds. The IMF, like the CDF, will mean a newly approved medicine could be prescribed immediately, before final recommendations on it are drawn up by the advisory body that weighs the cost versus benefit of drugs used by the NHS - an organisation called NICE (the National Institute for Health and Care Excellence). Patients would be able to access the treatment while data is collected for NICE to determine whether the medicine is affordable and effective enough to offer more widely. A similar fund for innovative treatments - the New Medicines Fund - already exists in Scotland. Wales has a New Treatments Fund that helps pay for high-cost drugs which have been recommended as cost-effective by NICE. Experts hope funds like these will improve the lives of many who might otherwise miss out. Read full story Source: BBC News, 7 June 2022 -
Content ArticleLoeys-Dietz syndrome (LDS) is a genetic disorder affecting connective tissue, which supports, protects and gives structure to various tissues and organs. While it shares some characteristics with Marfan syndrome, LDS has distinct differences and presents unique challenges. LDS results from a variant in one of several genes, impacting multiple body systems and leading to potentially life-threatening complications. One of the most severe risks is aortic enlargement, which can cause an aneurysm or dissection. The aorta, the main blood vessel transporting blood from the heart, can become dangerously enlarged, increasing the risk of a tear that requires immediate medical attention. This article tells the story of Sharon, a 53-year-old woman from Bristol, who died in December 2022. Her family now advocates for greater awareness of LDS to prevent similar tragedies. Sharon’s death, attributed to natural causes compounded by neglect, highlights systemic failures in promptly recognising and treating her aortic dissection. When she first went to hospital with severe chest pain, Sharon faced significant delays and inadequate care in the Emergency Department. The coroner’s inquest revealed that Sharon’s care was marred by a series of systemic and operational failures. She should have been assessed within an hour of arrival and transferred to a specialist centre for cardiothoracic surgery within four hours. Instead, she remained for over twelve hours in the Emergency Department, and a further six hours passed after a CT scan finally confirmed the need for emergency surgery. Tragically, these delays prevented Sharon receiving the life-saving intervention she required. Sharon’s family believes that the initial paramedic’s decision triggered a cascade of delays, ultimately costing her life. The subsequent care was inadequate, failing to provide the urgent cardiac specialist treatment necessary for her condition. The cumulative effect of these missteps highlights a critical need for improved pathways and awareness in treating LDS and similar aortic conditions.
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Content ArticleThe third action plan setting out how the Department of Health and Social Care and delivery partners will implement the UK Rare Diseases Framework in England.
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Content ArticleCauda Equina Syndrome (CES) is a rare but serious spinal condition and if not diagnosed and treated swiftly, it can result in lifechanging injury. Nearly a quarter of compensation claims for spinal surgery in England relate to CES. This CES pathway and accompanying guidance by the Getting It Right First Time (GIRFT) programme, aims to provide healthcare professionals working in all care settings with the ability to effectively diagnose and care for patients presenting with suspected Cauda Equina Syndrome. Interactive pathway
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Content ArticleThe UK Rare Diseases Framework was published in January 2021 and set out a shared vision for addressing health inequalities and improving the lives of people living with rare diseases across the UK. This is England’s second Rare Diseases Action Plan, following the commitment to publish action plans annually during the lifetime of the UK Rare Diseases Framework. This action plan has been developed in close collaboration with delivery partners across the health system and the rare disease community. It reports on progress against the 16 actions set out in the first Rare Diseases Action Plan and announces 13 new specific, measurable actions for the next year under the framework’s priority areas and underpinning themes.
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Content ArticleA framework from the Department of Health and Social Care (DHSC) setting out a coherent, national vision on how the UK will improve the lives of those living with rare diseases. The framework outlines 4 key national priorities: helping patients get a final diagnosis faster increasing awareness among healthcare professionals better co-ordination of care improving access to specialist care, treatment and drugs.
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Content ArticleImagine you have a disease that leaves you in severe pain, and frequently means you need emergency strong opioid pain relief. But your condition is rare, and A&E staff often have very limited knowledge of your condition. And on top of that you’re black, and staff assume you’re drug seeking, and this happens over and over again. This is just one of the ways people with sickle cell disorder face discrimination when trying to access health care. Is it any wonder you’d rather avoid the health and care service than have substandard care and/or face stigmatisation?
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Content ArticleSpecialised services typically care for small numbers of patients with rare or complex conditions. They are commonly overlooked in debates around the future of the NHS. This is despite costs growing by over 50% in eight years, and now exceeding £20bn per year. The spotlight is returning, with proposals from NHS England to change how these services are planned, with power and responsibility being devolved down to new Integrated Care Boards – sub-regional structures across England. This report sets out a series of recommendations which Policy Exchange believe should underpin these reforms, including refinement of the services into more logical groupings, an expanded role for patient and carer input into service design, and stronger ministerial and financial oversight to ensure the sustainability of service delivery for the longer term.
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News Article
Thousands receive diagnosis after 60 new diseases found
Patient Safety Learning posted a news article in News
Thousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases. Children, and their parents, had their genetic code - or DNA - analysed in the search for answers to their condition. There are thousands of different genetic disorders. Having a diagnosis can lead to better care, help parents to decide whether to have more children, or simply provide an explanation for what is happening. The Deciphering Developmental Disorders study, conducted over 10 years in the UK and Ireland, was a collaboration between the NHS, universities and the Sanger Institute, which specialises in analysing DNA. Among the findings, researchers discovered Turnpenny-Fry syndrome. Jessica Fisher's son, Mungo - who took part in the study - was diagnosed with the syndrome. Jessica subsequently started an online support group for the syndrome, which is now made up of 36 families from around the world, including America, Brazil, Croatia and Indonesia. "It's devastating to learn that your child has a rare genetic disorder, but getting the diagnosis has been key to bringing us together," said Jessica. Read full story Source: BBC News, 13 April 2023 -
Content ArticleTo mark Rare Disease Day 2022, the Department of Health and Social Care has published England’s first Rare Diseases Action Plan. 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. The action plan, published today, includes 16 commitments to further improve care and has been developed in partnership with NHS England and NHS Improvement, the National Institute for Health and Care Excellence, Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council. Drawing on the UK’s strengths as a global leader in science, the Action Plan includes commitments on research, including an announcement of £40 million of new funding to the National Institute for Health Research (NIHR) BioResource, to further their work in characterising and understanding rare diseases. Actions include: Improvements to newborn screening so diagnoses can be made earlier, including a new research pilot using whole genome sequencing to screen for rare genetic conditions in healthy newborns, and improvements to the way the UK National Screening Committee makes decisions on rare diseases A new digital tool called ‘GeNotes’, which will allow healthcare professionals to quickly access information on rare diseases to improve diagnosis so they can provide the right care for their patients Developing a toolkit for virtual consultations to increase the effectiveness of videoconference and telephone clinic calls, making it easier for patients to coordinate care between multiple specialists without the need to travel long distances Supporting access to new treatments through new programmes like the Innovative Medicines Fund, while continuing to work with NICE on new treatments being assessed. Monitoring uptake of drugs for patients with rare diseases to, by measuring the number of people accessing a drug and comparing with the number expected to access it, to ensure equal access to treatment across the country. Pilot new approaches to care for patients with undiagnosed rare conditions. Following consultation with rare disease patients and their families, these pilots are currently under design, but examples could include a holistic one-stop paediatric clinic or a more targeted adult neurology clinic, or the use of virtual expert multidisciplinary teams.
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