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Found 19 results
  1. Content Article
    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.
  2. Event
    Innovative 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
  3. News Article
    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
  4. Event
    This 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
  5. Content Article
    Specialised 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.
  6. News Article
    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
  7. Content Article
    Imagine 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?  
  8. Content Article
    Cauda 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.
  9. Content Article
    The 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.
  10. Content Article
    A 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.
  11. Content Article
    To mark Rare Disease Day 2022, the Department of Health and Social Care has published England’s first Rare Diseases Action Plan.
  12. Content Article
    Dalila, who lives in Cardiff, was diagnosed with systemic lupus erythematosus during childhood. In this blog for Lupus Awareness Month she talks about her experiences with the condition and the differences in the care she’s received between England and Wales.   The experience of people like Dalila is why the Rare Autoimmune Rheumatic Disease Alliance are calling for change in how people with rare autoimmune rheumatic diseases are cared for in Wales.  They are calling for: A properly commissioned specialised centre for rare autoimmune rheumatic diseases in Wales.  A network, where this specialised centre can support local hospitals to deliver better care.  Urgent action to resolve workforce issues in rheumatology in Wales.
  13. Content Article
    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.
  14. Content Article
    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.
  15. Content Article
    While 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.
  16. Content Article
    Transparent 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.
  17. Content Article
    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.
  18. Content Article
    For 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.
  19. Content Article
    If 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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