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Over 6,000 rare diseases are characterised by a wide range of conditions and symptoms that can vary not only between diseases but also among individuals with the same condition. 72% of rare diseases are genetic, and nearly one in five cancers is classified as rare. Some common symptoms may overlap with those of rare diseases, which can make diagnosis challenging and delay access to appropriate care. These conditions can impact daily life due to their long-term, evolving nature. At Patient Safety Learning we believe that sharing insights and learning is vital to improving outcomes and reducing harm. That's why we created the hub; to provide a space for people to come together and share their experiences, resources and good practice examples. To support Rare Disease Day, we have pulled together 16 resources, including reports, guidelines and blogs, to raise awareness of the challenges faced by people with a rare disease, and to support healthcare professionals and patients and their carers. 1 England Rare Diseases Action Plan 2025 The 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. 2 How one woman’s missed referrals exposed a systemic gap in hereditary cancer care: Why I'm campaigning for Rachel's Rule When Stuart Ball's wife Rachel passed away in August 2025, she was just 47 years old. Her death was not inevitable. It was the result of years of missed opportunities—signs that were there in plain sight but never joined together. What happened to Rachel should never happen to another family. Stuart shares Rachel's story and tells us why he is campaigning for Rachel's Rule—a call for a system safeguard that ensures hereditary risks are not missed. 3 National Organization for Rare Disorders: Rare Disease Database for patients and families The National Organization for Rare Disorders (NORD)’s Rare Disease Database provides brief introductions for patients and caregivers to specific rare diseases. 4 OrphanAnesthesia: Patient Safety Card 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. 5 Highlighting Loeys-Dietz syndrome and the need for awareness Loeys-Dietz syndrome (LDS) is a genetic disorder affecting connective tissue, which supports, protects and gives structure to various tissues and organs. 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. 6 Rare care matters: The struggle to access diagnosis and care for rare autoimmune rheumatic disease patients The 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 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. 7 “No one would believe me”: A common feeling for people living with a rare disease 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. 8 GIRFT - Spinal surgery: National suspected cauda equina syndrome (CES) pathway 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 Sickle Cell Society: Standards for the clinical care of adults with sickle cell disease in the UK These standards for the clinical care of adults with sickle cell disease were produced by the Sickle Cell Society in collaboration with a broad multi-disciplinary group of healthcare providers, patients and support groups. 10 HSIB: Management of sickle cell crisis In this investigation, the Health Services Safety Investigation Body (HSSIB) used a real patient safety incident to explore how sickle cell crises are managed within hospital settings. In particular, the investigation considered: the knowledge nursing staff may have about the care of patients in sickle cell crisis how patient-controlled analgesia (PCA) – where a patient can use a device to give themself doses of pain relief medication – is considered holistically, such as monitoring the patient and staff workload. 11 Medication supply issues: Mast cell activation syndrome (MCAS) Joy Mason is the Director of Operations, Services and Engagement at Mast Cell Action. In this blog, Joy tells us more about Mast Cell Activation Syndrome and how medication supply issues are impacting people’s lives and causing avoidable harm. 12 Neonatal herpes – more common than you think? Neonatal herpes is a rare, and potentially fatal, disease which usually occurs in the first four weeks of a baby's life. It is caused by the same virus that causes cold sores and genital infections – the herpes simplex virus (HSV). Early recognition and treatment has been shown to significantly improve babies' chances of making a full recovery. Sarah de Malplaquet, Chief Executive and Founder of the Kit Tarka Foundation, explains why they are joint-funding new research into neonatal herpes, and how the findings could help save many lives. 13 What can I do to prevent my baby getting neonatal herpes? (Kit Tarka Foundation) There are some simple things you can do to help prevent babies from catching herpes infections. These include regular hand washing, covering cold sores and not kissing babies who are not your own. The Kit Tarka Foundation provide information on neonatal herpes and how to keep your baby safe. 14 Creon shortages: “It’s just another thing patients with cystic fibrosis could do without” There is a current shortage of Creon, a pancreatic enzyme replacement therapy. Sophie, a patient with cystic fibrosis, tells us about her experience of trying to get hold of Creon and the challenges she has faced. 15 From diagnosis to system change: what rare disease is teaching us about safety, bias and AI Professor Rob Galloway is an Emergency Medicine Consultant and Founder of the charity Rare People. In this article, Rob talks about his daughter’s recent diagnosis of a rare genetic condition. He describes the barriers to safe and equitable care for people with rare diseases, and his hopes for future treatment development, supported by AI. 16 Equity for Rare: Delivering fair healthcare systems for people affected by rare conditions The Genetic Alliance UK 'Equity for Rare' report highlights the inequities the rare conditions community experiences, and found that equity broadly means ensuring that people with rare conditions can navigate the healthcare system with the same dignity and efficacy as those with common conditions. It's gives five recommendations for the Government. For more resources, take a look at our Rare diseases area of the hub. Do you have a resource or story to share about rare diseases? Could your insights or experiences help improve patient safety? Leave a comment below (join the hub for free first) or contact us at [email protected].

When Stuart Ball's wife Rachel passed away in August 2025, she was just 47 years old. Her death was not inevitable. It was the result of years of missed opportunities—signs that were there in plain sight but never joined together. What happened to Rachel should never happen to another family. Stuart shares Rachel's story and tells us why he is campaigning for Rachel's Rule—a call for a system safeguard that ensures hereditary risks are not missed. "Rachel’s Rule: Protecting Today, For Tomorrow" From childhood, Rachel faced several health challenges, including asthma, massive urticaria and recurring skin lesions. In 2006, she was diagnosed with her first ovarian cancer. She was still young, and while her gynaecological care was appropriate for the time, there was no referral for genetic assessment. The key moment came in 2012, when a second ovarian cancer and multiple liver hamartomas were discovered—clear indicators of an inherited syndrome. This was the point at which a referral to clinical genetics should have been made and early identification could have changed the course of her care. By 2019, after more than a decade of fragmented treatment, Rachel was diagnosed with breast cancer. Only then was a referral finally made. Cowden Syndrome was confirmed. But by this stage, the damage was already done. Surveillance was started for some organs, but still not for others, including her liver—the very place her cancer would later return. In 2024, she developed advanced breast cancer recurrence with liver metastases. It was treatable, but not curable. Less than a year later, she was gone. A caring, proactive patient failed by a fragmented system Rachel did everything right. She attended every appointment, followed every piece of advice, and even chose preventative surgery to reduce her risk of further cancers. She trusted the system completely. But the system was not joined up. At every stage, she was seen by good people working within a structure that divided her symptoms into separate boxes—each specialist treating their own part, without anyone looking at the whole picture. The NHS has the expertise, the science and the technology to detect hereditary cancer risk early, but without an integrated approach, patients like Rachel fall through the gaps. Her death is not just a personal loss but a case study in systemic fragmentation—how information sits in silos, how guidelines are inconsistently applied and how, without oversight, warning signs can go unnoticed until it’s too late. From personal loss to systemic change In the months following her death, I channelled my grief into something constructive: a campaign called Rachel’s Rule: Protecting Today, For Tomorrow. Its aim is simple—introduce annual hereditary risk reviews for patients with multiple red-flag cancers or associated health issues. These reviews would act as a safety net within the NHS, ensuring that patterns like Rachel’s are recognised early. They would trigger automatic referrals to genetic services when warning signs appear, standardise practice across Trusts and raise public awareness so families know to ask for hereditary risk checks. Around one in ten cancers have a hereditary component. NICE guidelines exist, but application is inconsistent. The NHS Genomic Medicine Service provides world-class infrastructure, but patients can only benefit if they are referred in the first place. Rachel’s Rule would bridge that gap—turning awareness into action and preventing future tragedies. The human story behind the campaign Rachel wasn’t a statistic—she was a wife, sister, daughter and aunt, as well as a much-loved teaching assistant known for her warmth and humour. Even through years of treatment, she never lost her ability to lift others. At her school, Bishop Rawstorne, colleagues remember her laughter and empathy. At home, she made every season brighter: decorating for Christmas, photographing sunsets, planting marigolds in memory of her father. She found beauty in ordinary moments and shared it generously with others. To everyone who knew her, Rachel was the heartbeat of the room. Losing her has left a silence that can’t be filled—but in that silence there is also purpose. Her life now speaks through the campaign that bears her name. Learning from Rachel’s story Patient safety begins with pattern recognition. Just as Martha’s Rule was created to empower families to call for a second opinion, Rachel’s Rule calls for a system safeguard that ensures hereditary risks are not missed. It asks a simple question of our health system: when a patient has multiple serious illnesses or cancers under the age of 50, who is responsible for joining the dots? Rachel’s story exposes what happens when that responsibility is no one’s job. She represents thousands who may be living with undiagnosed hereditary syndromes—people who trust the system, attend every appointment, yet are never given the full picture. Protecting today, for tomorrow The legacy of Rachel’s life is more than memory — it’s momentum. Her campaign is supported by her local MP who continues to raise the issue nationally, and by a number of organisations that have already pledged their support. The Change.org petition is steadily growing, each new signature representing another voice calling for change, another family determined to prevent future harm. Earlier answers save lives. Genetic testing protects families. Structured hereditary risk reviews would turn hindsight into foresight, ensuring that what happened to Rachel will not happen again. You can read more and support the campaign at www.change.org/RachelsRule and download the campaign poster attached below. Rachel's Rule poster.pdf Because the best way to honour her story is to make sure it never needs repeating. Further reading on the hub: From ambition to accountability: why hereditary risk needs ownership now

In this opinion piece, Becky Tatum discusses how genetic profiling of patient's tumours can lead to more personalised cancer therapy/treatment options with better outcomes. The risks of targeting the wrong cancer Cancer patients often have to undergo rigorous, exhausting treatments and drug regimes, without achieving the improvements or remission that they seek. This is because certain therapies only work on a particular subset of cancers, based on the specific genetic mutations that the cells contain – if the cancer does not contain such mutations, the drug may be pointless. Moreover, patients who lack the mutation targeted by a drug will not only fail to benefit, but can actually be harmed by inappropriate targeted therapies.[1] Therefore, it is essential that cancer treatments are tailored to each patient’s cancer, to save not only NHS money, but personal suffering too. Biobanks and genetic profiling In the UK (and worldwide), there are many tissue biobanks that contain tumour samples for research purposes, such as the Manchester Cancer Research Centre Biobank which brings together organised tissue sample collection across four NHS Trusts under one centralised framework.[2] Biobanks provide an essential service to scientists seeking to perform research on tumour samples to discover new genetic variants or ‘biomarkers’ that could serve as targets for new cancer therapies. In 2013, Genomics England was established to deliver the 100,000 Genomes Project, which aimed to sequence 100,000 whole genomes from NHS patients with rare diseases and common cancers.[3] Tumour data from this project has been used for pan-cancer genome analysis, which looks at the complex patterns of genetic changes specific to different tumour types. In cancer, tumours accumulate genetic mutations as the cancerous cells divide, grow and, in some instances, spread to other parts of the body (metastasise). The resulting tumour cells, although all derived from the patient’s own body cells, may have a very different genetic profile to the parent cells that they originated from. Indeed, as a result of the random process of mutation, the cells of the same cancer could all be different, something called ‘tumour heterogeneity’. A study by Jones et al. in 2015 strongly suggests that cancer tumour genomes should be compared to genomes from noncancerous tissue from the patient so doctors can be sure any mutations found are unique to the cancer. Moreover, when sequenced, not only do the cells in a tumour have multiple genetic changes compared to the patient’s normal body tissue, but tumours of different organ or tissue types also differ genetically from one another – each has its own genetic ‘fingerprint’ and unique pattern of biomarkers. Cancer of the breast, for instance, will have a specific suite of genetic mutations, such as in the well-known BRCA1 and BRCA2 genes, whilst there are different mutations that are characteristic of bowel cancer, such as in the APC gene. Identifying the primary cancer Significantly, as each tumour type has its own genetic profile, it is now possible to tell whether a tumour in a particular part of the body is a primary cancer of that tissue/organ or whether it has metastatised from elsewhere. This builds on traditional oncological investigative procedures. For instance, in 2010 a woman with primary colonic adenocarcinoma discovered a mass in her breast, which upon having a biopsy did not appear colonic in origin (and colon metastases are extremely rare), but after immunohistochemical stains it was eventually revealed that the breast tumour was indeed a colon cancer.[4] Genetic sequencing of the tumour would likely have yielded a much prompter accurate diagnosis. This knowledge of what type of cancer the tumour really is means that drugs to combat it can be prescribed more accurately – and could give a more positive treatment outcome – which would not have been known unless the tumour DNA had been sequenced. Therefore, genetic profiling of a patient’s tumour is extremely important to ensure they receive the correct treatment. Precision medicine and the impact on the patient This all forms the basis of what is known as precision medicine. Precision medicine is ‘an approach to medical care in which disease prevention, diagnosis and treatment are tailored to the genes, proteins and other substances in the patient’s body’.[5] The concept of precision medicine isn’t new, but recent technological advances have meant that this area of research has progressed tremendously in the last decade. Using next generation genetic sequencing technologies, researchers have discovered that two people with the same type of cancer may not have the same mutations, which will affect how successful the cancer treatment will be. As researchers learn more about the DNA changes that drive cancer, they are better able to design promising treatments – usually small-molecule drugs or monoclonal antibodies – that target these genetic regions and proteins. Intermountain Healthcare in the US has been using the power of new genomic technology to conduct research to advance precision medicine, such as looking at the role of tumour heterogeneity and genetic evolution in cancer.[6] At present, genomic analysis isn’t routinely carried out on all cancer tumours in the UK, but as the technology becomes more available and less expensive, it is likely that it will be employed more by clinicians. Promisingly, studies have shown that precision medicine significantly improves survival for patients with advanced cancer when compared to control patients who received conventional chemotherapy, without the increasing associated costs.[7] From a patient’s perspective, it is not hard to see how precision cancer medicine will be of huge benefit. Tumour genetic profiling tells you the drugs the patient is most likely to be responsive to out of multiple possible treatments. Precision medicine saves the sufferer unnecessary pain, time, emotional energy and false hopes. For patients with advanced or metastatic cancer, which can be extremely debilitating, the genomics-based approach appears to be a more viable, and perhaps superior, option compared to standard investigations and treatments. It is, however, important to consider any potential risks to the patient of targeted therapies that are based on genetic profiling. Since the patient’s tumour is genetically sequenced to find targets for treatment, there is a slight risk to the privacy of personal information – genetic information from the patient’s health record may be obtained by people outside of the medical team, such as insurance companies, so it is very important that laws are in place to protect such data from potentially being misused. Final thoughts Precision medicine is ultimately about matching the right drugs to the right patients. Genetic profiling of tumours reveals targeted therapy options that are most likely to be effective against a patient’s specific cancer. All cancers are genetically unique as a result of the mutations they accumulate. Whether genetic profiling is used to determine the true origin of a tumour (perhaps a primary cancer that has metastasised to a completely different organ) or to reveal how one person’s breast cancer (for instance) is different to next persons, this technique allows for much more personalised treatment options than are conventional. As precision medicine is geared to the uniqueness of a patient’s own DNA profile, clinicians can create more promising treatments matched to each individual than ever before, offering hope to people in their darkest hours. Becky Tatum References: 1. Gagan, J., Van Allen, E.M. ‘Next-generation sequencing to guide cancer therapy’. Genome Medicine, 2015; 7(80). https://doi.org/10.1186/s13073-015-0203-x 2. Manchester Cancer Research Centre. (updated 2021) ‘About the MCRC Biobank’. [online] Available at: https://www.mcrc.manchester.ac.uk/research/mcrc-biobank/about-the-mcrc-biobank/ 3. Genomics England. (updated 2021) ‘About Genomics England’. [online] Available at: https://www.genomicsengland.co.uk/about-genomics-england/ 4. Shackelford, R. et al. ‘Primary Colorectal Adenocarcinoma Metastatic to the Breast: Case Report and Review of Nineteen Cases’. Case Reports in Medicine, 2011(738413). https://doi.org/10.1155/2011/738413 5. National Cancer Institute. (updated 2021) ‘Biomarker testing for cancer treatment’. [online] Available at: https://www.cancer.gov/about-cancer 6. Intermountain Healthcare. (updated 2021) ‘Precision Genomics’. [online] Available at: https://intermountainhealthcare.org/services/genomics/ 7. Nadauld, L. et al. ‘Precision medicine to improve survival without increasing costs in advanced cancer patients’. Journal of Clinical Oncology, 2015; 33(15).