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Sickle cell disease can affect people of all backgrounds but is more common in African and Caribbean communities. It has become one of the fastest growing genetic conditions in England, with 250 new cases every year. People living with sickle cell disease may experience painful crises, fatigue and an increased risk of serious health complications. Despite this, the condition is often not well understood.  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. We have pulled together 8 useful resources about sickle cell disease that have been shared on the hub. They include recommendations on tackling inequalities, recognising and managing sickle cell disease in hospital, and managing pain.   1 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. 2 The King's Fund: The implicit bias of sickle cell disease Although health outcomes have improved, evidence shows that people with sickle cell still feel marginalised. Their frustrations largely stem from a perceived lack of empathy in a healthcare system that does not fully recognise their struggles. When compounded with limited treatment pathways, these poor experiences leave many feeling neglected and unsupported. This blog from CJ Nwasike discusses sickle cell health inequalities. 3 Sickle cell comparative review to inform policy report: Providing evidence-based recommendations to tackle inequalities This study analysed data across a wide range of indicators and revealed striking inequalities, which were often reflected in the experiences of patients living with sickle cell across the country. The report adds further to the urgent need to address the underlying problems affecting the quality of care for patients with sickle cell. Importantly, this comparative research shows that improvements are also needed for other severe chronic conditions, such as cystic fibrosis and haemophilia, and that lessons can be learned from successes achieved in other specialties. This report includes a set of recommendations that aim to help tackle inequalities associated with sickle cell in the UK. 4 HSSIB: Invasive procedures for patients with sickle cell disease This investigation from the Health Services Safety Investigations Body sets out to review the care of patients with sickle cell disease who need to have an invasive procedure. Invasive procedures involve accessing the inside of a patient’s body, either through an incision (cut) or one of the body’s orifices. Specifically, the investigation focused on: how haematology teams – the specialists who treat people with blood disorders – are involved and informed when a patient with sickle cell disease is treated in another area of healthcare how patients with sickle cell disease are prepared for invasive procedures how and where clinical information relevant to the patient is shared. 5 HSSIB: Management of sickle cell crisis In this investigation, 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. 6 Sickle Cell Society: 'The difference between life and death' Following on from the care failures highlighted in the 2021 report, 'No one's listening', this Sickle Cell Society report takes a deeper look at sickle cell nursing care. The findings show the need for vastly more resources, training and support in this critical area of care. The report highlights that not only is no-one listening, but that lives are still being put at risk. 7 Treating chronic pain in sickle cell disease — The need for a biopsychosocial model Clinicians are often unsuccessful at addressing chronic pain in sickle cell disease. In this perspective article in the New England Journal of Medicine, Childerhose et al. discuss how a biopsychosocial model can help capture people’s experience of chronic pain by affirming that biologic, neuropsychological, and socioenvironmental elements play a role in pain-related processes. 8 Sickle cell digital discovery report: Designing better acute painful sickle cell care The report explores the range of technology that is in place for accident and emergency clinicians, red-cell specialists, and ambulance care, to aid timely support to patients with sickle cell on their emergency hospital arrival. A number of focus groups and interviews were carried out with those that have lived experience of the disease, including patients who have suffered acute, painful sickle cell episodes during NHS A&E admissions. Research found a lack of individual care plans in place and, more broadly, no clear definition of what constitutes an actual care plan. A number of recommendations are set out in the report for the NHS and the wider healthcare system. Do you have a resource on sickle cell disease to share? We’d love to hear about it - leave a comment below or join the hub to share your own post.

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. On 7th July 2025, we were told our daughter was one of around 200 people in the world with an ultra-rare genetic brain condition - DeSanto-Shinawi syndrome (DESSH). I remember the date with uncomfortable clarity. For months before that conversation, I had reassured myself that everything would be fine. Frankie was slower than other children her age. She was late to crawl. Her words were few. There were subtle developmental differences, but nothing dramatic. I anchored to what felt safer: she had had meningitis as a baby, and developmental delay could be explained by that. Temporary. Understandable. Reversible. When bias tries to protect Even when experienced clinicians gently suggested there might be something more going on, I reframed their concerns in my own mind. I did not dismiss them openly, but internally I diluted their signal. Looking back, the cognitive biases are obvious. Anchoring bias fixed me to the meningitis explanation. Confirmation bias led me to search for reassuring signs and discount the rest. Optimism bias made the best-case scenario feel like the most probable one. Emotional bias did the rest. When it is your own child, the mind protects you. Individually rare, but collectively millions When the diagnosis came, it felt like a bomb going off in slow motion. The genetics were explained clearly. A change in a single letter of the WAC gene. One functioning copy instead of two. Reduced WAC protein, crucial in early brain development. Lifelong neurodevelopmental consequences. And then the hardest sentence - there is no medical treatment. Therapy and support, yes. But no drug to alter the biology. No realistic gene therapy on the horizon. For a condition this rare, commercial drug development is not viable. For families across the UK, the annual Rare Disease Day shines a light on this reality. Organised nationally by Genetic Alliance UK, it highlights the inequities faced by people with rare conditions: delayed diagnosis, fragmented care, limited research infrastructure and a system not designed for small numbers. Each condition is individually rare. Collectively, they affect millions. There are over 7,000 rare diseases. In that context, rarity is not marginal. It is structural. Multiple barriers to safe care Rare disease is a diagnostic safety issue, because children are often reassured repeatedly before referral. Developmental differences are attributed to variation. Early signals are softened by probability thinking. It is an equity issue, because funding and infrastructure follow prevalence and commercial viability. And it is an innovation issue, because rare disease is now reshaping how medicine thinks about treatment. After Frankie’s diagnosis, I immersed myself in the biology. I read the literature on WAC protein, studied animal models and tried to understand which pathways were disrupted and which might theoretically be adjusted. I connected with the DESSH Foundation and learned from the work of Professor Shinawi and others who had characterised the condition. The gene was known. The pathway was increasingly mapped. What was missing was treatment. Hope found in AI and existing drugs Then I came across the story of Matthew Might, a computer scientist whose son had an ultra-rare genetic condition. Rather than accepting that a genetic diagnosis was the end of the road, he treated it as the beginning. Using machine learning and large-scale biomedical data analysis, he interrogated genetic networks and drug databases. His work contributed to the development of the US National Institutes of Health Biomedical Data Translator, an open-source AI platform designed to connect genes, proteins, pathways and existing drugs. The question shifts from “Can we fix the gene?”—often impossible—to “Can we adjust the biological pathway using a safe, already licensed drug?” For rare diseases, this reframing is transformative. If a gene reduces the production of a protein, and that protein sits within a measurable pathway, then perhaps an existing medication could nudge that pathway in a favourable direction. Trialling treatments safely At Mayo Clinic, scientists including Laura Lambert and Dr Whitney Thompson began exploring whether this computational approach could be applied directly to children with specific rare conditions. In one child with DeSanto-Shinawi syndrome, AI-driven pathway analysis identified a licensed paediatric neurology drug that might plausibly increase WAC protein expression. Before prescribing anything, the team tested the drug in the cells taken from the child. WAC protein levels increased towards normal. It was not proof of cure. It was not certainty. But it was measurable biological change. After careful discussion and risk–benefit analysis, treatment was started. The developmental progress that followed was described by the child’s family as striking. It’s one person’s experience. Hope is not evidence. But hope grounded in measurable biology becomes hypothesis, and hypothesis becomes trial. Raising funds to reduce inequity The barrier is not plausibility. It is funding. Repurposed drugs are often off-patent. There is little commercial incentive to fund small, rigorous trials for conditions affecting a few hundred children worldwide. That is why Rare People – The Research Charity I set up was established. Our mission is to raise funds to support high-quality, properly designed clinical trials of AI-identified repurposed drugs for rare genetic neurodevelopmental conditions. The first funding priority is a formal clinical trial in DeSanto-Shinawi syndrome, with ethics approval in place in the United States and work underway to enable participation from children outside the US, including in the UK. Rare diseases can shine a light on wider possibilities Beyond one charity and one condition, something larger is emerging. Rare disease research is demonstrating the practical power of AI in medicine, not as hype but as structured, hypothesis-generating science. AI can interrogate millions of data points across gene networks and pharmacology, surfacing plausible connections that no individual clinician or researcher could reasonably synthesise alone. Used responsibly, with transparent governance, peer review and rigorous trial methodology, these tools can strengthen rather than threaten patient safety. Rare diseases are showing us that treatment may become more personalised, pathway-driven and responsive to measurable biological markers. They are challenging us to design systems that do not overlook small populations. They are exposing how cognitive bias operates quietly even in experienced clinicians. And they are demonstrating that when families, scientists and clinicians collaborate across borders, innovation can move faster than traditional commercial pathways allow. Frankie Frankie is a joyful, loving little girl. I would not change who she is. But I do want her to have the same opportunities, the same freedom to dream and the same access to scientific ambition as children with common conditions. Equity in healthcare must include those with the rarest diagnoses. If we build a system capable of recognising rare disease earlier, mitigating cognitive bias, and harnessing AI safely and ethically, we build a safer system for everyone. Photo shows Rob holding Frankie, both looking and smiling at the camera Share your insights Have you been affected by any of the issues raised in this blog? Do you or a loved one have a rare disease, or perhaps you work with people who do. If you have insights to share around rare diseases and patient safety, you can comment below (sign up first for free) or email the team at [email protected]

When Stuart Ball previously wrote for the hub, he described how his wife Rachel’s death was not the result of one single missed appointment or one incorrect clinical decision. It was the result of fragmentation—significant red flags recorded across time and across specialties, but never structurally reviewed together. Since then, Rachel’s case has been raised through a Parliamentary Question, Stuart has received written replies and there has been renewed discussion around the NHS 10 Year Health Plan. The Plan sets out a long-term ambition to move from reacting to illness towards predicting and preventing it. It speaks about digital integration, genomics and a single patient record. In this follow up blog, Stuart explains why this direction of travel is welcome, but how ambition and infrastructure are not the same as accountability. Stuart asks for an accountable model, with clear ownership, for cumulative hereditary risk review across time and specialties. "Rachel’s Rule: Protecting Today, For Tomorrow" In recent Parliamentary correspondence, it has been confirmed that hereditary cancer services are delivered through the Genomic Medicine Service, with referral based primarily on clinical and family history criteria, and with clinicians expected to maintain appropriate knowledge. The 10 Year Health Plan has been cited as the framework for longer term genomic expansion and reform. These responses clarify direction and capability. However, they do not clearly describe a mandated, accountable model for cumulative hereditary risk review across time and specialties. Rachel’s case was not a technology failure Rachel did not lack access to doctors. She did not lack access to records. She did not lack access to treatment. What she lacked was a defined point where someone was responsible for stepping back and asking: Does this pattern mean something more? She was diagnosed with ovarian cancer at a young age. Later, she developed a second primary ovarian cancer, and years later breast cancer. She had multiple liver hamartomas and ongoing clinical indicators recorded across different specialties. Each event was documented. None were structurally joined. There was no named owner for cumulative hereditary risk recognition. There was no mandated checkpoint requiring a review of the whole picture. And after diagnosis, there was no single, coordinated surveillance plan owned by one accountable role. This was not about individual clinicians failing. It was about system design. The 10 Year Plan: capability versus structure The NHS 10 Year Health Plan outlines important ambitions: Expansion of genomic capability. Better data integration. Personalised risk information. Digital coordination through shared records. These are enabling tools. But tools do not automatically create safety standards. A record is not a review. A risk score is not accountability. Current public responses confirm that hereditary cancer services operate through the Genomic Medicine Service, with referral based on clinical and family history criteria, and with clinicians responsible for maintaining knowledge. That describes capability and professional expectation. It does not clearly describe: A mandated longitudinal hereditary risk review checkpoint. A named accountable owner when cumulative red flags emerge. An automatic re-review trigger after second primary cancers. A defined operational standard for coordinated post-diagnosis surveillance. Without those elements, expanded genomics may still sit within a structurally fragmented system. The gap before diagnosis In Rachel’s case, hereditary risk was not recognised early enough. Importantly, she did not have a strong family history. Her risk lay in the pattern of events over time. If risk recognition depends heavily on family history or opportunistic identification, patients without obvious family clustering remain vulnerable. A structured, repeatable review process—triggered by defined criteria such as early cancer, second primaries, unusual pathology, or cross-specialty indicators—introduces a simple but powerful safeguard: Someone must pause. Someone must review the whole picture. Someone must document a decision. Ownership reduces diffusion of responsibility. The gap after diagnosis Diagnosis does not end the safety question. In many cases, it increases the need for coordination. In cancer, the consequences of missed hereditary risk often unfold over years. Surveillance can become fragmented across hospitals, clinics and appointment systems. Imaging may focus on one organ or site without stepping back to ask whether a broader, coordinated plan is required. Rachel received treatment and follow-up. At the time, we believed the cancer had been dealt with. Six years later, it returned and she died. Earlier recognition does not guarantee different outcomes in every case. But delay reduces available options. Fragmented surveillance compounds risk. That is why Rachel’s Pathway calls for: One named owner for surveillance coordination. One written, shared plan across services. Defined re-review points when new pathology emerges. Clarity about what surveillance is intended to detect, and what it is not. This is not about demanding universal scanning. It is about preventing predictable fragmentation. Why interim standards matter The 10 Year Plan is long term. Delivery will be phased. Large reforms are subject to operational pressures and parliamentary cycles. Meanwhile, patients continue to present. In safety critical systems, known vulnerabilities are usually mitigated while reform is being built—not left exposed until infrastructure is complete. An interim standard does not compete with the 10-Year Plan. It complements it. It introduces structural accountability now, while contributing to durable long-term design. The central question This ultimately comes down to one question: Who owns cumulative hereditary risk recognition and coordinated surveillance when patterns emerge across time and across specialties? If the answer is “all clinicians,” responsibility risks being diluted. If the answer is “no one specifically,” then the vulnerability remains. Clear ownership is not a technological issue. It is a patient safety issue. Rachel’s Rule is not a rejection of genomic ambition. It is a call to translate ambition into accountable structure: One owner. One review. One coordinated plan. That is how patterns stop being missed. That is how fragmentation is reduced. And that is how long-term ambition becomes real patient safety. Further information about the full proposals for Rachel’s Rule and Rachel’s Pathway can be found at rachelsrule.org. If you would like to support the campaign, please consider signing and sharing the petition at change.org/RachelsRule. Further reading on the hub: How one woman’s missed referrals exposed a systemic gap in hereditary cancer care: Why I'm campaigning for Rachel's Rule 10 Year Health Plan for England: fit for the future Rachel's Rule: Signs in plain sight by Stuart Ball Top picks: Rare diseases

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

For 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

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.

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

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