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• To enhance your awareness and understanding of rare and undiagnosed diseases
• To recognise some of the challenges experienced by people with rare and undiagnosed diseases and their families
• To read about the development of a global nursing network for rare diseases
Rare diseases, while individually rare, are common when considered collectively, affecting about one in 17 people across their lifetime. However, there is a lack of awareness of and education about rare diseases in nursing. To address this, the Global Nursing Network Rare Diseases (GNNRD) has been launched to connect nurses from within all fields of practice and at all levels of experience, with the aim of improving the lives of people with rare and undiagnosed diseases (RUDs). The GNNRD aims to empower nurses on a global scale through leadership, knowledge exchange and skill development and to provide a platform from which they can influence policy and advocate for patients and their families at regional, national and international levels. This article provides an overview of RUDs and some of the challenges experienced by patients and their families and describes the development and aims of the GNNRD.
Nursing Children and Young People. doi: 10.7748/ncyp.2024.e1531
Correspondence Conflict of interestNone declared
Morrison Z, Stevens K (2024) Developing a global nursing network for rare diseases to enhance patient care and support. Nursing Children and Young People. doi: 10.7748/ncyp. 2024.e1531
Peer reviewThis article has been subject to open peer review and checked for plagiarism using automated software
AcknowledgementsThe authors would like to thank Sue Baker from the Rare Care Centre, Perth Children’s Hospital, Australia
Published online: 09 September 2024
Despite the relatively high incidence of rare and undiagnosed diseases (RUDs), nurses receive limited or no education on this subject, either during their preregistration training or in clinical practice, so are often unprepared for delivering care and support to this patient group and their families. The Global Nursing Network Rare Diseases (GNNRD) was developed to address this issue on a global scale. The aim of the network is to bring together nurses from across the world, building capacity through connectedness, awareness, education, leadership, research and advocacy to support people with RUDs and their families. Capacity building in health sectors has been defined as ‘an approach to the development of sustainable skills, organisational structures, resources and commitment to health improvement … to prolong and multiply health gains’ (Hawe et al 1997).
This article gives an overview of RUDs and some of the challenges experienced by patients and their families. The authors then detail the development and aims of the GNNRD.
A rare disease has been defined as a condition which affects no more than one in 2,000 patients (European Commission 2024). There are more than 7,000 identified rare diseases, with 100-300 new rare diseases reported and defined every year (Chong et al 2015, Hartley et al 2018, Department of Health and Social Care (DHSC) 2021). While individually these conditions are rare, collectively they are common, affecting about one in 17 people across their lifetime, which equates to about 3.5 million people in the UK and approximately 400 million people globally (Ferreira 2019, DHSC 2021).
RUDs are often life-threatening and life-limiting, and disproportionately affect children. It is estimated that 75% of rare diseases affect children and that 30% of children with a rare disease die before their fifth birthday (DHSC 2021). A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland between 2006 and 2016 found that of 4,044 deaths of children aged under 15 years, 59% (2,368) had an underlying rare disease; stratified by age group, in 56% (1,140/2,050) of neonatal deaths, 58% (450/778) of post-neonatal deaths and 64% (778/1,216) of deaths of children aged 1-14 years there was an underlying rare disease (Gunne et al 2020).
About 80% of rare diseases are genetic in origin, but they can also be caused by disordered immunity, allergies, infections, deterioration of body tissues or organs or disruption to fetal development (DHSC 2021). Rare diseases are chronic, are often severe and disabling, affecting all aspects of a person’s life, and may cause physical and/or dysmorphic changes or have no observable symptoms (Delaye et al 2022).
Rare diseases place a substantial financial burden on healthcare systems. For example, an investigation into the potential cost and resource effects of rare diseases on the NHS in England found that the average ten-year pre-diagnosis care cost was about £13,000 per patient (Imperial College Health Partners 2018).
• Rare and undiagnosed diseases (RUDs) are often life-threatening and life-limiting and disproportionately affect children
• Many patients with RUDs and their families endure a lengthy and challenging journey in their quest for an accurate diagnosis
• A global approach to tackling the challenges associated with RUDs is essential because of the rarity of the individual conditions
• The Global Nursing Network Rare Diseases aims to bring together nurses from across the world to support people with RUDs and their families
• By working together on a global scale, nurses will be able to leverage their individual and collective strengths and experiences to accelerate progress in improving awareness of, and care provided to, RUD communities
Despite individual rarity and diversity of symptoms, the challenges experienced by patients with RUDs and their families are similar worldwide and include the following (Genetic Alliance UK 2022):
• A long diagnostic journey – described as the ‘diagnostic odyssey’ – punctuated by misdiagnoses or long periods with no diagnosis.
• Inadequate clinical management, with fragmented and uncoordinated care.
• A lack of treatment options.
• The need for the patient and/or their family to become an expert in their own condition to educate clinicians when seeking help.
• A lack of peer support.
• A high mental health burden.
• Isolation, stigma and discrimination.
• A lack of awareness of RUDs among healthcare professionals and within society in general.
The ‘diagnostic odyssey’ is a term used to describe the lengthy and challenging journey undertaken by many patients with RUDs and their families in the quest for an accurate diagnosis; in England, this journey takes on average 5.6 years (NHS England 2024). The diagnostic journey involves referrals to various specialists – in one survey of 810 adults living with a rare disease, 39% of respondents had sought advice from three or more clinicians for their ongoing care (Molster et al 2016) – undergoing numerous tests, investigative procedures and treatments, and receiving two to three misdiagnoses before the correct diagnosis is made (Genetic Alliance UK 2021).
The consequence of misdiagnosis is mismanagement of care, for example not starting the correct treatment in a timely manner or receiving inappropriate treatment (Genetic Alliance UK 2022), and can prevent people from accessing appropriate support from, for example, health and social care services, education or workplaces and peer and patient organisations. Even when patients do receive an accurate diagnosis there is often no treatment available; only about 5% of rare diseases have at least one approved treatment (Willmer 2022). A diagnosis can, however, provide patients with terminology to describe their condition, enable the condition to become part of, rather than their whole, identity, and facilitate access to resources and information about their condition (Medics 4 Rare Diseases 2021). An accurate and timely diagnosis can also facilitate coordination of care.
Patients with RUDs and their families often become experts in their condition due to its rarity and the lack of awareness of their condition among healthcare professionals (Medics 4 Rare Diseases 2021). In a survey of 1,020 people living with or caring for a person with an RUD, only 42% of respondents ‘strongly agreed’ or ‘agreed’ that hospital staff had sufficient information about their condition; this figure dropped to 14% in relation to staff at their local general practice, 12% in relation to paramedics and emergency department staff and 13% in relation to social care professionals (Genetic Alliance UK 2021).
Traditionally, healthcare professionals provide advice and information to patients, however in the case of RUDs it may be the other way round. This can disrupt normal patterns of working and leave the healthcare professional feeling uneasy and that they are being told how to do their job. This may then lead to the creation of unintentional communication barriers between ‘expert’ patients and healthcare professionals (Medics 4 Rare Diseases 2021).
Limited awareness of rare diseases among healthcare professionals is recognised in The UK Rare Diseases Framework (DHSC 2021), which has made increasing awareness a priority. Academic and professional organisations often do not focus on education about RUDs so, in general, awareness about available information resources is limited. In addition, such resources that are available are often aimed at doctors and not specifically tailored to nurses (Tumiene et al 2022).
Nurses are the world’s largest healthcare workforce and are sometimes the only accessible healthcare professional for patients, especially in remote areas and in low- and middle-income countries (World Health Organization 2020). Nurses have a vital role in the care of patients with RUDs and their families across their lifespan including, for example, coordinating screening, providing counselling to cope with a diagnosis (or lack of one), delivering treatments and therapies, providing health education, monitoring psychosocial consequences and coordinating care.
The size of the nursing workforce, combined with the wide variety of functions of the nursing role, means nurses can pivot between clinical and non-clinical interfaces, so it is essential that they have a collective, empowered voice. However, the nursing voice has been missing from global RUD organisations, advocacy platforms and initiatives, so part of the rationale for the development of the GNNRD was to create a ‘seat at the table’ for nurses.
A global approach to tackling the various challenges associated with RUDs is essential because of the rarity of the individual conditions. By working together on a global scale, nurses will be able to leverage their individual and collective strengths and experiences to accelerate progress in improving awareness of, and care provided to, RUD communities.
The GNNRD was launched in March 2023 following a roundtable event – Connecting Nurses Globally: A Roundtable in RUD – which was held in Singapore. The two-day event, which was co-hosted by The Rare Care Centre (Perth Children’s Hospital) (pch.health.wa.gov.au/Our-services/Rare-Care-Centre), SingHealth Duke NUS Genomic Medicine Centre (www.singhealth.com.sg/patient-care/specialties-services/genomic-medicine-centre) and Curtin Singapore (part of the Curtin University global university group www.curtin.edu.au/), was attended by 33 nurses representing 25 low-, middle- and high-income countries and eight global leaders in rare diseases who worked together to devise the GNNRD’s vision, mission, objectives and priorities and to co-design the foundations of a nurse education programme.
The aim of the GNNRD is to empower nurses globally to build capacity, individually and collectively, through leadership, advocacy, knowledge exchange, skill development and research to enhance the care and support of patients with RUDs and their families. The network welcomes all nurses, including nursing students, regardless of experience, role, specialty or setting, as every nurse will likely encounter and care for people affected by RUDs during their careers.
The GNNRD has six objectives (Box 1) which are underpinned by the principles of equitable access to care, cultural safety and responsiveness and partnership with people with RUD and their families.
The network’s objectives are to:
• Connect and increase collaboration among nurses working with people affected by rare and undiagnosed diseases (RUDs) globally
• Provide nurses with resources to promote and implement comprehensive care for people with RUDs
• Inform and influence the development of nurse education resources to upskill and raise awareness of RUDs across the nursing workforce
• Strategically influence local, national and global policy and advocacy platforms
• Ensure a focus on research, clinical trials and evaluation metrics
• Connect and share expertise with other networks
The GNNRD hosts a dedicated professional networking platform at www.gnnrd.org which is run by nurses for nurses. It is a place for communication and sharing ideas, experience and resources to create a global community of practice. The platform provides a clinical query forum through which members can seek advice from other nurses, nationally and internationally, and support comprehensive, coordinated care and best practice by contributing to the collective expertise of the community. The platform also provides access to educational resources, such as model of care webinars which showcase nurse-led RUDs care across the world and advertises career opportunities and events.
The next priority for the GNNRD is to develop a framework for the structure and function of national and regional level networks to provide support, connection and leadership for nurses in their local areas, ensure efficient information exchange and avoid duplication of work. The GNNRD hosted its second annual meeting in Abu Dhabi in May 2024 to focus on this priority. Before the meeting, members attended virtual workshops to enable them to share their ideas and to provide feedback on the development of the network’s strategic framework and education programme.
The GNNRD has initiated discussions with multiple countries to create rare disease nurse networks, such as in Brazil, or to partner with existing networks through affiliations, such as with the Rare Disease Nurse Network in the UK (www.rdnn.org/). The development of these networks is intended to facilitate greater collaborative working, which in turn will increase the nursing voice in the field of rare diseases.
Development of the nurse education programme started in March 2024. The programme will take the form of ‘micro-modules’ that nurses will be able to complete individually, to fill specific gaps in their knowledge, or complete as a whole to gain a comprehensive understanding of the topic. This will allow nurses to tailor their learning to their individual needs and contribute to their continuing professional development. In addition, the GNNRD plans to provide members with opportunities to collaborate on bespoke projects, access funding pathways and scholarships and participate in research.
The GNNRD is led by a nursing reference group and a global leaders implementation group. The nursing reference group, which consists of 11 nurse leaders recruited from the initial roundtable event in Singapore, provides expert advice to guide the development and implementation of the network and the nurse education programme. The members of this group are from various countries, including the US, Singapore, Philippines, Ghana and New Zealand, reflecting the diversity of the GNNRD’s membership.
The global leaders implementation group comprises 12 members who work in a variety of senior leadership roles in the field of RUDs, such as chief executive officers, directors and presidents of large, national, European and international organisations. This group provides strategic direction and oversight for the network and the group members’ individual expertise and leadership roles connect the GNNRD to national and global RUD organisations and networks, helping to strengthen the influence of nursing in this area and to create opportunities for collaboration.
At the time of writing, the GNNRD was also in the process of establishing a lived experience advisory group made up of people living with or caring for someone with an RUD. This advisory group will not only have a crucial role in guiding the activities of the network, ensuring the patient voice remains central, but will also ensure adherence to the principle of working in partnership with people with RUDs and their families.
The GNNRD has the potential to drive improvements in nurse education and nursing practice. By building capacity through leadership, connection and education, the GNNRD will help to place nurses in a strategic position that enables them to influence local, national and global policy and advocacy platforms – areas where the nursing voice is often overlooked or missing.
The development of the nurse education programme will address the global issue of insufficient and inconsistent awareness and knowledge of RUDs. Providing nurses with knowledge about RUDs will enable them to deliver more effective care and support to children and their families. Increasing nurses’ awareness and understanding of RUDs and the associated challenges could also help to reduce the stigma, isolation and discrimination often experienced by patients and their families, as it will enable nurses to act as strong advocates and provide them with the confidence required to seek support for this population. While it is not expected that nurses will know about all RUDs and the associated resources, such education will enable them to become more ‘rare aware’ and capable of signposting patients to relevant charities, social care support and patient organisations.
Finally, the GNNRD aims to increase nurses’ awareness of research opportunities, clinical trials and treatments which will enable them to share this information with children and their families which, in turn, may increase access to clinical trials and treatments and potentially improve patient outcomes.
RUDs are rare on an individual basis but are collectively common, and all nurses are likely to care for a patient with an RUD at some point in their career. However, awareness and knowledge of RUDs among nurses and other healthcare professionals is limited. It is important that this issue is addressed given the challenges experienced by patients with RUDs and their families. Nurses have a vital role in the care of patients with RUDs and their families across their lifespan, however the collective nursing ‘voice’ has been missing from global RUDs organisations, advocacy platforms and initiatives.
The GNNRD aims to address these issues by bringing together nurses from across the world and building capacity through networking, awareness, education, leadership and advocacy to support people with RUDs and their families. The development of the GNNRD provides all nurses with an opportunity to shape the future of care for people with RUDs.
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