The UK Strategy for Rare Diseases, published in 2013, was created to recognize and respond to the needs of patients, families, and caretakers affected by rare diseases (RD). The strategy centers around five areas: patient empowerment, identification and prevention, diagnosis and early intervention, coordination in the care of patients and their support network, and the role of research.
Due to the intertwined nature of these aims, and the fact that the patient forms the focus of this strategy, suggestions for improvement have been given for some aspects of the plan which deal directly with patients (diagnosis, treatment, and social support), based on my experience with a rare disease patient being treated at a clinic.
I met Adam at an Alstrom’s syndrome clinic. His condition had caused blindness, deafness and a struggle with weight throughout childhood. It became apparent that the provision of care for those with rare diseases is markedly different to patients with a common disease. When Adam was finally diagnosed, the delay had caused much distress for him and his family. It is therefore apparent that the point of diagnosis is one where improvements in healthcare provision can have an impact on patients and carers.
Clinicians, researchers, patients, and students should be involved in campaigns that raise awareness of RDs.
Delayed diagnosis is due to many reasons, lack of awareness being one. It is vital that students leave school with at least an idea of when to suspect an RD, and knowledge of appropriate referral pathways, via lecture-based teaching, clinical teaching, and inter-professional teaching such as offering RD information days for non-specialists. This could lead to transference of information from specialists to non-specialists, but also vice versa in terms of where gaps in knowledge and healthcare provision exist so specific action may be taken to improve service.
Clinicians, researchers, patients, and students should be involved in campaigns that raise awareness of RDs; information should be given by doctors to patients and their families to ensure they get a balanced view of their condition; and public resources such as medical websites should be edited to offer up-to-date information.
RDs often have a paucity of information, regarding history. This leads to uncertainty and delayed diagnoses. The role of continuing research is therefore important. Research into genetic changes in patients and indicators of disease may provide avenues for developing affordable diagnostic tests and treatments for RDs.
Efficient diagnosis also depends upon coordination between primary health services and specialist centers. Research into communication between different branches of medicine involved in the patient’s pre-diagnosis care would also quicken the process. The advent of computerized patient databases means that information can be transferred quickly. Systems which ensure patients with suspected RDs are fast-tracked to specialist centers could be implemented.
Research plays an important role in treatment, whether through repurposing or formulating new therapeutics. Combined with early diagnosis, this can lead to improved outcomes. Patient access to treatment is unequal throughout the country however; improving communication between primary and tertiary care can rectify this. Advances in telemedicine means that online consultations and quick access to patient records is possible, which will allow more care equality.
The creation of specialist RD centers by clinicians and researchers means that patients have access to disease-specific care.
The creation of specialist RD centers by clinicians and researchers means that patients have access to disease-specific care, with information sent to less-specialized healthcare centers from this central point. Creating more satellite units would also lessen inequality and raise awareness.
Patients and families are often knowledgeable about their illness. Clinicians should encourage patients’ learning about their illnesses, such as by ensuring that patients are up-to-date on research. Patients may wish to partake in research, which would allow for direct interaction with researchers. The small number of RD patients hinders national research, so researchers and clinicians should collaborate internationally.
Patient empowerment is a key principle of the strategy, as patients must have community support. It is therefore paramount that patients are involved in disease networks. Clinicians should inform patients of charities, support groups, and communities.
Another implication of patient involvement in support networks is that they have a pathway with which to influence fundraising and government spending on RDs. This can be coordinated to ensure the government keeps true to the UK strategy via petitions and pledge cards as well as raising money for research and treatment.
It is also recommended that research be done into lifestyle adjuvants and their provision to accommodate patients, with clinicians encouraging patients and informing them of the options they have in terms of adaptations. RD patients have a high prevalence of mental health issues, and thus clinicians should liaise with mental health services to ensure patients are coping with the psychological impact.
The UK Strategy for Rare Diseases aims to have fulfilled its commitments by 2020. It is apparent that there have been some improvements, particularly in patient diagnosis and care, but the science and treatment of many of these diseases remains scant. To allow for scientific and clinical progress, researchers and clinicians should develop the strategy into a worldwide initiative.
It is also very important to remember that the patient is the focal point of these aims. It follows, therefore, that the ultimate aim in RDs is to ensure that patients are not defined by them, but despite them.