The UK Strategy for Rare Diseases，于2013年出版，是为了识别和应对受稀有疾病（RD）影响的患者，家庭和看护人的需求。该战略围绕五个领域：赋权，识别和预防，诊断和早期干预，患者的护理及其支持网络的协调以及研究的作用。
由于这些目标的交织性质以及患者形成了这种策略的重点的事实，已经为直接处理患者（诊断，治疗和社会支持）的计划的某些方面提出了改进建议根据我在诊所接受治疗的罕见病患者的经验。
诊断
我在一个阿尔斯特罗姆综合症诊所。他的病情在整个童年时期引起了失明，耳聋和与体重的斗争。显然，为患有罕见疾病的人提供护理与常见疾病患者明显不同。当亚当最终被诊断出时，延误给他和他的家人造成了极大的困扰。因此，很明显，诊断点是医疗保健提供的改善可能会对患者和护理人员产生影响。
临床医生、研究人员、患者和学生should be involved in campaigns that raise awareness of RDs.
延迟诊断是由于许多原因，缺乏意识是其中之一。至关重要的是，学生至少要对何时怀疑RD以及通过基于讲座的教学，临床教学和专业教学（例如为非专家提供RD信息日）来了解何时怀疑RD以及适当推荐途径的知识至关重要。。这可能导致信息从专家转移到非专家，但也反之亦然，就知识和医疗保健提供的差距而言，因此可以采取特定的行动来改善服务。
临床医生、研究人员、患者和学生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通常会缺乏有关历史的信息。这导致不确定性和延迟诊断。因此，继续研究的作用很重要。对患者遗传变化和疾病指标的研究可能为开发负担得起的RDS治疗提供途径。
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.
Treatment
无论是通过重新利用还是制定新的治疗剂，研究在治疗中都起着重要作用。结合早期诊断，这可以改善结果。然而，在全国范围内，患者接受治疗是不平等的。改善初级和三级护理之间的沟通可以纠正这一点。远程医疗的进步意味着可以在线咨询和快速访问患者记录，这将允许更多的护理平等。
临床医生和研究人员创建专家RD中心意味着患者可以接受特定疾病的护理。
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.
Social Support
赋予患者权能是该策略的关键原则，因为患者必须获得社区支持。因此，最重要的是患者参与疾病网络。临床医生应告知患者慈善机构，支持团体和社区。
患者参与支持网络的另一个含义是，他们有一条影响筹款活动和政府支出RD的途径。可以协调这一点，以确保政府通过请愿和承诺卡忠于英国战略，并为研究和治疗筹集资金。
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.
Conclusion
英国稀有疾病的战略旨在到2020年履行其承诺。显然，已经有所改善，尤其是在患者诊断和护理方面，但是对许多疾病的科学和治疗仍然很少。为了允许科学和临床进步，研究人员和临床医生应将该战略制定为全球倡议。
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.
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