Schlangen Miriam, Heuing Katharina
Office of the National Action League for People with Rare Diseases (NAMSE).
J Health Monit. 2023 Dec 13;8(4):7-16. doi: 10.25646/11746. eCollection 2023 Dec.
Rare diseases are a heterogeneous group of complex clinical patterns, which more often than not run a chronic course. The fact that they are rare complicates the provision of medical care for the specific diseases.
In the field of action titled 'Care, Centres, Networks' of its National Action Plan, the National Action League for People with Rare Diseases recommends the formation of a three-level, interconnected centre model. This form of care was investigated in two large research projects. It was shown that the time to diagnosis was markedly reduced. Commissioned by the Federal Ministry of Health, the expert report on the health status of people with rare diseases in Germany issued in 2023 concludes that the medical care provided to this group of people has improved markedly since the National Action Plan was introduced. The establishment of the Centres for Rare Diseases (ZSE, Zentren für Seltene Erkrankungen) is seen as the most important development. However, it is noted that there is still a lack of coordinated care provision pathways for referring patients to the appropriate facilities.
The provision of care to people with rare diseases has improved upon the implementation of the measures from the National Action Plan. In a next step, care provision pathways must be established across sector boundaries. Challenges remain in the area of psychosocial care and the long-term securing of funding for these structures.
罕见病是一组临床模式复杂的异质性疾病，往往病程呈慢性。其罕见性使得为特定疾病提供医疗护理变得复杂。
在其国家行动计划的“护理、中心、网络”行动领域，国家罕见病患者行动联盟建议建立一个三级互联的中心模式。这种护理形式在两个大型研究项目中得到了研究。结果表明，诊断时间显著缩短。受联邦卫生部委托，2023年发布的关于德国罕见病患者健康状况的专家报告得出结论，自国家行动计划出台以来，为这一群体提供的医疗护理有了显著改善。罕见病中心（ZSE，Zentren für Seltene Erkrankungen）的建立被视为最重要的进展。然而，需要指出的是，在将患者转诊至合适机构方面，仍缺乏协调的护理提供途径。
实施国家行动计划中的措施后，为罕见病患者提供的护理有所改善。下一步，必须跨部门建立护理提供途径。在心理社会护理领域以及为这些机构长期保障资金方面，挑战依然存在。
