Objective

The article reviews the study of rare diseases and their nomenclature, emerging government policies and initiatives, and the concerns voiced by the modern rare disease communities.

An interpretive model is then presented for the bioarchaeological interpretations of individuals with paleopathological evidence of rare diseases.

Materials

In demonstration of the application of the proposed framework, we evaluate the skeletal remains of an adult female (EZ 3-7-1) excavated in the 1980s from the Middle Woodland (50BCE–CE400) context of the Elizabeth site (11PK512) in the lower Illinois Valley, USA.

Methods

We use macroscopic examination methods, as well as cementochronology, to put forth the osteobiographical profile.

Results

The skeletal manifestations observed suggests limitations of major life activities, which would have increased in severity throughout the life course of EZ 3-7-1.

Conclusions

The study of EZ 3-7-1 demonstrates how an osteobiography, centering on the lived experiences and limitations throughout a life course, can allow for a deeper appreciation for life in the past.

Significance

By considering the perspectives of the modern rare disease community in the bioarchaeological methodology, research can include the nuanced impacts of the disease on life experiences and varying societal perceptions and attitudes, as well as raising awareness and advancing contemporary perspectives on impairment and disability.

Limitations

Without ample contextual evidence, there are limitations in making conclusions regarding social identity and disability.

Suggestions for further research

This framework should be applied to other rare diseases in a variety of contexts to further test its functionality.

中文翻译：

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雷鸣般的蹄声和耀眼的斑马：一个整合了古病理学中当前罕见病观点的模型

客观的

本文回顾了罕见病及其命名法的研究、新兴的政府政策和举措，以及现代罕见病社区所表达的担忧。

然后提出了一个解释模型，用于对具有罕见疾病的古病理学证据的个体进行生物考古学解释。

材料

为了证明所提出框架的应用，我们评估了 1980 年代从伊丽莎白遗址 (11PK512) 的中部林地 (50BCE-CE400) 环境中挖掘出的成年女性 (EZ 3-7-1) 的骨骼遗骸。美国伊利诺伊州下游山谷。

方法

我们使用宏观检查方法以及牙骨质年代学来提出骨传记概况。

结果

观察到的骨骼表现表明主要生命活动的局限性，在 EZ 3-7-1 的整个生命过程中严重程度会增加。

结论

对 EZ 3-7-1 的研究表明，骨传记如何以生命历程中的生活经历和局限性为中心，可以让人们更深入地了解过去的生活。

意义

通过在生物考古学方法中考虑现代罕见病社区的观点，研究可以包括疾病对生活经历和不同社会观念和态度的细微影响，以及提高认识和推进当代对损伤和残疾的看法。

限制

如果没有充分的背景证据，就社会认同和残疾做出结论是有局限性的。

进一步研究的建议

该框架应在各种情况下应用于其他罕见疾病，以进一步测试其功能。