Department of Anthropology, Brown University, Box 1921, Providence, RI, 02912, USA.
School of Human Evolution and Social Change, Arizona State University, PO Box 872402, Tempe, AZ, 85287-2402, USA.
Int J Paleopathol. 2021 Jun;33:196-208. doi: 10.1016/j.ijpp.2021.04.010. Epub 2021 May 10.
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.
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.
We use macroscopic examination methods, as well as cementochronology, to put forth the osteobiographical profile.
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.
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.
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.
Without ample contextual evidence, there are limitations in making conclusions regarding social identity and disability.
This framework should be applied to other rare diseases in a variety of contexts to further test its functionality.
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，以及现代罕见病社群表达的关切。然后提出了一个解释模型，用于对具有罕见病病理证据的个体进行生物考古学解释。
为了展示所提出框架的应用，我们评估了一位成年女性（EZ 3-7-1）的骨骼遗骸，她是在 20 世纪 80 年代从美国伊利诺伊州下河谷伊丽莎白遗址（11PK512）的中伍德兰时期（公元前 50 年至公元 400 年）发掘出来的。
我们使用了宏观检查方法，以及骨水泥年代测定法，提出了骨骼生命史概况。
观察到的骨骼表现表明，EZ 3-7-1 的主要生命活动受限，这些限制在其生命过程中会逐渐加重。
对 EZ 3-7-1 的研究表明，如何通过以生命过程中的生活经历和限制为中心的骨骼生命史研究，可以更深入地了解过去的生活。
通过在生物考古学方法中考虑现代罕见病社群的观点，可以将疾病对生活经历和不同社会观念和态度的细微影响纳入研究范围，同时提高对损伤和残疾的认识，并推进当代观点。
由于缺乏充分的背景证据，在确定社会身份和残疾方面存在局限性。
应该将该框架应用于各种背景下的其他罕见病，以进一步测试其功能。
