Thundering hoofbeats and dazzling zebras: A model integrating current rare disease perspectives in paleopathology.

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.

Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study.

Studies of interacting/overlapping genetic skeletal disorders are rare for populations today, but even more so for archaeological contexts. The skeletal remains of an adult female (EZ 3-7-1) were excavated in the 1980s from the Middle Woodland (50BC-AD400) context of the Elizabeth site (11PK512) in the lower Illinois Valley (LIV), USA. Reported here are the standard score (z-score) comparisons of the measured skeletal differences of EZ 3-7-1 with a reference sample and a re-analysis of the individual's pathological changes, with special consideration placed on refining the disease diagnosis. The impressive preservation and meticulous recovery of these skeletal remains have provided the opportunity to identify the first and earliest archaeological example of an individual (EZ 3-7-1) with a combined genetic skeletal dysplasia, Leri-Weill dyschondrosteosis and achondroplasia.