Georgina Windsor

Student and Youtuber


In 2019 I was diagnosed with a rare disease. My doctor said, “you have a rare disease caused by a gene mutation involving collagen synthesis”. Okay. Simple enough, right?

She continued to explain that “we haven’t yet discovered which mutation it is yet. We can’t test for it. EDS has 13 types. Of the 12 other types, we have identified the genetic cause”. So I had the only seemingly elusive type? How could this be? Isn’t it simple to find a defective gene?

Baffled, I went in search of answers. I discovered Biological anthropology, a discipline which studies the past and present evolution of the human species and is concerned with understanding the causes of present human diversity.

So – have you ever wondered what ancient humans might teach us about health and disease? Anthropology helped me understand the notion of a diagnostic odyssey, the complexities of genetics and adaptation, plus the shortfalls of modern medicine in treating patients as pathologies.

Georgina is a Biological Anthropology student at the University of Cambridge and is a rare disease patient with type 3 Ehlers-Danlos Syndrome, PoTS, and Mast Cell Activation Syndrome. Georgina also runs a Youtube channel and advocates for those with rare diseases through educational content creating and writing. She is passionate about what anthropology can bring to the study of rare diseases, particularly interested in evolutionary and bio-cultural approaches to Medicine and Genomics.

To read Georgie’s article on ‘Diagnostic Limbo’, click here.

Our species is diverse, wonderful, and has an evolutionary history still puzzling in many ways. Join me in uncovering the mysteries of what anthropology taught me about my rare disease.