Zebras Have Spots

This is the story of a woman born with a rare, genetic, autoinflammatory disease that was a life-limiting mystery until she was finally diagnosed at the age of 43. Her diagnosis of familial cold autoinflammatory syndrome (one of three cryopyrin-associated periodic syndromes) only came following information provided by another family member. Continued post-diagnosis frustration with medical practitioners motivated her to complete a Bachelor of Science (Biomedical Science) and immerse herself in the research of NLRP3, the gene responsible for her lifelong private struggle. NLRP3 has been implicated in many more common diseases and here the author describes her particular battle with inflammatory bowel disease, wondering aloud whether it is part of her primary condition. This informative story is told with candour and shades of dark humour, giving the reader a front-row seat to life with a rare disease in Australia.