Huntington's disease out of the closet?

Abstract

In her Art of Medicine essay in The Lancet today, Alice Wexler 1 Wexler A Stigma, history, and Huntington's disease. Lancet. 2010; (published online June 30.)https://doi.org/10.1016/S0140-6736(10)60957-9 Summary Full Text Full Text PDF PubMed Scopus (32) Google Scholar recounts the stigma faced by those with Huntington's disease, a cruelly progressive and incurable neurodegenerative condition that usually (not invariably) presents in mid-life. The disease is inherited as an autosomal dominant trait so that children of a parent with Huntington's disease are all at risk, with each having a 50% chance of developing the disease if they live a normal lifespan. The stigma of Huntington's disease, therefore, attaches to those who are at risk as well as to those with symptoms. Stigma, history, and Huntington's diseaseUntil my mother was diagnosed with Huntington's disease—a hereditary degenerative neurological and psychiatric disorder characterised by chorea, cognitive impairment, and emotional disturbance—she never mentioned that her father and three brothers had all died with this disease. Perhaps that missing family history was why I became a historian. I wanted to understand my mother's shame, and the origins of her devastating silence. Full-Text PDF Uncovering the true prevalence of Huntington's diseaseLegislation exists to ensure that research into drug development for rare diseases is encouraged. But how sure can we be that a rare disease is, in fact, rare, and what happens when the real prevalence is found to be higher, or lower, than official estimates suggest? Laura Spinney reports. Full-Text PDF