An eloquent, funny, and heartbreaking new memoir tells the story of Charise Pfeffer, who died in 2024 at age 43 from Huntington's disease (HD), inherited from her mother and maternal grandfather. She was a soaring talent, and her father tells the tale, in his daughter's own words.
An inherited disease that strikes every generation – until, by chance, it doesn't and transmission halts – means that young people who have taken a genetic test can see their future in their elders. Huntington's disease (HD) is the classic example of a condition inherited in this manner, autosomal dominant in the vocabulary of genetics.
The technical term means that males and females are affected, and just one copy of the mutant gene passes along the disease. That means every generation is affected, until, by chance, the next one isn't. Each child of a person with HD faces that 50:50 chance; a genetic test can predict the future.
Charise knew her fate. She was diagnosed at age 29, and had witnessed the symptoms since she was 8, when her mother became ill. Charise's father, Alan, recently published "Charise, A Woman with Huntington's Disease Who Changed the World: Her Poetry and Memoir."
To continue reading, go to DNA Science, where this post first appeared.