In a fascinating article published in the New York Times Magazine, Robert Kolker explores the genetic mystery that unfolded in a Pittsburgh family. The youngest sibling, Barb, first noticed that something was wrong when her mother began experiencing early mental decline. Soon after, Barb’s sisters Christy, Mary, Jenny, and Peggy began showing similar symptoms. It wasn’t until 2008 that doctors at the Mayo Clinic diagnosed them with a mutation of the tau brain protein, resulting in a rare condition called frontotemporal dementia (FTD). Interestingly, this condition gained attention among Americans when it was revealed that Bruce Willis shares the same diagnosis, though the nature of his condition’s inheritance remains unknown.
At the time of the diagnosis, all but one of the eight siblings had children, who now face a 50-50 risk of developing FTD. Kolker’s story delves into the difficult decision faced by family members: whether or not to undergo testing in their twenties or thirties to determine their fate. Some choose to know, while others prefer to remain in ignorance. Barb, for instance, decided to get tested shortly before her 40th birthday in 2016, but was unable to face the results. She lived in uncertainty for a year until an unauthorized letter arrived with her test results, revealing that both she and her children were unaffected. Interestingly, Barb admits that she never considered the possibility of receiving good news. The article also highlights that not all family members had such fortunate outcomes. Read the full story to learn more about this intriguing genetic saga. Alternatively, you can explore other engrossing longform stories.
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