Family faces future Alzheimer’s risk with genetic testing
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In the United States, a family with a history of frontotemporal dementia (FTD) is grappling with the implications of genetic testing that reveals each member’s risk of inheriting the condition.
All nine siblings inherited a 50 percent chance of carrying a genetic variation causing FTD, a brain disorder affecting personality, behaviour, and language skills, and appearing in adulthood. Some family members chose to learn their status, while others preferred to remain uncertain, each decision profoundly impacting their lives.
Barb learned of the family’s genetic risk at age 32 and spent a decade anticipating a potential diagnosis, leading to exhaustion from constant self-monitoring. Her niece, Cynthia, tested positive at 30 and focused on enjoying life despite the prognosis, eventually conceiving a child through natural means after unsuccessful attempts at selective embryo transfer to avoid passing on the mutation.
Another cousin, Ansel, opted for a vasectomy to prevent transmitting the gene and stopped making long-term plans after receiving his positive result. Annika, after watching her mother succumb to FTD, initially resisted testing but ultimately decided to learn her status shortly before her wedding, receiving a positive result alongside her husband. The news prompted a wave of emotion, including anger from her aunt Barb, but also a sense of connection and shared experience within the family.
Facing a known future, Annika now prioritizes making the most of her time and cherishing each moment, altering her perspective on life and relationships.
