According to a story from Yahoo News, Dr. Nancy Wexler spent around 20 years in Venezuela conducting pivotal research on a deadly rare genetic disorder: Huntington’s disease. On Lake Maracaibo, entire families who had lived out their lives there for generations had been ravaged by the genetic illness the entire time. These families lived in isolation from the broader community out of fear that their horrible disorder was contagious. Doctors and priests avoided them. However, Dr. Wexler’s time with the families lead to the discovery of the genetic mutation that causes the illness in 1993.
About Huntington’s Disease
Huntington’s disease is a heritable disorder that causes brain cells to die. This is a long term, progressive, and ultimately lethal disease that causes severe debilitation over time. The disease is caused by a genetic mutation that affects the HTT gene. It normally appears between 30 and 50 years, but in rare cases it can occur before age 20. Symptoms of Huntington’s may first appear as subtle mood and behavioral changes and loss of coordination. Other symptoms include random movements called chorea, abnormal posture, sleep issues, trouble chewing, swallowing, and speaking, dementia, anxiety, depression, and impulsivity. Nine percent of deaths are the result of suicide. Treatment for Huntington’s disease is symptomatic, with no cure or disease altering therapies available. Most patients die around 15 to 20 years after their diagnosis. To learn more about Huntington’s disease, click here.
Nancy’s Story
At one time, Nancy had started a clinic to care for these families, but it has since been shuttered by the Venezuelan government. However, she also has a deeply personal connection to the field of research that she chose; her family is also affected by Huntington’s disease. In fact, she recently went public with the fact that she is a patient herself at age 74. Nancy’s mother Leonore along with all of her uncles eventually died because of the illness.
To Nancy’s closest friends and coworkers, her announcement isn’t exactly as a surprise as she has been displaying symptoms of the disorder for years. While the disease has already had a significant effect on her, she has no intention of stopping her work now. Recently, an experimental drug for the disorder has entered trials, but Nancy is too old to participate. It could have never been developed without her critical efforts.
