In response to:
“New Tests for Newborns, And Dilemmas for Parents” by Amy Dockser Marcus
Wall Street Journal, July 26, 2011
AXYS submitted this letter to the editor.
AXYS serves individuals who have one of the most prevalent and yet confoundingly unknown genetic conditions, sex chromosome aneuploidy. The most common of these conditions is 47,XXY, also known as Klinefelter Syndrome. There are many other aneuploidies, affecting 1 in 500 males and females in total. Life is certainly worth living for these individuals. Early diagnosis leads to effective interventions that vastly improve lives, yet the majority of individuals with these conditions go undiagnosed for years—even a lifetime. Misdiagnosis and resulting mistreatment are common and lead to unwarranted suffering. One man spent 52 years diagnosed with bipolar disorder only to discover by accident he is 47,XXY. He was transformed from suicidal to exuberant when he received the right treatments. Undiagnosed individuals are susceptible to myriad comorbid conditions, such as heart disease and cancers, which can strike by surprise. Those with an accurate diagnosis can watch for and address these problems before they become life-threatening. AXYS strongly urges rapid development and deployment of early diagnostic testing to detect these conditions. In the case of X and Y chromosome variations, ignorance most definitely is NOT bliss.
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