Sean and Sharon had an idyllic first pregnancy. Their son, born in March 2016, was a healthy baby boy. Due to a family history concern, the couple had asked for genetic testing during this pregnancy. They ended up having sequential screening, which looks for...
Ever since high school, Jonathan Katz wanted to undergo genetic testing. Jonathan is of Eastern European Jewish descent and was aware of the increased frequency of certain genetic conditions in people of Jewish ancestry. Jonathan’s brother eventually introduced him to...
For most of us, there is no single day that defines the course of our lives. No obvious line in the sand delineating the “before” from the “after.” For Amanda Kalinsky, however, there is most assuredly a day – April 22nd, 2009. It was the day she found out she...
Rebecca Hughes was only 31 when she received devastating news. She had Stage 3 ovarian cancer. Due to the aggressive nature of ovarian cancer and the lack of effective screening for potential recurrences, the recommended treatment protocol is a complete hysterectomy...
Spinal muscular atrophy (SMA) is a severe, neuromuscular disease that over time leads to the inability to walk, eat, or breathe. SMA is the leading genetic cause of infant death. The condition is inherited in an autosomal recessive manner, meaning those with the...
