Anyone planning to start a family dreams of a healthy baby, and will do anything to prevent passing on a serious genetic disease. Thirty years ago, when my husband Ken and I were envisioning our future family, we took the next step and spoke to the obstetrician about genetic testing. As both of us are of Ashkenazi (Eastern European) decent, we knew we had a risk of having a baby with Tay Sachs, a devastating disease. We were relieved when our bloodwork was negative, but little did anyone know at that time that there was another genetic disease, Familial Dysautonomia (FD), which also affects the Ashkenazi population. In 1992, our son Andrew was born with FD, a life-threatening disease.
Today, the number of diseases on the genetic screening panels have snowballed. Currently in 2021, in addition to Tay Sachs and FD, there are now about 100 genetic diseases that affect those of Ashkenazi decent, and about another 160 genetic diseases that affect the general population. In sum, today’s genetic panel totals about 260 genetic conditions, and that number is ever growing.
Thankfully, today’s couples can exhale, not only because current screens detect so many more conditions, but also because genetic screening has become easy, accessible, and affordable. Any couple, regardless of decent, can take a simple inexpensive spit test and results are delivered conveniently by a genetic counselor via telehealth.
Best of all, couples can receive the latest expert free advice on genetic screening. All are welcome to attend THE GENE SCENE – An FD NOW “Ask the Expert” Series – on Tuesday, October 19th at 7:00pm CST Partnering with the Jewish Genetic Disease Consortium (JGDC) and JScreen, FD NOW will provide cutting edge information for expanded screening of Jewish and other genetic diseases. To help ensure your family’s healthy future, register at: https://fdnow.org/fd-now-ask-the-expert-series/
Ann Slaw, JD
President, FD NOW
Parent to young adult with Familial Dysautonomia