Elisa Ross

Ten years ago this past March, my husband Jim and I lost our first born, Corey, to Neiman Pick (NP) Disease, a severe and currently incurable neurodegenerative disorder, at the young age of two and half. While ten years have passed, and time has been of help, it is still a challenge to comprehend this loss. We will never forget the frightening moment when we were told that Corey was diagnosed with this terminal genetic disease. We learned that Corey would have three years to live, at best, and he would never reach any milestones – he would never talk, sit-up, walk or say I love you. The news was cruel and impossible to comprehend then and still is today.

We will never forget the frightening moment when we were told that Corey was diagnosed with this terminal genetic diseaseAt the time of my pregnancy I was only tested prenatally for Tay Sachs disease. I was not made aware of any other screening options. I certainly was not tested for Neiman Pick Disease and had no idea I was a carrier of the gene. Further, we did not know my husband was a carrier as well. I had a normal pregnancy and like most young parents, our expectation was that we would give birth to a healthy, thriving baby.

Corey, at birth, seemed to be all of those things. Complications arose shortly thereafter and we were back and forth from doctor to doctor from the time Corey was three months old until we were lead to Dr. Robert Desnick and his team at Mt. Sinai Medical Center in New York City where he was conclusively diagnosed at six months old.

Thankfully, through prenatal genetic testing and diagnosis, we have two healthy, amazing children, Alex and Emily. They too, like their parents, are healthy carriers of the NP gene. This is vital information for them to know when they start a family of their own someday.

Despite our loss, we have continued our life and have so much to enjoy and to be thankful for. Our children bring us joy beyond description and the genetic testing that was made available to us gave us the confidence to re-start our family after the news of Corey's illness. Jimmy and I know that we can't bring Corey back, but his memory and beautiful spirit will live with us forever. For those of you who did not have the honor of knowing Corey, he was sweet, kind and full of dignity. Being in his presence was like being with an angel. We can however, turn our sadness into something positive.

Because of my personal experience, I now serve as President of the Genetic Disease Foundation (GDF), a 501c(3) corporation established in 1997 by patients, parents and families who have suffered from genetic diseases. The Foundation's mission is to support research and education to prevent and cure genetic diseases and birth defects. Vital to the foundation's mission is the education for patients, physicians and the public to increase awareness about genetic disorders as well as the availability of genetic testing options.

I have made it my personal mission and that of the foundation to raise awareness for genetic screening optionsThe Foundation has made tremendous strides. In 2005, the Genetic Disease Foundation's (GDF) launched a nationwide awareness campaign "One Test. Eleven Answers" after the Genetics Committee of the American College of Obstetricians and Gynecologists (ACOG) released an 'Opinion' earlier in that year addressing the need to test individuals of Jewish descent and the availability of the related expanded panel of prenatal carrier screening. The response from the medical community was phenomenal and through their efforts, thousands more couples were better educated about the availability of prenatal testing. The foundation again reached out to the medical community to encourage their participation in education and screening for the sixteen diseases.

Through my involvement with the GDF, I have made it my personal mission and that of the foundation to raise awareness for genetic screening options.

To learn more about genetic diseases and genetic testing, visit www.KnowYourGenes.org.