Elisa's Story of Niemann-Pick Type A Disease

23 years ago, this past March my husband, Jim and I lost our firstborn, Corey to Niemann-Pick Type A Disease, a severe and currently incurable neurodegenerative disorder.

Corey passed away at the young age of 2 ½. Today, Corey would have been 25 years old. While the years have passed, and time has been of help, it is still a challenge to comprehend this loss.

My hope is that by sharing our story it will stress the importance of genetic testing and awareness and to spare others the same grief and pain that we have endured.  By doing so, this will help create an understanding of the importance of genetic testing coupled with genetic counseling, research, and education.

I will never forget the frightening moment when Jim and I were told that Corey was diagnosed with this terminal disease.  We were told that Corey would have - at best - 3 years to live and he would never reach any milestones…. that he would never talk, sit-up walk or say I love you.  The news was cruel and impossible then and still is today.

At 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 Niemann-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 those things.  Complications arose shortly and we were back and forth from doctor to doctor from the time Corey was 3 months old until we were led to Dr. Desnick and his team at Mt. Sinai Hospital in NYC where he then was conclusively diagnosed at 6 months old.

In honor of Corey, it is our personal mission to educate the public on genetic testing options and on further advancements of research and education.

Over the past 25 years The Genetic Disease Foundation (GDF) has accelerated the effort to help this fight against these devastating diseases and importance of genetic testing, awareness, and research. I am proud and thrilled to share the progress.  We have come a long way and it is incredible to think how we are making a difference and we can affect other people’s lives in a way mine and my husbands were not.  We have choices and know that carrier couples have options.

Thankfully, through prenatal diagnosis, Jim and I have two amazing, healthy children, Alex and Emily. They too, like their parents, are healthy carriers of the Niemann-Pick gene. This is vital information for them when they start a family of their own someday. With advances in genetic science, technology and testing has greatly improved as well as screening recommendations.  Expanded carrier screening is now recommended for everyone planning to have children.

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 testing that was made available to us gave us the confidence to re-start our family after the news of Corey’s illness.

Jim and I know that we can’t bring Corey back, but his memory and beautiful spirit will live with us forever. Corey 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.  We have accomplished a great deal and we still have a long way to go.

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