September 24, 2023

When I gave birth to my first child, Evan in August of 1994, my husband Jeff and I were so happy that after nine long months of anticipation, we were blessed with a beautiful and healthy baby.  We joyfully watched Evan develop normally for the next six months and had normal hopes and dreams for his future.  Over the next few months, we started to become concerned, as we realized that Evan was not developing at the same pace as other children his age.  We witnessed our friends’ children begin to roll over, sit up, crawl, stand, walk, talk and interact with each other.  Evan was not able to do any of this; he just watched and smiled but soon his smile began to lessen and his observing became a distant stare.  Evan was not even able to sit up by himself without falling over.  We also started to notice that he was having difficulty eating.

At 10 months we brought Evan to the pediatrician for what we thought was a standard well visit, but this turned out to be the beginning of our nightmare. After several months, visits to numerous doctors, and endless tests, Evan was diagnosed with Tay-Sachs disease. This news not only devasted us but shocked us since I was tested for Tay-Sachs and told I was not a carrier.  I immediately contacted my OB/GYN who upon re-examining my records discovered that I had actually tested positive as a Tay-Sachs carrier.

As Evan’s disease quickly progressed, he was unable to move on his own, he suffered multiple seizures daily and had respiratory difficulty.

We wanted to care for Evan at home so that we could spend as much time with him as possible and not take a moment of his life for granted.  We spent our days taking him to the park, pool, beach, and zoo. Evan lost his battle with Tay-Sachs when he was almost 4 ½ years old.

We have three other healthy children. With each of my other pregnancies, I updated my carrier screening as diseases were added to the panel.  From the bottom of my heart, I believe that every couple should be able to make educated decisions, based on accurate genetic information.

To honor Evan, I decided to turn our tragedy into something positive by working to raise awareness about the importance of carrier screening so other families would be spared the suffering that we experienced. It is essential that everyone who is planning to start or add to their family seek preconception carrier screening along with genetic counseling to determine if they are at risk for having a child with any of these horrific diseases. For couples that are at risk, genetic counselors can help them understand the impact of the disease they carry on an affected child, and the availability of reproductive options to help them build healthy families.

Testing is now easier than ever. Visit JScreen.org to learn more and order your at-home testing kit.

New York Jewish Parenting Guide