August 24, 1994 was one of the best days of my life. It was the day that my first child, Evan, was born. My husband Jeff and I were so happy that after nine long months of anticipation, we were blessed with a beautiful and healthy child—or so we thought. We had the joy of watching Evan develop normally for the first six months of his life. He was so responsive, eager to learn, happy, and he loved being around people.
We also had the normal hopes and dreams for the future, dreams and plans of watching him grow up, go to school, make friends, participate in sports and do anything and everything he wanted to do. During 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 Evan’s friends begin to crawl, sit up, stand, walk and interact with each other. Evan wasn’t able to do any of these. He just watched and smiled, but soon that smile began to fade and his observing became a distant stare. He couldn’t stand or even sit by himself; he started to become more irritable and wanted to be held all the time. He also began to have trouble swallowing, which made mealtimes very stressful for both him and us. We fought the tendency to compare and instead, we considered his “differences” to be within an acceptable range of developmental stages.
At ten months, we brought Evan to his pediatrician for what we thought was a standard wellness visit, but this turned out to be the beginning of our nightmare. Our pediatrician was concerned about Evan’s lack of development in almost all areas. She recommended that we see a pediatric neurologist, which we did immediately. The next three months had us going from doctor to doctor and hospital to hospital, where Evan underwent numerous uncomfortable and often painful tests. Many of the doctors whom we saw asked us if we were ever tested for Tay-Sachs. We responded that I was tested and was told I wasn’t a carrier.
In the meantime, we took Evan to see a pediatric ophthalmologist. Midway through the exam, the doctor found a cherry-red spot on his retina. This news was like having a dagger stabbed through our hearts, since this was an almost certain indicator that Evan had Tay-Sachs disease. I contacted my OB-GYN, who, upon re-examining my records, discovered that I had actually tested positive as a Tay-Sachs carrier.
Our lives had now been changed forever. We had to deal with the fact that even with the best of care, Evan would not live to reach the age of five. We immediately met with a surgeon and had a feeding tube inserted, so that he would be able to stay nourished and medicated. Before Evan’s surgery, Jeff and I researched the likely progression of Tay-Sachs disease. Because of Evan’s inability to move on his own, he had to undergo several hours per week of physical therapy so that his muscles would not atrophy. Evan eventually became blind and deaf. He developed seizures and would have several dozen a day. He also had very bad respiratory problems, which required us to provide chest physical therapy and to suction him regularly.
We decided that we wanted to care for Evan at home, so that we could spend as much time with him as possible. Thanks to the help of some wonderful nurses, that was able to happen. Because of the certainty of an early death, but the uncertainty of the exact timing, we made sure that we didn’t take a single moment of Evan’s life for granted. We exercised extreme caution with Evan both inside and outside of the house so that he would not be exposed to germs that might cause him any unnecessary illness.
Evan lived until he was almost 4½ years old. His disease obviously had an impact on our entire family. He required care 24 hours a day, seven days a week because he had lengthy tube feedings, around-the-clock medications and multiple breathing treatments daily. Luckily, we had family, friends and professional nurses to help with his care. Evan was truly an angel who brought out the best in everyone around him. Some of our best memories from when he was alive are the times we took him to a beach, park or pool, but instead of packing toys and picnic lunches, we dragged along the necessary medical equipment for him. As a result of Evan’s illness, we became advocates in the quest to eliminate these horrific diseases through education, awareness and research.
We now have three other healthy children who fill our lives with joy: Justin, Leigh and Sydney. With each of my other pregnancies, I was able to have a genetic screening test performed at 10 weeks. I also had two other pregnancies. One tested positive for Tay-Sachs and we decided to terminate, and the other ended in a miscarriage. Between all of my pregnancies, I experienced what it was like to have a choice and not to have a choice. From the bottom of my heart, I believe that every couple should be able to make educated decisions based on accurate information. I feel that it is the parents’ responsibility to help their children and to protect them from pain and suffering. This responsibility begins from the moment of conception.
Shari Ungerleider is the project coordinator of the Jewish Genetic Disease Consortium.