August 24, 1994 was one of the best days for my husband Jeff and I. After nine long months of anticipation, I gave birth to our first child, Evan. He was born normal and healthy, or so we thought. After the first six months, Jeff and I became concerned with the lack of his development. We were watching other children his age begin to sit up, crawl, walk and talk. Evan was not able to do any of these things. When he was ten months, we took him to the pediatrician for what we thought was a standard well visit; however this turned out to be the beginning of our nightmare. The pediatrician was also concerned with the lack of his development and referred us to a pediatric neurologist. The next three months had us going to various doctors and for numerous tests. At thirteen months, we took Evan to see a pediatric ophthalmologist who discovered a cherry red spot on his retina. This was a classic sign of Tay-Sachs disease. We contacted Evan’s neurologist who told us this was the missing puzzle piece we had been looking for. A few days later, tests confirmed that Evan had Tay-Sachs disease.
Evan lived until he was almost 4 ½ years old. He was unable to move on his own; he suffered multiple seizures daily and had respiratory difficulty. Since Evan had trouble swallowing, we had a feeding tube surgically inserted so that he would be able to stay properly nourished and medicated. Evan required 24-hour care, 7 days a week. There is nothing more devastating to parents then to watch their child suffer for years and eventually die in their arms.
Jeff and I have 3 other beautiful children, Justin, Leigh and Sydney, who fill our lives with joy. This, however, does not take away or replace the tremendous loss we feel for Evan every day. I constantly imagine what it would be like for us as a family if Evan were still alive.