Life is a journey, and so is Tay-Sachs. Our first steps on this tortured path came when Ethan was six months old. Our only sign that something was troubling him was that he wasn't sitting up. It worried us, but we remembered that our twins were wobbly at six months too. We figured he would sit up any day. We tried to help him out: every day we put him on his belly for tummy time and we sat him between our legs so he could practice. And yet at seven and eight months, he still wasn’t getting there. We feared what we thought was the worst. He might have developmental delays. But we told ourselves that babies are just different. We had seen infants who didn’t crawl until they were 12 months and toddlers that didn’t walk until they were two. Eventually, they all got there. We were worried, but deep down we thought our sweet Ethan would too.
But he just wasn’t progressing. At his nine-month check up, I raised our concerns with his pediatrician, who referred us to the Early Intervention program. They agreed that Ethan had low muscle tone and there was something unusual with his eyes. Yes, his eyes! We already knew that he might have bad eyesight. We had noticed that when people held Ethan, he leaned his head way back to look at the person and would then break into laughter. Was that unusual? We thought it was cute! But it wasn’t just the eyes. There were the startles too. He would jump and cry at really loud noises, but don’t all children do that? They referred us to a pediatric ophthalmologist.
When we took Ethan to his eye exam, we thought they would say he needed glasses. At worst he might need surgery to correct a lazy eye that runs in the family. But the doctor said he had cherry red spots on his retinas. I thought “that doesn’t sound too bad,” but she didn’t say what it meant. When she referred us to a neurologist, I knew it was serious.
The neurologist tested Ethan for a number of unimaginable genetic conditions. The wait was excruciating, far worse than any wait I’d ever experienced before. We were assured that our doctors would find an answer, that if these tests came back negative there were four more rounds of tests we could do. No stone would be left unturned. But we didn’t want an answer—whatever it was, the answer wasn’t going to be okay.
After two very long weeks of hand wringing and long silences, we learned that Ethan has Tay-Sachs. Tay-Sachs is a degenerative genetic condition. It is a fatal condition. A baby with Tay-Sachs has an average life expectancy of two to four years. There is no treatment. There is no cure.
My husband and I were shocked. Neither one of us is from a high-risk group. We're not Jewish or French Canadian or Creole. We had no reason to think that either of us, much less both of us, carried the genetic mutation that causes Tay-Sachs. But that is what doctors have lead us all to believe: if you’re not in a high risk group, don’t worry about it. But 1 in every 250 to 300 people in the general population is a carrier for Tay-Sachs, so 1 in every 90,000 couples could have a Tay-Sachs baby and 1 in every 360,000 babies has Tay-Sachs. That means there are over 1 million carriers of Tay-Sachs in the United States alone and that ten babies are diagnosed every year. That is ten babies too many. Our odds were even lower because I was tested for Tay-Sachs and found to be negative. That made our odds of having a Tay-Sachs baby 1 in 620,000.
Despite those odds, it happened. Our sweet Ethan was born to us, exactly where he was meant to be, and he had Tay-Sachs. We love him dearly and endeavored to make every day as comfortable and loving for him as we possibly could. We knew all song the way, however, that it was only a matter of time before he was ripped away.
Life is a journey, and so is Tay-Sachs. But unlike life, Tay-Sachs only goes in one direction. And took all of us with it.