Steven was born on April 29, 2003. At birth, it was apparent something was very wrong. Steven was not breathing, and his tongue was flipping into the back of his throat. We came to find out he had a mass blocking his nasal passageway and would require a trach.
Steven had seizures until he was six weeks old. Doctors never figured out what actually caused them. He had a extensive nose surgery and the trach was removed a few weeks before his first birthday. Life went on as normal as possible. We had a lot of therapy and enrolled into a special education classroom at age three. When Steven was five, I became pregnant with his sister.
By this time, it was apparent that Steven was delayed. We decided to take a genetic test on Steven and his sister while she was still in utero. They also tested me, but Steven’s father declined all testing. I will never forget the day the doctor called me. My heart sank, and I felt so empty. I didn’t understand why I felt this. I already went through so much with this little miracle but to finally have a diagnosis attached to him was devastating.
Nothing prepared me for it, and to make matters worse, the doctor was clueless to what it actually was. The famous words I had heard so many times about Steven. “We are stumped, he’s the only case like this!” Steven’s second chromosome is duplicated. Almost the entire long arm. I was told that it is usually a deletion, so we are lucky. I don’t feel that way. To not know what your child’s future holds is a hard thing to face as a parent. Today, Steven is a happy little boy who lives in his own little world. He is pretty healthy. Our family makes sure Steven’s world is as easy as possible. He’s friendly and loves the people in his life. He enjoys school and watching tv. He limits himself to playtime as his body gets tired before his mind does. It would be great to find someone in this world that can relate to our family!