Joey was born full-term on April 26, 2004. He weighed 7 lbs—1 oz. We had no indication anything was going on throughout the pregnancy. We were shocked the next day when the doctors started to tell us they suspected Joey had Cornelia de Lange Syndrome — that day started our CdLS journey with Joey.
Joey is currently 19 years old. He has three brothers and two sisters. One thing Joey loves to do is go to school. He thrives on structure and schedule. Joey also loves taking pictures on his iPad. If he gets ahold of someone’s phone, he will scroll to the camera app. He also knows right where to find the photos on any device. Joey also enjoys playing his keyboard (volume on high, of course), taking people’s keys to try to open EVERY door at school, and looking for clocks. His dad is a golf course superintendent, and he has loved going to “work” with him in the evenings this summer. They ride in a golf cart around the golf course doing various things or walking around. When we ask Joey if he’s ready to go to “work” with Dad, he claps his hands and heads for the door!
Joey faces daily challenges due to having CdLS. He is nonverbal, which makes communication difficult. Another challenge we face is Joey is “busy” all the time, never wanting to sit down or take a break from his active ways. He needs constant supervision. Joey also wants food all the time. He doesn’t seem to understand being full. Joey would eat all day long if we’d let him. He struggles with daily gas/stomach pain. We have medications to help control that, but it is still a problem. He had emergency surgery in June 2020 for a bowel obstruction. It remains a significant concern that he will have another one in the future, so we try to stay vigilant in watching for symptoms. Safety is also an issue. If he gets a chance, he will take off. He’s pretty fast! I’m sure Joey feels frustrated daily when we establish boundaries for him. Unfortunately, that comes out in the form of self-injurious behavior. It breaks our hearts to see him hurt himself. It’s such a powerless feeling.
The CdLS Foundation has been a great help to our family over the years. I hate to admit it, but I spent the better part of Joey’s first year of life trying to deny there was anything wrong. Once I finally reached out, they had so much information available. We were connected with a family in our area who also had a child with CdLS. Things got so much better after that. We were empowered with knowledge, and it wasn’t as scary anymore. For that, I am forever grateful.