Category Archives: Cornelia de Lange

Whole World – Cornelia de Lange Syndrome Awareness

Eighteen and a half years ago Lisa and I felt the world crack under our feet when the doctor told us our precious son, whom we’d been eagerly awaiting to meet for the first time, showed signs of a having a genetic disorder.

“It could be anything from no issues to death, I just don’t know.” David wasn’t even born yet and already the life we envisioned as crumbling around us. 

The next days were anxiety filled as Lisa was induced and we prepared for our little guy’s birth come what may. 

On July 4, 2002 David arrived—quiet, a full head of hair looking like a rock star, small, only two fingers on his left hand. The doctors whisked him to a tiny exam table set up in the room, conferred and called me over, pointing out various atypical features from head to toe. They wrapped and handed him to me to take to Lisa, the awaiting, brand new momma. I wanted to fix him, to hide the obvious, to wake up and find I was holding our healthy baby in my arms. 

I gently handed David to Lisa immediately pointing out his little hand and a couple small features. My mom was a nurse, so I learned young to face hard things like this head on no matter how I felt. Lisa took David’s little hand in hers, stroking it gently, “Hi David, I’m your mom. I love you.” 

The next day a doctor came to us in the NICU and told us, “your son has a severe genetic disorder called Cornelia de Lange Syndrome. He likely won’t walk or talk. I’m very sorry. I will bring you some information.” We didn’t see that doctor again.  

CdLS occurs in approximately 1 in 10,000 live births. CdLS is not a “one size fits all” condition. A person may have from a few to many traits of the syndrome including: Low birth weight, head and overall size;Developmental Delays; Gastrointestinal issues; Behavioral Issues; Particular Facial Features; Limb Differences; and more. 

As we celebrate Cornelia de Lange Awareness Day today, David has shown himself to be a fighter. For all the challenges and medical issues, he has faced over the tears, he faces it with courage and determination. David loves to laugh and loves music. He’s sensitive to others and seems to always know who needs a hug in the room. 

Our family’s life looks different than I imagined when Lisa and got married. But the last 18 years have been full of love, resilience, fun. We have learned a lot about ourselves, life and God. And the world feels more whole because David is in it.