Category Archives: Cornelia de Lange

Give Voice to Hard Things

Yesterday was an exhausting day. We’ve been doing checkups with David’s doctors at UCLA since he aspirated under anesthesia in March. Ever since they keep pushing a G-tube and keep telling us how we’re putting his life at risk. Yesterday the doctor recommended palliative care and said we may even need to discuss hospice! To be clear—David is NOT dying. He’s doing great!

In 19 years of doctor visits, it still blows my mind how fragmented their recommendations are sometimes. It’s like the old saying, “When all you have is a hammer, everything becomes a nail.” When all you have is 7 minutes for patients (recommended time for a doctor to be in a room with a patient!), a specialty, and the last doctor’s notes, it doesn’t leave much room for a holistic picture. It doesn’t leave time to consider the impact of words on families.

I don’t think most people realize the burdens parents of special needs children bear. Every night I wonder if it’s the last time I’ll put David to bed. Every cough and sneeze threatens to become the pneumonia that will finally take him. On the other side of the equation, there are questions of how to care for an adult with around-the-clock needs over the next 5, 10, 20, or more years. There are the daily considerations of which activities your child can participate in and how that impacts every member of the family.

I don’t have any deep conclusions here. I’m grateful for the overall amazing care David gets and the many people who love him and our family well. This is just a heavy week. Sometimes it’s best to give voice to hard things.

Celebrating David’s Birthday

19 years ago—seriously, 19 years ago! We welcomed our amazing David into the world. The 4th of July 2002 brought pain and joy I had never felt before.

At Lisa’s 38 week check-up we learned our precious baby was measuring only 32 weeks. The news set in motion the most anxiety ridden 48 hours of our lives. A high-tech ultrasound revealed nothing.

Eager for information I asked the doctor, “what does his size mean?” She looked at me blankly, “What do you mean? It could mean anything. He may be undernourished, he may just be small, he may have a genetic syndrome.” Confused I pressed for more, “What kind of genetic syndrome? What issues would he have?” She coldly replied, “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 was crumbling around us. Anxiously coaching Lisa as she was induced so could meet our son, I feared the unknown. I had to be brave for my wife and for my son.

David at Birth 07/04/2002

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. That July 4 my heart was broken. My heart was full. I was gutted and I was happy and proud. David’s sweet little face revealed he had no idea what everyone was so worried about. He was content and happy. Our precious son was born. I became a dad.

Through David, the Lord showed me our value is inherent—unconnected to what we do. Every one of us is made in God’s image—precious, valuable, and loved. I see it so clearly in David, no matter how hard I find it to believe about myself. David lives life in the present. Sad when he’s sad. Happy and giddy when he’s happy. He’s an adventurer, a musician, a jokester, and a lover of people. I’m thankful for my amazing son and the last 19 years as his dad.

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.