A Life-Changing Privilege: Caring for a Child with Cornelia de Lange Syndrome

Kayla was born three months early in an emergency Cesarean section after she went into heart failure before birth. Doctors told me there was only a small chance she would survive the night, but she is a fighter.

Doctors had seen birth defects early in the pregnancy, but a genetic test failed to diagnose the problem. When she was 5 days old, a geneticist diagnosed her with Cornelia de Lange Syndrome. CdLS is a chromosomal abnormality that can result in a wide range of problems, including stunted growth, limb deformities, heart defects, sight and hearing impairments, digestive problems, seizures, cleft palates, bowel abnormalities, distinctive facial features, and developmental delays. Like many genetic syndromes, CdLS can have a wide range of severity. Kayla was likely to be moderately to severely affected.

Slowly, Kayla’s condition improved. Kayla came home after two and a half months, weighing 4 pounds. In the first two years, she had long hospitalizations for heart problems, pneumonia, mysterious infections and a life-threatening case of flu.

At age 19, Kayla weighs 60 pounds. She has never spoken, is still in diapers and has no self-care skills. She is legally blind and has lost nearly all of her hearing. But my husband and I are so thankful to have her and we are privileged to be her parents.