OUR STORIES
Lexi
We referred to Lexi as our mystery girl for 12 years, before she was diagnosed with PCDH19 and Cornelia de Lange Syndrome. She was born with what doctors said was a typical birth. Store cashiers commented on her gorgeous face, that she looked like a china doll with her blue eyes and long eyelashes. We joked that she must have gone to the beauty salon before her birth, with frosted tipped hair.
But we worried about a low birth weight at 6lb 5oz, and she was slightly jaundiced. And then began the months of me bringing her to the doctor for many issues, for which I was told, “she was fine, there’s nothing to worry about”. I had difficulty breastfeeding her. She hated to leave the house as an infant and would scream on local trips to the grocery store, when she was quiet at home. She slept through the night at 2 weeks of age. After her 2 month DTP vaccination, she was listless for 24 hours. At 6 months of age she developed severe constipation and GERD. We finally started Early Intervention at 8 months of age, after my persistence that something was not right. Lexi’s Early Intervention OT insisted she needed to see a neurologist. At 10 months of age, an MRI revealed slight diffuse cerebral atrophy of her brain. The doctors were finally paying attention.
At 18 months of age, she had her first seizure. By two years of age, right after the birth of her sister, the seizures started to cluster. The worst cluster episode occurred just before she turned 10 years old and she was admitted into intensive care. She basically seized for 4 days straight, until the doctors could get them under control.
We were learning about her swallowing disorder too when she was young and everything she ate had to be pureed and fed to her. We worked to make sure she could continue to eat her favorite foods, chocolate pudding and pizza. Her swallowing progressively got worse and the day after Thanksgiving at age 7, Lexi had an emergency g-tube placement. Today she has frequent bouts of pneumonia from aspirating and her poor swallowing control, even without being allowed any food or drink. She is also struggling with neuromuscular scoliosis, which will require surgery to correct.
Lexi is now attending 6th grade at our local middle school. She has two other younger sisters who are thankfully unaffected by this debilitating disorder. And even though Lexi has never said a word, and has difficulty getting around without the assistance of others, she is mischievous, loves to get into trouble and does it with a smile.