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Mom Learns Newborn Has Rare Cornelia de Lange Syndrome

Mom Learns Newborn Has Rare Cornelia de Lange Syndrome

We finally saw our honey on the ultrasound screen after a demanding ten weeks. We hadn’t had any scans for 20 to 30 weeks since of insurance concerns. My worry was unbearable on the morning of our 30-week appointment, and that’s when everything altered forever.

Pregnant woman stands in field holding her stomach with husband who stands beside her
Martina Valekova Photography

Husband stands with arms around wife who stands in front of him
Courtesy of Stephanie George


As before, the ultrasound tech greeted us with a smile, but after a brief  conversation of small talk, silence sloped. I finally enquired as to whether everything was alright after a few minutes. She said she would be right back, turned off the screen, and smiled softly. With numbness in my eyes, I supposed to my fiancé Giovanni, “I knew it.”

Newborn with Cornelia de Lange syndrome lays on back in NICU with pump attached to mouth
Courtesy of Stephanie George

Mother holds newborn with Cornelia de Lange syndrome in her arms while sitting in NICU
Courtesy of Stephanie George



We exposed that our baby’s heart had serious faults. They said we had “no excellent” but to carry the pregnancy to term because they supposed he had a syndrome. Hearing that infuriated me, as though his life was already being thought unworthy.

Husband and wife hold newborn with Cornelia de Lange syndrome in car seat
Courtesy of Stephanie George



We had an amniocentesis in the weeks that shadowed, which confirmed a syndrome that we were unable to fully identity until after birth. According to the technician, he may already have heart failure because of the fluid surrounding his heart. The idea of behind him felt real and intimate for the first time. I leaked for days. Together, we mourned for the life we had been so eager to experience.

Bsby with Cornelia de Lange syndrome lays on back smiling with tube up his nose
Courtesy of Stephanie George



Finally, a paediatric cardiologist offered us hope. His heart flaws double outlet right ventricle, tetralogy of fallot, ventricular septal defect, and pulmonic stenosis were thoroughly described by Dr. Eleanor Ross. We were both relieved to receive a analysis and afraid of what lay ahead when we left.

Mother smiles as she holds baby with Cornelia de Lange syndrome up in air
Courtesy of Stephanie George


He stationary moving at 34 weeks. Because he was too small for surgery, the hospital staff conversant us that they weren’t yet prepared to deliver him. However, our young Sebastian had a different idea. He presented up less than a week later, weighing 3 pounds, 14 ounces, hairy, and prepared for battle.

Baby with Cornelia de Lange syndrome smiles as he sits in high chair
Courtesy of Stephanie George


The contentment lasted only a short time. He was occupied to the NICU and intubated shortly after birth. I only held him 29 times over the course of 100 days, and he was intubated for 80 of them. Doctors gave him a poor forecast after identifying him with Cornelia de Lange syndrome and encephalopathy.

Father lays asleep with baby who has Cornelia de Lange syndrome in his arms
Courtesy of Stephanie George



Sebastian, however, refuted their claims. He persevered through innumerable setbacks, a slow retrieval, and three heart surgeries. He is full off forte, love, and light, despite the belief that he would never walk, say, or hear.

Baby with Cornelia de Lange syndrome asleep with wires attached all over his body and wire up his nose
Courtesy of Stephanie George



Every day, he instills in us the standards of hope, thankfulness, and patience. Our heart, our joy, our fighter Sebastian is a miracle.