Marley’s Journey with VACTERL Association
Marley Garriott’s first few months of life have been anything but easy: at birth, she was diagnosed with VACTERL association, a syndrome that affects three or more body systems. “VACTERL” is an acronym, with each letter representing the first letter of one a common finding seen in affected children:
Congenital heart defects
At birth, Marley’s parents and medical team noticed that she had excess salivation: a symptom that suggested an esophageal anomaly. The esophageal anomaly was confirmed when a small tube was passed through her mouth, but then stopped abruptly in the upper esophagus. These findings were consistent with esophageal atresia – an abnormality where the upper esophagus ends in a blind pouch, with no connection to the rest of her intestinal tract.
Often associated with esophageal atresia, Marley also had an abnormal connection of the main airway (trachea) to the esophagus. This finding is called a tracheoesophageal fistula.
Because of these anomalies, Marley could not eat, yet air could get to her intestines, and even more dangerous, the acid in her stomach could reflux back up into her lungs and cause lung damage.
“In addition to her esophageal problem, Marley also was found to have no anus, a condition called imperforate anus. Without an anus, a child cannot stool. With these two findings, the abnormal esophagus and the missing anus, Marley required two surgeries on her first day of life,” said Katherine Barsness, MD, Marley’s pediatric surgeon. “The first operation was to disconnect the trachea from her esophagus, and reconnect the two separate ends of the esophagi together. The second was to create a colostomy: a temporary diversion of the intestines to the abdominal wall. With an esophagus that was now in continuity, and a temporary colostomy, Marley could then eat and stool normally.”
“Marley is a twin, so I had a lot of monitoring during pregnancy,” said Jennifer, Marley’s mom. “They never found anything abnormal, so it was a surprise when doctors in Rockford told us that they would be sending her to Lurie Children’s while I was still in the hospital after delivering, and while our other daughter, Grace, was still in the NICU in Rockford.”
Throughout this process, the Garriotts took turns traveling between the twins’ locations: Grace in the suburbs and Marley, downtown at Lurie Children’s.
In addition to the esophageal and anorectal malformations, Marley has several other anomalies. She was born with a cleft palate, some of her fingers are fused together, she has a small Atrial Septal Defect (ASD), some mild abnormalities with her bladder, and also some vertebral abnormalities. Therefore, Marley has features of all of the VACTERL associated anomalies except Renal.
“VACTERL requires coordinated interdisciplinary care,” Dr. Barsness said. “VACTERL is a cluster of malformations in organs and structures that are all developing at the same time during pregnancy. We don’t know why some children develop these anomalies, but it is not thought to be genetic or associated with anything that the mother does or does not do during the pregnancy.
“As pediatric surgeons, we repair the esophageal and anorectal problems. Then, these kids will also see cardiologists, orthopedists, plastic surgeons, otolaryngologists, neurologists and more, depending on what combination of complications they have.”
Marley will need to live close to a hospital until she reaches adulthood. Surgeries will occur throughout the first few years of her life, with the timing of one surgery depending on the outcome of the previous one. Long-term, Marley will lead a full life, but will still need intermittent care and monitoring due to the complications that VACTERL can cause. Close supervision, bowel management, and a transition plan to adult care are all a part of Marley’s future.
“That’s the unique thing about pediatric surgeons,” Dr. Barsness said. “We’ll see these children until they’re in their 20s. We follow our all of our patients long-term, to make sure they’re meeting all their milestones. We basically become a part of their family, and they become a part of ours.”
The surgeons work with the family to coordinate procedures and minimize the need for anesthesia, too. “For instance, an MRI was paired with her surgery,” Jennifer said. “They’d coordinate one procedure with another, which was super helpful.” Most recently, Marley, now six months old, had ear tubes placed to help with fluid buildup and had her esophagus stretched as a preventive measure.
“The fact that these kids can come here and have all their treatment occur in the same place… It’s really impressive,” Dr. Barsness said. “We can coordinate everything together; as physicians and healthcare providers, we ensure timely communication to ensure the best possible outcome.”