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Finnegan’s Story: 22q11.2 Microduplication

parents playing with their 2 children

During Erin Ague’s pregnancy, she voiced her concern that the baby was not moving as much as he normally did. Prenatal ultrasounds had indicated some irregularities, including ventriculomegaly (fluid in the brain ventricles). Her doctor recommended inducing labor and delivering the baby by cesarean section at 37 weeks.

Expert Care at Women & Babies Hospital and CHOP

Finnegan was born at Women & Babies Hospital, where he was discovered to have multiple, complex medical issues, including tachycardia—a very rapid heart rate. He spent six days in the Neonatal Intensive Care Unit (NICU), where his neonatology team stabilized his heart and coordinated with colleagues at Children’s Hospital of Philadelphia (CHOP) to transfer his care.

At CHOP, Finn was put on a CPAP (continuous positive airway pressure) machine to help him breathe until his lungs were more fully developed.

During his two-month stay, he was diagnosed with additional conditions; some of which were treated with surgery over the course of his first year, and others that will require ongoing monitoring as he grows.

Genetic Testing Provides Answers

Genetic testing revealed a rare syndrome called 22q11.2 microduplication, which is caused by an extra piece of genetic material on the 22nd chromosome. This condition has been associated with a high arched palate in the mouth, growth and muscle tone deficiencies, and brain or learning disabilities—all of which his doctors will watch for as he gets older.

CHOP has a long history of studying chromosome 22 and has the largest program in the country for 22q11.2 deletion, a related syndrome. Finn’s doctor was the physician who actually discovered the 22q disorder decades ago.

By the time he was one year old, Finn had already completed two surgeries at CHOP for craniosynostosis, which will allow room for his skull to expand as his brain grows. He also had a shunt placed in his brain to help drain the fluid caused by hydrocephalus, which was first noticed as enlarged ventricles. His mother noted that Finn had been more playful and interactive since having these procedures.

Finn also had surgery to correct an intestinal malrotation, a disorder that occurs in utero when the baby’s small intestine does not rotate properly as it develops, and was fitted with a feeding tube.

A Team of Specialists Close to Home

FollowingFinn is now a happy, growing boy enjoying life with his parents and big sister, Bridget.

Following two surgeries to implant a vertical expandable prosthetic titanium rib VEPTR to expand Finn's chest and improve his lung capacity, Finn is a happy, growing boy, enjoying life with his parents and big sister, Bridget.  

Lancaster General Health’s affiliation with CHOP allows the family to have follow-up appointments and ongoing care by a CHOP cardiologist, gastroenterologist, pulmonologist, plastic surgeon and other subspecialists at LG Health’s Suburban Pavilion, just a short drive from their home. This relationship ensures continuity of care for Finn and reassurance for his parents that all of Finn’s providers, including his primary care doctor, are in communication and working in collaboration to meet all of his needs.

 

About LG Health Hub

The LG Health Hub features breaking medical news and straightforward advice to help individuals of all ages make healthy choices and reach their wellness goals. The blog puts articles by trusted Lancaster General Health clinical experts, good 'n healthy recipes, videos, patient stories, and health risk assessments at your fingertips.

 

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