March 28, 2023
Finnegan (“Finn”) was born in December of 2015 at UPMC Mercy Hospital of Pittsburgh, Pennsylvania. He is enjoying school, his friends, and annoying his older sister. He is turning 7 this December!
Finn’s 22q11.2 deletion was diagnosed when he was 1 month old. His parents knew from an anatomical ultrasound during pregnancy that he would be born with bilateral club feet, but otherwise had a normal, full-term pregnancy. He was delivered via scheduled C-Section and happily got to go back to the hospital room with Mom and Dad. The neonatologist came into the hospital room to examine Finn more closely and noticed a few midline defects (bifid uvula, submucosal cleft palate) in addition to the club feet and wanted him to be monitored more closely, so he went to the NICU at UPMC Mercy. That night, he had an apnec episode, so the next day he was transferred to UPMC Children’s Hospital of Pittsburgh to undergo many tests and needed to get over several more hurdles before he could go home more than three weeks later. Finnegan’s first Christmas and New Year were spent in the NICU.
One of the many tests and examinations that Finn underwent right after birth was a genetic panel. About 30 days later, Finn’s doctors were able to explain all of Finn’s irregularities as actually being related to his genetic diagnosis of DiGeorge Syndrome or 22q11.2 deletion. Shortly thereafter, Finn’s schedule became filled with more tests and doctors’ appointments to monitor his syndrome, and to understand which body systems had been affected: Cardiology, Nephrology, Endocrinology, Immunology, ENT, Orthopedics, Pediatric Surgery, Ophthalmology, Cleft-Craniofacial Team and Genetics.
At 10 months old, Finn suffered his first apnec seizure – the first of countless others in a 4-month period. Regular hospital stays and Neurology appointments entered Finn’s life until the doctors were able to control his seizures with medication. Finn had difficulty swallowing and could not nurse at birth, so a G-Tube was placed for nutrition. While Finn no longer uses the tube for feedings, it has become quite handy for administering medications.
This December, Finn will be undergoing palate surgery to help with speech. His family cannot wait to hear all the stories Finn has to tell them when he has words. Until then, he will continue to use the sounds and gestures that he must get his point across.
Finn is a happy and very silly first grader. He spends about 85% of his day in the classroom with his schoolmates. The rest of the day Finn spends with school interventionists and therapists (Occupational, Physical, and Speech). Finn is learning how to read, sign, and use his talker at school.
Finn has participated in several activities such as swimming lessons, gymnastics, and some martial arts. This Fall was Finn’s first soccer season! He loves to play with his vehicles (mostly trucks and buses), ride his bike, jump on the trampoline, swim, and play video games (he is very competitive!).
Finn’s family is so proud of everything that he has accomplished so far and cannot wait to see what is next for him. Finn wants to grow up to be a firefighter and school bus driver.