Jace (Idaho, USA)
Birth Date: November 8, 2011
Angel Date: February 9, 2012
Parents: Dave and Jen
Siblings: Sierra, Sadie, Maisie
Other Affected Family Members: None
Diagnosed: January 12, 2012
*Jace was a very sweet baby with a great disposition. Unfortunately, he did not live long enough to reach many milestones. He passed away on February 9, 2012 due to severe feeding intolerance.
*He would track toys moved in front of him but never changed his expression when looking at people.
*He would hold toys placed in his hand.
*He could lift his head but still required support.
*Never smiled in response to interactions.
*Never cooed or made baby noises.
*He had reflux that began very mild and by 2 1/2 months was projectile vomiting with feeds.
*Was fed with a nasogastic tube and feeding pump.
*Did not act hungry and would cry through feeds.
*Severe constipation, even with daily milk of magnesia.
*Slept A LOT....through the night and then many hours during the day.
*Frequently did not want to be held.
*Loved the bath!
*The sound of running water was smoothing to him.
*Never sucked. He would bite down very hard on objects put in his mouth....sometimes with a chewing motion.
*Frequently held his lips in a pursed position.
*He had poor perfussion and was often mottled and/or pale.
*Pregnancy was uncomplicated.
*At the 20 week ultrasound, Jace was determined to be small for gestational age. He had frequent follow-up ultrasounds to track his growth. He was less than 5th percentile for growth. All anatomy appeared normal on ultrasound.
*At 36 weeks, mom was induced for poor fetal growth. He weighed 3 lbs. 13 oz. Delivery was uncomplicated despite two true double knots in the cord. Jace never required any respiratory support.
*At birth, they discovered that his umbilicus was abnormally low -- approximately 1 cm above his penis. He also had a hypoplastic scrotum. Otherwise, he acted and moved appropriately for his age and size.
*Jace did have feeding difficulties from birth. He was fed by nasogastric tube after he attempted breast/bottle feeding. He had a very poor, uncordinated suck.
*Genetic testing was done due to low umblicus. The initial karyotype revealed additional chromosomal material on the 10th chromosome. A microarray was sent and determined that Jace's extra material was duplicated from the X chromosome. His duplication was fairly large and visible on the initial karyotype. His duplication was 15.5 MB and considered de novo.
*At 2 weeks of age, it was discovered that Jace had a cardiac defect. He had a corarction of the aorta. Initially, he was asymptomatic but by three weeks of age, he was life flighted to Lucille Packard Children's Hospital at Stanford for surgery. They discovered that he also had an abberant right subclavian. Surgery was performed without complications.
*Jace was unable to orally feed and was found to be microaspirating. After the microaspiration resolved, he was still unable to coordinate a suck. OT felt that he had poor midline tone which was affecting his suck, reflux, and severe constipation.
*Jace was home for almost 2 months when he passed away from severe feeding intolerance.