"He was struggling so hard to breathe, his ribcage was visible with each breath,” Erica recalls. “You would pick him up and his arms would just flop, and he wasn’t opening his eyes. It was very scary.”
They were especially troubled when their local physicians seemed puzzled, as well. They took him to their pediatrician, who found his temperature was critically low and he had lost a pound and a half since birth.
Recognizing that Gavin’s life was in danger, the pediatrician called 911 and Gavin was transported to a nearby hospital. There, neonatologists found dangerously high levels of ammonia in his system, but couldn’t explain the cause.
“They told us he needed to get to CHOP,” Erica says.
With one phone call, a team of nurses and physicians from CHOP with special expertise in problems in newborn health problems rushed to Gavin’s side and transported him with his parents trailing close behind — to CHOP’s Level IV Newborn/Infant Intensive Care Unit, the newborn care center ranked as one of the best in the nation by U.S. News & World Report.
The transfer turned out to be lifesaving. After evaluation and a series of tests, Gavin was diagnosed with a rare, life-threatening metabolic condition called methylmalonic acidemia that prevents his body from breaking down certain fats and proteins.
“Few hospitals are set up to treat these children, with the multiple specialists necessary to handle the intensive management they require,” says Jaya Ganesh, MBBS, MD, assistant professor of clinical pediatrics in CHOP’s Section of Metabolic Diseases, one of the largest programs of its kind in the country.
“If we don’t intervene and treat these newborns quickly, these disorders are associated with very high morbidity and mortality.”
Through a balance of medications and a special medical diet, a multidisciplinary team made up of neonatologists, genetic counselors, nurses, metabolic specialists and dieticians was able to get Gavin’s methylmalonic acidemia under control.
Dieticians and genetic counselors educated Gavin’s parents on the methylmalonic acidemia condition, referred them to family support groups around the country and put them in touch with other families who had been in the same situation before.
Thanks to the N/IICU’s sleep rooms, Erica and Steve were able to be within steps of Gavin every night for the three weeks he was in the Hospital.
“That was really helpful to our bonding and his development,” Erica says. “It’s scary enough to even go to sleep and leave him. Having that available to us helped us stay somewhat sane.”
Continued monitoring by CHOP experts
Now 7 months old, Gavin is doing well, gaining weight, growing and hitting all of his developmental milestones, says his mother.
He will remain on a special diet for the rest of his life and may eventually develop chronic renal failure and require liver or kidney transplants. Because of the rarity of the methylmalonic acidemiah condition and the limited experience other physicians have with it, the metabolic team at CHOP will monitor him every step of the way.
Erica can’t imagine her little boy’s health in the hands of anyone else.
“This is the place to be,” she says. “People come from all over the world to see this team. We’re very fortunate that we got him to CHOP. They saved his life, no doubt about it.”
Originally posted: May 2012