For 3-year-old Austin Graue, his short life has been anything but typical.
At birth, he was delivered via emergency C-section after doctors determined he wouldn’t be able to breathe on his own. He was rushed from the hospital in his family’s hometown of Northfield, Minnesota, to Children’s – St. Paul.
“It was disbelief and shock,” said Mary Graue, Austin’s mother, when she thinks back to her baby’s first days. “What we thought was happening [having a healthy baby boy] was exactly the opposite. We asked ourselves: ‘Is he even going to survive?’ ”
Confusion and doubt swirled.
After discharge and a precious few days at home, Austin was readmitted to Children’s when he continued to experience breathing problems and near-constant vomiting prevented him from gaining weight. Diagnosed with pyloric stenosis (a narrowing of the pylorus, the opening from the stomach into the small intestine), Austin would require surgery.
Surgery was a success and Austin was discharged, albeit with a tracheostomy (a hole made in his neck that went through to his windpipe) to help him breathe (“His nasal passages were the size of pencil tips,” Mary said) as well as a gastronomy tube for feeding. His only visits to Children’s now would be for quarterly checkups. However, things quickly changed during his three-month visit when doctors told the Graues that the “soft spots” on Austin’s head were closing too quickly and he would need surgery, again.
A new diagnosis: Austin had Pfeiffer syndrome.
“Austin had experienced challenges since birth and now we finally had the answer why,” Mary said. “It was such a relief to finally have an answer.”
Hope for Austin’s future was growing.
Pfeiffer syndrome is a rare genetic disorder which only affects about 1 in every 100,000 people. Because of his condition, the bones of Austin’s skull had prematurely fused together, putting increased pressure on his brain. If left untreated, Austin’s brain would not be able to fully develop, causing a host of developmental problems. Physically, Austin would begin to develop bulging and wide-set eyes, a high forehead and an underdeveloped jaw.
At just 1 year old, Austin and his family met Robert Tibesar, MD, one of the craniofacial surgeons atChildren’s ENT and Facial Plastic Surgery, the first and only ENT and facial plastic surgery practice in Minnesota that cares exclusively for kids.
“Austin had fusion of many of his sutures – or joints – in his skull,” Tibesar said. “That meant that his mid-face, forehead and the back of his head were not growing properly. The fused sutures had constricted growth and were causing Austin to have an abnormally shaped head, as well as put him at an elevated risk of pressure inside his skull.”
First, Tibesar, along with Joseph Petronio, MD, Children’s neurosurgery medical director, performed surgery to advance the front part of Austin’s head and eyebrows, allowing him to better close his eyes and improve the contour of his forehead.
“As expected in children with Pfeiffer syndrome, the problems with Austin’s skull could not be solved with just one operation,” Tibesar said. “The fused sutures in the back of his head continued to constrict the growth of his skull.”
“The back of Austin’s head was flat,” Tibesar continued, “and that was preventing his brain from fully developing. The back part of the brain serves important functions for vision and balance, and we needed that to be decompressed to allow his brain to grow normally.”
Tibesar would use his knowledge of the jaw distraction procedure – a procedure pioneered at Children’s – to perform a “cranial vault expansion” on Austin, which would be coupled, for the first time, with image-guidance technology.
"In looking at the literature, there are no other case reports of this exact procedure for this exact problem,” Tibesar said.
As Austin’s dad, Phil, described it, Tibesar and his team were going to “move an island of bone” on Austin’s head.