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.
Tibesar likened image guidance to using a GPS in favor of a paper map. “When you’re trying to get somewhere using a map, you may not know exactly where you are; sometimes you have to make your best guess. With GPS, you know exactly where you are at all times. The same is true with image guidance. During surgery, we know exactly where we need to make each bone cut.
“For Austin, and for many other kids to come, this represents a significant advance in terms of precision, and, therefore, safety for these types of surgeries.”
Austin would become a pioneer.
In the operating room, Tibesar and his colleagues opened Austin’s skull and attached four “distractors” over his head from ear to ear – these distractors would allow Austin’s skull to expand and grow. At the completion of the surgery, four small key holes protruded from Austin’s head, and his parents were entrusted to turn a special key twice a day to slowly expand his skull, causing little to no pain for Austin.
"It was really hard at first," Phil said. "You are literally moving his skull… I couldn’t believe I was doing it.”
After 30 days back home, Austin’s skull had expanded nearly 3 centimeters and was starting to grow properly on its own.
In February 2013, Tibesar and his colleagues removed the distractors in order to allow the bones of Austin’s skull to fill in more completely. Since the surgery, Austin has experienced few complications and has only been back to Children’s for routine check-ups.
According to Tibesar, the next-closest place that offers surgery for kids with Pfeiffer syndrome is in Chicago. Thankfully for Austin and his family, he would be able to be treated less than an hour from home.
“Things have been normal,” Mary said. “We have our daily worries, but otherwise Austin is going to school, talking more and making friends. As time goes on, we are getting more normal around here.”
For other parents that will face a similar journey, Mary encourages them to “take things one day at a time.”
Austin will have to undergo another surgery in a few years to ensure that the bones of his face grow along with the rest of his skull, but he’s well on his way to a much more typical life.
"We need parents who put their trust in us," Tibesar said. "It's a big honor to have that trust, but really, [the children] become the pioneers and we are able to apply this technology to the benefit of others."