Real Patients, Real Stories

Mom's Intuition Leads to Rare Diagnosis



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Canyon River Orion Hansen was born a special baby. Of course, all babies are special to their parents. And some babies, like Canyon, are born with a cleft palette, which affects their breathing and swallowing. However, Breana Woodruff, Canyon’s mom, who had spent night after night awake in fear of her newborn son’s weight dropping and airways closing, suspected there was more to it. 

“There were several points where Canyon stopped breathing. He was turning blue to the point where we could tell he was not doing what he was supposed to be doing,” Woodruff said.

Woodruff was able to schedule an appointment with a pediatric otolaryngologist at Primary Children’s Hospital only six weeks after Canyon was born. She went in to the appointment with a long, written list of questions she had about her son’s abnormal health, but Jonathan Skirko, M.D., M.H.P.A., M.P.H., immediately recognized the problem. Canyon had a rare condition called Pierre Robin Sequence (PRS).

“Did they mention his chin?” Woodruff recalls Skirko asking her about her son’s abnormally short chin.

Infants with this condition are born with a smaller lower jaw, which causes the tongue to get pushed back and up into the nose, thus resulting in potentially life-threatening breathing problems and blocked airways.

“For some reason or another, babies with this condition are kind of overlooked,” said Skirko. “Part of the problem is that people immediately relate swallowing problems with the cleft palette.”

But it was clear to Woodruff and Skirko that Canyon had been suffering from both the cleft palette and PRS. Fortunately, Skirko was familiar with a simple surgery that would reverse the condition.

Within two weeks, Canyon was scheduled for surgery. Skirko took a scan of Canyon’s head and made a precise sculpture of his skull so he would be familiar with the baby’s unique structure. The procedure involved placing two metal plates on either side of Canyon’s jaw that would stretch the bone using a tool that extended out from behind the baby’s ears.

“Bone grows in response to stress,” said Skirko, who explained how the procedure’s tools worked. For about a week, he would add a millimeter to Canyon’s jaw twice a day with the extended tools. By the end of the week, Canyon’s jaw was fully extended, allowing his tongue to come forward without blocking the airway.

 “The surgery has created such a big turnaround,” said Woodruff. “It’s amazing. Canyon’s getting chunky. He’s smiling and laughing and giggling now. Just to see him be able to eat, to gain weight, to not struggle to breathe. I can’t thank Dr. Skirko enough.”

Canyon’s journey isn’t over. There are still a few procedures he may need to undergo to completely repair his anatomy, not to mention remove the metal plates still in his jaw and to fix his cleft palette. But for now, he’s a happy, healthy baby.

Woodruff’s journey isn’t over either. Her experience with this rare condition has inspired her to raise awareness to help other parents with babies with PRS.

“Both times I’ve called 911, I had to explain to the operator what my son’s problem was. I even had to explain it to the EMT,” said Woodruff. “There needs to be more education on it, not only for the hospital but for parents too.”

Woodruff is involved in several PRS groups in Utah in which she shares the success story of her son’s surgery. She is also planning to map Canyon’s genome, which will help researchers understand what PRS may look like on the genetic level.

“I just want the word out to help other people,” said Woodruff, who spoke of the severe stress and lack of sleep she experienced before she fully understood what was wrong with her child.

“I can’t imagine anybody waking up and their kid being gone because of this,” said Danny Hansen, as he cradled sleeping son Canyon in his arms.

At the University of Utah and Primary Children's Hospital, we are trying to better understand the impact Pierre Robin Sequence has on children and families.  This study will help us both understand and measure the many ways this disorder has affected your child and your family.

 

 

 


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