Brynn Weitzsacker looked every bit a cheerful and healthy 8-month-old baby when Dr. Michael Markiewicz examined her earlier this month.
But seven months ago, Brynn had two thin, metal arms sticking down from her lower jaw following an innovative surgery to stretch the unusually short lower jaw she was born with.
Brynn has a rare condition, known as Pierre Robin sequence, that can make it difficult for infants to breathe and feed.
Brynn spent the first seven weeks of her life in the neonatal intensive care unit – before and after her surgery – and she has had regular follow-up visits in the Craniofacial Center of Western New York at Oishei Children's Hospital.
Brynn's parents, Nicole and Michael Weitzsacker of Cheektowaga, say they're grateful for the care she's received, and they hope telling their story helps another family confronting this condition.
"It was pretty scary at first," Mike Weitzsacker said after Brynn's exam. "But it was like when you're just struck with the unknown at first. Then actually finding out, OK, they know what this is. It's not common by any stretch, but they know it. So it hits you, but it's almost a relief at the same time. Because now you're in somewhat charted territory."
The Weitzsackers say they had no idea about Brynn's condition before she was born July 25 at Millard Fillmore Suburban Hospital through a planned cesarean section. Pierre Robin sequence can't be seen easily on a sonogram.
But from the beginning, Brynn was struggling to breathe. Nicole said, initially, she was only vaguely aware of what was happening.
"I just remember hearing them page the doctor. And I was like, please tell me there's something wrong with me and not the baby. And they didn't come over to me," Nicole said.
Within hours, Brynn was taken to the neonatal intensive care unit at the former Children's Hospital on Bryant Street for specialized treatment.
There, the Weitzsackers, learned more about Pierre Robin sequence and what it would mean for their daughter.
The condition is characterized by a set of abnormalities in the head and face, including a shorter lower jaw and a tongue set farther back in the mouth that can block the airway. Often there's a cleft palate, or a hole in the roof of the mouth.
Between 1 in 8,000 and and 1 in 14,500 babies have Pierre Robin sequence. Dr. Michael Pizzuto, an ear, nose and throat specialist, said Children's Hospital sees six to 10 of these cases every year, and those requiring surgery are rarer still.
Pizzuto met Brynn in the NICU at Children's when he checked on her airway.
Pizzuto said making sure an infant stays on her stomach is a first step in managing Pierre Robin sequence. Doctors intubated Brynn, to hold the airway open, but Brynn pulled the tubes out of her throat soon after.
Historically, the best surgical option was a tracheotomy to permanently place a breathing tube in the throat.
More recently, surgeons have developed a promising intervention known as distraction osteogenesis. It involves breaking the lower jaw and taking advantage of the body's healing power by implanting a device that slowly stretches the jaw.
Previously, infants in Buffalo had to go to Rochester for that surgery. "It was an inconvenience to the family," Pizzuto said.
But Markiewicz, a pediatric craniofacial surgeon based in Chicago, last year returned to work in his native Buffalo once a month.
The Weitzsackers, who spent hours each night in the NICU with Brynn, studied their options before agreeing she needed the procedure.
"I was the emotional one," Nicole said. "(Her husband) does a lot of research. So he was looking everything up. I'm just like, she's a baby, and that's major surgery. So I definitely worried a lot."
Markiewicz performed the surgery in August, at three weeks, cutting into Brynn's lower jaw and inserting the two arms that stick out and prompted Brynn's 5-year-old brother, Chace, to say she looked "like a Transformer."
Doctors twisted the arms to extend Brynn's lower jaw 1 millimeter each day, for a total of 19 millimeters or three-fourths of an inch.
By September, doctors removed the arms and Brynn was able to go home from the NICU. The rest of the device was removed from her jaw in November.
"She started to go back to her happy self," Nicole said.
Brynn's lower jaw is now closer to a typical length for an infant.
"She's doing amazing. Gaining weight now. Breathing on her own with no issues, no signs of airway obstruction. She just needs to have her palate fixed in a few months," Markiewicz said in an interview.
She had tubes placed in her ears in December to address fluid buildup. But otherwise she just returns to Children's Craniofacial Clinic for checkups, like the one earlier this month.
"She looks really good," Markiewicz said as he studied Brynn. "Good jaw."
The Weitzsackers asked Markiewicz about any future complications for Brynn, who was dressed in a pink hoodie, a shirt with a nautical design and jeans.
Markiewicz said the cleft palate surgery would head off any potential speech problems. He said there may be issues with teeth development, but that won't be known for some time.
For now, her parents are relieved Brynn's surgery and recovery have gone so well.
"Even her scars have healed so nicely," Nicole said.
Story topics: Kid's Day