Cincinnati Children's Fetal Care Center

Rami and Micrognathia

Like many kids his age, Rami is what his mom describes as a “flight risk,” careening around the house with her chasing after him. In that and many ways, the almost 2-year-old is a typical toddler. He loves playing, hugging and kissing, and visiting the park and zoo. 

Yet for Audrey and her husband, Ali, walking was a milestone they weren’t sure their son would ever reach. 

Outside-the-Box Treatment 

Ali works at Cincinnati Children’s, and Audrey previously worked here, so they both understand the rare medical disorders that can affect babies even before birth. Still, when they found out they were pregnant and discussed the possibility that their child could be born with a complex health condition, they never thought it could happen to them. 

So, when a 3D ultrasound showed their son had a severely underdeveloped lower jaw—known as micrognathia—it changed their whole world. 

“Every time they did an ultrasound, he [Rami] never took his hands away from his face,” Ali recalled. “The doctor ordered a 3D ultrasound at 26 weeks because they still couldn’t see his mouth or jaw, and Audrey’s amniotic fluid was rising.  

“The doctor said, ‘I’m going to be honest with you. It doesn’t look great. His jaw is very severely recessed and he’s going to need help [with breathing] when he’s born.’” 

Audrey went into labor at 27 weeks and was admitted to Cincinnati Children’s Fetal Care Center for the next 10 weeks, where the team kept her from delivering early through amnioreductions, a procedure to decrease the amount of amniotic fluid and relieve pressure. 

At 37 weeks gestation, Rami was delivered in the Fetal Care Center’s Special Delivery Unit, one of the world’s few birthing centers located inside a pediatric hospital. The proximity allows mom and baby to stay close after delivery—and prevents the need for urgent medical transport of a baby known to need surgery immediately after birth. 

Michael Rutter, MD—a world-renown ear, nose and throat (ENT) surgeon who specializes in airway disorders—was present in the delivery room ready to perform the tracheotomy right away. 

Dr. Rutter immediately realized Rami getting oxygen via intubation wasn’t possible—Rami’s jaw was too recessed for intubation. Dr. Rutter quickly pivoted and performed the tracheotomy while Rami was still attached to the placenta, which continued to supply the life-saving oxygen Rami needed during surgery. The emergency procedure—performed by a multidisciplinary team in a state-of-the-art operating room with an expert surgeon who had experience in this type of situation—likely saved Rami’s life. 

Neonatologists then rushed Rami to the newborn intensive care unit (NICU).  

Because the NICU is just down the hall from the Special Delivery Unit, Audrey was able to meet her son there for the first time just a few hours later. 

“It was a very emotional moment,” Audrey said. “He was hooked up to all these wires and lines and IVs. I wasn’t able to hold him for the first five days of his life. But the nurse positioned my chair right next to him so he could hold my finger. That was our own little way to bond, which still felt really special.” 

Soon, a team of specialists—including surgeons, pulmonologists, audiologists, geneticists and ENTs—met with Audrey and Ali to explain their plan and next steps. Dan Benscoter, DO, Rami’s pulmonologist, for example, proposed trying new chest wall techniques to help with Rami’s breathing. 

“That’s the kind of stuff they were willing to do,” Ali said. “They told us they weren’t really sure if what they were going to try was going to work, but they wanted to try it because they thought it could work, and they wanted to help Rami.” 

A Rare Diagnosis 

Genetic testing revealed Rami had an extremely rare condition called cerebrocostomandibular syndrome—a condition so rare, in fact, there are fewer than 100 documented since the 1970s. 

“It’s kind of like a fluke misspelling in his genes,” Ali said. “Fortunately, Cincinnati Children’s was right in our backyard. I don’t know if things would have gone as well if we didn’t have these resources so close to us.”

Cerebrocostomandibular syndrome affects the jaw, mouth and ribs. (In Rami’s case, some of his ribs are missing and some of them are not continuous, so he only has seven on the left side and eight on the right. Typically, there are 12 ribs on each side.) 

Another symptom is conductive hearing loss, caused by sound not being able to reach the inner ear because of structural abnormalities.

Yet even though Rami was the first patient Cincinnati Children’s had seen with cerebrocostomandibular syndrome, “they never made us feel like we weren’t going to get proper care because of how rare the syndrome was,” Audrey said. “They fought for him as if he was one of their own. They made him and us feel like we were a part of their family.” 

In one such instance, when Rami needed a pacifier to stay calm and breathe properly, a care team member held one in his mouth all night to help him rest.  

Rami and his parents were also able to get to know one of Rami’s care team members who was born with the same syndrome. This connection made a huge impact on the family because meeting an adult with a successful career gave them hope for what Rami’s long-term future could look like.  

Looking to the Future

After five-and-a-half months in the hospital, Rami was stable enough to go home. Every available employee who cared for him took part in the send-off, even putting on a parade and singing a song.

“We cried the entire walk out of the hospital because it was just such a surreal moment that we could finally bring him home,” Audrey said.

She added: “We had some very scary moments with him in the NICU where he would hold his breath until he turned blue and had to get chest compressions. We just feel really lucky that we now get to have normal moments with him, because there was a point in time we weren’t sure we’d ever get that.”

Today, Rami receives around-the-clock nursing care and all his nutrition via a G-tube, or gastrostomy tube. He has a hearing aid and speaking valve to help him with hearing and learning how to talk. He also gets breathing support at night from a ventilator machine. 

But he’s also checking off milestones like walking, having “meals” with his parents to practice eating, and even going on his first vacation to Florida.

“This has pushed us to our limits, limits we didn’t know were possible,” Audrey said. “We’ve had our lowest lows, but we’ve also had our highest highs. We’ve experienced life with our son. We’ve made memories as a family. When I think about the future, I get excited.” 

(Published January 2025)