Jack’s journey managing Robin sequence

Pierre Robin Sequence, Jack Ryan
Jennifer and 8-week-old Jack

Jennifer Ryan is a disability expert. She started her career doing home visits with drug-addicted and abused babies, then ran a center and started a program for kids with autism and now works in a collaborative elementary school.

But nothing prepared this new mom for the challenges she would face with her own child.

“It’s completely different when it’s your own,” she says now, after her son Jack was treated at Boston Children’s Hospital’s Cleft and Craniofacial Center for a group of birth defects known as Pierre Robin sequence or just Robin sequence.

For the first and second trimesters of Jennifer’s pregnancy, everything looked perfect. At 30 weeks, a blood clot put Jennifer in the hospital and her pregnancy at risk. As a standard precaution for any high-risk pregnancy, more ultrasounds and tests were ordered. Doctors were concerned about one of the scans, so Jennifer was sent to Boston Children’s for an MRI.

That’s when things got complicated.

What is Pierre Robin sequence?

The MRI revealed that Jennifer and husband Matt’s unborn baby had Robin sequence, a condition where a small lower jaw or micrognathia pushes the tongue backward, making it difficult to breath.

“No one I knew had ever heard of the condition, but I told myself what I tell parents at work all the time — don’t Google it,” says Jennifer. “I had worked with kids with disabilities for years, so I knew Boston Children’s was the best of the best and would give us the information we needed.”

The couple met with craniofacial specialists Drs. Carolyn Rogers and Cory Resnick and lead cleft nurse Olivia Oppel to discuss next steps. Rogers — whose recent research demonstrated the value of prenatal MRI for diagnosing Robin sequence — explained that their son also had a cleft palate. They would take a wait and see approach, as treatment depends on the severity of both the micrognathia and the breathing problem.

Jack’s birth and treatment plan

Jack was born via C-section on Feb. 12. To his parents and the doctors’ relief, he let out a cry right away. As long as he lay on his stomach, Jack was able to breathe on his own.

On day two, Jack needed a feeding tube.

By day five, Jack had difficulty breathing.

Rogers was at the airport when she received a call from Beth Israel Hospital that Jack was struggling. She drove by the hospital’s NICU on her way home from the airport to talk with Jennifer and Matt about next steps. “It’s always helpful to discuss a treatment plan with the family in person, so everyone is on the same page,” says Rogers.

Pierre Robin sequence treatment options

Her message was clear: it was time to correct Jack’s Robin sequence so he could breathe.

The Ryans were immediately transferred to Boston Children’s. They sat down with Resnick, who recommended jaw distraction as the best treatment — a decision highly influenced by his research on the efficacy of tongue-lip adhesion (TLA). “TLA is actually a bit less invasive, but jaw distraction has a much higher success rate and avoids tracheostomy,” says Resnick. “Given that Robin sequence is a low-volume problem and requires specialized services for management, not that many centers are equipped to do this.”

“Honestly, both options sounded horrific,” says Jennifer, “But we were at the best children’s hospital in the country, so I trusted Dr. Resnick’s recommendation. He is the most responsive and caring doctor I’ve ever met. You can tell he truly cares about his patients.”

Jaw distraction surgery: Before and after

Jack Ryan, Pierre Robin sequence
Photo #1: Jack at birth. Photo #5: Jack, nine days after Mandibular distraction.

The operation was scheduled for three weeks out, when Jack would be almost a month old. Resnick got busy making a model of Jack’s jaw in preparation.

Jack waited, face down, tethered to breathing and feeding tubes.

A week later, a nurse came to tell Jennifer and Matt that the operation had been moved up a week. Jennifer burst into tears.

The nurse thought she had said something wrong. “No, you said everything right,” Jennifer assured her. “He needs to get this done to breathe!”— at which point the nurse started crying too. “NICU nurses are angels on earth,” says Jennifer.

Resnick performed surgery on March 1 — separating Jack’s lower jaw in two places and attaching distraction devices to the bones. Two metal pins attached to the devices stuck out from behind Jack’s ears, which Matt or Jennifer would turn with a tiny wrench three times a day. The pins turned the device, which slowly pulled the jaw apart and allowed Jack to grow new bone to fill in the gap.

Pierre Robin sequence, Jack Ryan
Resnick observes Jack at 8 weeks old. “There were babies on our floor from Bermuda and Ireland,” remembers Jennifer. “For some of these conditions, the only doctors in the world who can treat them are at Boston Children’s.”

Four days after surgery, Jack’s jaw had grown enough to give his tongue more space and free up his airway. His breathing tube was removed. Jennifer and Matt were elated. “There he was, just smiling away and breathing — on his back!”

Nine days after surgery, Resnick removed the pins.

Five weeks after surgery, Jack pulled his feeding tube out by himself and began feeding entirely on his own.

Six weeks after surgery, Jack had his devices removed.

Now five months old, Jack is breathing and feeding well on his own, and he has regular checkups with a multidisciplinary team of gastroenterologists, nutritionists, dentists and otolaryngologists.

Pierre Robin Sequence, Jack RyanWhen Jack is 10 months old, Rogers will perform his cleft palate repair, a common procedure requiring a night or two in the hospital, followed by six weeks on a liquid diet. Rogers feels it will likely be Jack’s last operation and says his prognosis is excellent.

Jennifer recently went back to work, leaving Jack in the capable hands of his eager grandmothers and aunt (a nurse). Reflecting on all the family has been through, Jennifer says, “Our friends tell us they couldn’t do what we did. I tell them, ‘Yes, you could. You wouldn’t have a choice. If your child needs you, you’ll be there.’”

Read Jennifer’s first-hand account, Taking my own advice: When the professional becomes a parent