Pierre Robin Sequence: Kaleb's Story

When Kaleb Ebrecht was born Sept. 27, 2016, his parents already had cause for concern.

“I had had an ultrasound scan that showed Kaleb’s head was measuring smaller than it should have been at full term,” explained his mom, Amy. “That’s when the doctors decided to do an emergency C-section.”

Born at 7 pounds, Kaleb had a cleft palate and an extra thumb on his right hand. Doctors also were concerned that his heart might be on the wrong side of his body, and his left kidney was out of place.

After three days at an area hospital, he was transferred to Children’s Mercy Kansas City, home of the region’s only level IV neonatal intensive care unit (NICU).

Fortunately, testing showed Kaleb’s heart and kidney were fine, but while in the NICU, his heart rate and oxygen levels kept dipping below normal. 

That was when Kaleb was diagnosed with Pierre Robin sequence, a condition that causes a small jaw. As a result, Kaleb’s tongue was blocking his airway passage while he was sleeping, resulting in the low oxygen levels.

To solve the problem, at only 6 weeks old Kaleb had a surgery called a mandibular distraction, which lengthens the jaw to make more room for breathing. The surgery was necessary to avoid a tracheostomy, or breathing tube.

Michael Lypka, DMD, MD, a Children’s Mercy plastic/maxillofacial surgeon, performed the operation. To lengthen Kaleb’s jaw, Dr. Lypka made two small incisions under the jawline about 1 inch long, cutting the lower jaw on each side. A device was then placed internally on both sides of the cut jaw, allowing the jaw to be stretched twice daily and lengthened gradually.

“We slowly turn the screws, usually two turns, twice a day, to open the metal plates. We can move the jaw out a good 3 centimeters. Then the fracture that we’ve stretched will form new bone between the plates,” Dr. Lypka said. “We turn the screws for two to three weeks, let the jaw heal, and remove the hardware after about three months.”

The airway problem was cured in seven to 10 days. And even though breastfeeding wasn’t possible following surgery, with the help of the NICU staff, Amy was able to use bottles to supply Kaleb with breast milk. 

“The support the NICU staff gave us was awesome,” Amy said.
 

One-stop clinic

Kaleb is now seen in the Children’s Mercy JAWS Clinic, short for Jaw, Air Way and Sleep. The JAWS Clinic makes it more convenient for patients like Kaleb to see many of the specialists needed at one appointment, including plastic surgery, pulmonary/sleep medicine, ear nose and throat and orthodontics. In addition to coordinating the services of medical professionals, the JAWS Clinic provides facility resources, including the Sleep Lab at Children’s Mercy Hospital Kansas and state-of-the-art 3-D imaging equipment. 

In December 2017, Dr. Lypka performed a second surgery for Kaleb, this one to repair a hole in the roof of his mouth that was present at birth, called a cleft palate repair. 

Cleft palate causes problems with feeding, growth, development, ear infections, hearing and, most significantly, speech development. Kaleb also is followed in the hospital’s cleft clinic for his hearing, speech, growth and genetics.

“The JAWS Clinic is really helpful for us,” Amy said. “We can see several providers all in the same place. They work together as a team, and communicate with one another so they are all aware of what’s going on with Kaleb.  That’s very comforting to me.”

Depending on his growth and development, Kaleb may need additional surgeries on his cleft palate and/or jaw.  Many children like Kaleb may need other airway interventions, such as tonsillectomy or medical interventions, such as CPAP therapy.

To provide this care, an ENT assesses anatomic status of the airway, providing other airway interventions, if needed.  The ENT also can provide care for other ear, nose and throat problems, which are common in children with a cleft palate history. A sleep medicine specialist helps in assessment of sleep-breathing, coordinates and interprets sleep studies, and provides expertise to help formulate an appropriate treatment plan.

Right now, Kaleb has been cleared for solid foods. He’s a happy baby who delights in making others happy, too, and is back in action, enjoying playing cars with his big brother Kyler.

“Everyone we have seen at Children’s Mercy has been fabulous!” Amy said. “They are interested in making sure that Kaleb is comfortable and doing well at the JAWS Clinic. We just couldn’t ask for better doctors.”