Born with: Pierre Robin Sequence
Leslie Kruszynski’s third pregnancy led her down an unexpected path. Formerly the manager of a daycare center, she now volunteers her time to photograph children with special needs.
“While I was pregnant with Jax, I met a little girl named Alana who later passed away from cancer,” Kruszynski says. “She was my first reality check, and the beginning of my journey. Through Alana, I learned that nothing about having a child is safe and guaranteed. She was the first of many children with health conditions I met during my pregnancy. Because of them, I knew there was a chance that Jax might not come out okay. God put some important people in my life who helped me get through everything that happened after he was born.”
Jax was born on Sept. 14, 2011, with Pierre Robin sequence, an uncommon congenital condition in which the infant has a “sequencing” of three events: a smaller-than-normal jaw that causes the tongue to fall back in the throat, which in turn results in difficulty breathing. “At our 12-week ultrasound, my obstetrician noticed that his chin was small and depressed,” Kruszynski says. “We knew there was a problem, but we didn’t know exactly what it was.”
Seven to 10 weeks into a pregnancy, the lower jaw grows rapidly, allowing the tongue to descend from between the two halves of the palate. If for some reason, the jaw doesn’t grow properly, the tongue can prevent the palate from closing, resulting in a cleft palate. The displaced lower jaw positions the tongue in the back of the mouth, causing breathing difficulty at birth.
The Kruszynskis’ third boy, Jax was delivered at Memorial Hermann Sugar Land Hospital and transported the next day by Memorial Hermann Life Flight® to Children’s Memorial Hermann Hospital, where he was seen in the Neonatal Intensive Care Unit by Dr. John Teichgraeber, the Director of the Craniofacial Team. Dr. T. immediately called in his colleague Dr. Michael Lypka, a member of the Texas Cleft-Craniofacial Team at Children’s Memorial Hermann Hospital and The University of Texas Health Science Center at Houston (UTHealth) Medical School. “Pierre Robin sequence occurs in various levels of severity,” says Dr. Lypka, who is an assistant professor of pediatric plastic and craniofacial surgery in the department of Pediatric Surgery at the medical school. “In some cases, like Jax’s, it’s severe enough that the baby has to be intubated at birth because the tongue completely obstructs the airway. A sleep study confirmed the severity of his condition, which made him a candidate for distraction osteogenesis.”
Also known as jaw distraction surgery, the procedure is used to enlarge the lower jaw, which moves the tongue forward, preventing it from obstructing the upper airway. The surgery starts with an osteotomy – surgical division of the jawbone – followed by the placement of metal rods under the skin and across the osteotomy.
“The two ends of the bone are gradually pulled apart through continual adjustments to the metal rods by turning small screws that protrude through the skin behind the cheek,” Dr. Lypka says. “By doing this three times a day, we can move the jaw forward at a rate of about 1 millimeter a day. The distraction is done over a period of two to three weeks to allow for the formation of new bone and soft tissue. Gradually, we move the jaw into the position we want. Then we allow the osteotomy to heal for a few weeks.”
The screws were removed in a second surgical procedure, performed about a month later. “The NICU at Children’s Memorial Hermann was our home for six weeks,” Kruszynski recalls. “It was a scary time for us because everything we went through with Jax was so unexpected. The doctors and nurses were really wonderful. They eased our fears and made us feel at home.”
Jax was discharged just before Halloween, and at the age of eight weeks, he started occupational therapy and physical therapy. In mid-December, Dr. Lypka removed the distraction device. Toward the end of January 2012, Jax was readmitted to Children’s Memorial Hermann Hospital and treated for breathing problems, and in early June he was taken by Life Flight to the hospital again with the same issues. Pediatric otolaryngologist Joseph Edmonds Jr., M.D., performed a bronchoscopy that revealed a narrowed airway. Dr. Edmonds also placed ear tubes through the eardrum to allow air into the middle ear as a treatment for infection.
Later that month, pediatric urologist Lawrence Cisek, M.D., Ph.D., performed a hypospadias repair and full circumcision. Hypospadias is a congenital defect in which the opening of the urethra is on the underside, rather than the end of the penis.
On July 23, 2012, Dr. Lypka repaired his cleft palate, a procedure typically performed at about a year of age when speech is developing. “After that, Jax really started to blossom,” Kruszynski says. “He has some developmental delays, but he’s progressing really well.”
Team Jax also includes Hope Northrup, M.D., a professor in the department of Pediatrics and director of the division of Medical Genetics. “We’re working to determine if there’s a genetic cause for his condition, but at this point we don’t have enough to go on,” Dr. Northrup says. “Medical genetics has progressed to the point where when we see patients, it’s more likely that we’ll find the underlying issues behind diagnoses than it was in the past. If our research reveals something novel in Jax’s case, we’ll report it in the literature.”
In the time that has passed since Kruszynski was pregnant with Jax, she initiated two projects to help the parents of children with serious health problems: Alana’s Angels, a nonprofit fundraising organization, and the Atlee Project, a Facebook page that allowed people from all over the world to send the child of a friend inspirational messages. “We laugh, me and my cancer kids’ moms, when our friends tell us how great we are,” she says. “We’re not heroes and saints, we’re just mothers.”
The Kruszynskis have met many physicians since Jax’s birth. “They were all wonderful, but Dr. Lypka really stands out for us,” she says. “And I love, love, love Ruth. She came to visit us in the NICU every day and did something incredibly helpful. She put me in contact with another mother in the NICU whose child had just had jaw distraction surgery.” Ruth Fleshman, L.C.S.W., serves as clinical coordinator for the Texas Cleft-Craniofacial Team.
As for the future, Kruszynski plans to continue photographing the special children who come into her life. “Jax has been an inspiration for me. With him, we’ve learned that we can’t live a life based on expectations. He has to set his own goals.”