JACKSONVILLE, Fla. ( Ivanhoe Newswire) - A mysterious birth defect that often comes with a perfectly normal pregnancy is taking parents by surprise. The condition can kill up to 30 percent of children born with it. Now, there's a new way to help infants overcome it.
At breakfast time, it's hard to tell who's happier, Mark Cercy or his baby son Micah. Moments like this might not have been possible if Micah hadn't had life-changing surgery just six days after he was born. He had Pierre Robin syndrome. One out of every nine-thousand babies is born with the condition. Their jaws are severely undersized, causing their tongues to fall back and block their throats.
"It was crushing, just absolutely crushing to have something that you didn't know, you thought you'd prepared for everything," Mark Cercy, Micah's dad, told Ivanhoe.
Traditional treatment for PRS is a tracheostomy to help breathing or external hardware to extend the jaw, but at Wolfson Children's Hospital, Doctor Saswata Roy is doing something different.
"So these kids classically just like this baby, present with feeding issues and breathing issues," Saswata Roy, M.D., a pediatric craniofacial surgeon at Nemours Children's Clinic, explained.
To lengthen the jaw and open the airway, metal hardware is placed on the bone on both sides, then gradually extended over several weeks as new bone grows around it.
"As they lay down new bone, we keep extending the fracture farther and farther forward. In effect, we can reconstruct a normal shaped jaw in these babies," Dr. Roy said.
Now, thanks to the surgery, Micah can eat and breathe normally. An active little boy with a very bright future.
Doctor Roy said not only is this procedure safer and more effective for babies born with Pierre Robin, the long term costs are less than treating babies with tracheostomy. The causes of the defect are mainly unknown but doctors believe it is a genetic disorder.
RESEARCH SUMMARY
BACKGROUND: The exact causes of Pierre Robin syndrome are unknown. It may be part of many genetic syndromes. The lower jaw develops slowly before birth, but speeds up during the first year of life. Infants with this condition should NOT be put on their back, to prevent the tongue from falling back into the airway. In moderate cases, the patient will need to have a tube placed through the nose and into the airways to avoid airway blockage. In severe cases, surgery is needed to prevent a blockage in the upper airway. Some patients need surgery to make a hole in the windpipe (tracheostomy). Feeding must be done very carefully to avoid choking and breathing liquids into the airways. The child may need to be fed through a tube occasionally to prevent choking.
SYMPTOMS: The symptoms of Pierre Rpbin Syndrome include a cleft soft palate or high-arched palate; Jaw that is very small with receding chin; jaw placed unusually far back in the throat; large-appearing tongue compared to jaw; natal teeth (teeth appearing when the baby is born); recurrent ear infections; and/or a small opening in the roof of the mouth, which causes choking.
COMPLICATIONS: Complications that may arise if the disorder is not treated include; choking episodes; feeding difficulties; breathing difficulties, especially when the child sleeps; low blood oxygen and brain damage (due to difficulty breathing); pulmonary hypertension; congestive heart failure and death.
NEW TREATMENT: A newer procedure for rebuilding the jaw of an infant with micrognathia, which relieves the blockage permanently, is being performed at Wolfson Children's Hospital by pediatric craniofacial surgeon Saswata Roy, MD, from Nemours Children's Clinic, Jacksonville. Called neonatal distraction osteogenesis, the procedure involves performing surgery on the baby within days of birth, before he leaves the neonatal intensive care unit (NICU). Through a 2-cm incision, Dr. Roy creates a small fracture in the lower jaw (called an osteotomy) and attaches a device known as a distractor to both sides of the bone on both sides of the cut. The distractor keeps the fracture open and is slowly turned over weeks or days to stretch the break in the abnormal bone; then, new tissue fills the space and creates new bone. This method, which is usually not painful to infants, forms a longer bone from a shorter one in a period of about six weeks. Once the new bone is strong enough, the surgeon removes the distractor during a short second operation.
INTERVIEW
Dr. Saswata Roy, Pediatric Otolaryngologist, Pediatric Facial Plastic Surgeon and Craniofacial Surgeon talks about a new technology to correct jaw disorders in babies.
What is the problem that has this effect on the jaw?
Dr. Roy: A lot of babies in my practice are born with a very small jaw (called micrognathia). Their jaw is diminutive and therefore, because their jaw is small and the tongue is of normal size, their tongue falls back and affects their ability to breathe and feed appropriately.
How severe can this be?
Dr. Roy: It can be mild to very severe. When it is very severe, these kids have to be intubated and placed on a ventilator in order for them to get oxygen to their lungs. At birth, we have to put a tube in through the nose and the mouth to get to the trachea. The babies by themselves are not able to breathe well because the tongue is falling back, which also affects their ability to swallow and feed.
Is this potentially fatal if you don't intervene and do something?
Dr. Roy: Absolutely it is, and some facilities have a difficult time securing the, airway of a newborn with this condition; some institutions perform a tracheostomy where you're actually putting a tube directly from the outside through the skin into the trachea.
What was the old way of trying to address this problem and was there a mortality rate associated with that as well?
Dr. Roy: The management of babies with Pierre Robin Sequence can be controversial and every team has its bias towards one approach over another Once upon a time, hospitals had special beds where they would hold the baby's face down in a lockdown position, which in this day and age would be considered inhumane. There are places that still suture the lip to the tongue, hoping that it will pull the tongue forward. But oftentimes, suturing the lip to the tongue, both of which are soft tissue, can still result in the tongue falling back, causing the baby difficulty in breathing and feeding. Certain teams perform a tracheostomy, which is providing an opening in the neck so that the babies can breathe directly from the outside through this tube. The problem with tracheostomy is that once you put one in, these trach tubes have to be kept in place until these children are three to four years of age. The other problem is that, if you're in an outlying area and the tracheotomy tube gets plugged and parents cannot get it back in, it can become very difficult for local emergency medical services to establish a viable airway through re-intubation.
This is because standard methods of intubation through the mouth and nose are so much more challenging in babies who have small jaws.
Are there different ways to repair this problem?
Dr. Roy: There are many variations on the theme. Certain institutions continue to use external hardware to lengthen the jawbone. And this hardware is similar to what you would see in frames used in leg-lengthening procedures. The hardware sits outside the body, with multiple pins going through the skin to help achieve lengthening of the jaw. Fortunately at Wolfson Children's Hospital, we have worked hard on miniaturizing this process. We use very small internal devices through very minimal incisions. We put all of this hardware underneath the skin, with just a tiny pin sticking out that parents can turn with a screwdriver to lengthen the jaw.
What are the goals of the procedure?
Dr. Roy: The goal of the procedure is really pretty simple. Most kids are born with a jaw of normal size, allowing their tongue to be out of the way so that they can breathe, eat and swallow normally. What happens with babies with Pierre Robin Sequence is that jaw is small and in utero, the tongue gets in the way of the palatal shelves coming together to form an intact palate. This is why these kids are often born with a cleft palate. The reason they have feeding difficulties and breathing difficulties primarily is because the tongue falls back against the back wall of the throat and obstructs their airway. What we try to do is get these babies back on a normal path that all the other babies with normal-sized structures are on. In other words, we try to build their jaw fairly rapidly in the first few weeks of life so their jaws are the same length as every other baby's, allowing them to breathe normally and feed normally without the need to have a tracheotomy tube or a gastrostomy tube.
So what do you do?
Dr. Roy: It's really very simple. We try to fool the baby's body into thinking that they have a fractured jaw. As you may guess, babies grow very, very quickly and they can heal better at that early age than when they are older. We lose our potential to re-generate and grow every day of our lives. And if you can treat these babies early, you can create a fracture and attach a device that will keep pushing the space of the fracture further and further apart. The baby's body thinks that they have a fracture and so they lay down new bone, hoping to heal the fracture. But as they lay down new bone, we keep extending the fracture further and further apart, making the baby lay down up to twenty millimeters of bone. That's two centimeters of new bone in a baby and sometimes longer. In effect, we can reconstruct a normal-sized and shaped jaw in these babies.
In a fairly short period of time.
Dr. Roy: In a matter of ten days.
How long do they have the apparatus in place?
Dr. Roy: Once the baby has put in fresh new bone, we call it a bony callous. What we have to do is let that callous harden and the role of the apparatus is to hold these bony segments in place during the hardening process. Kind of like taking a clay pot and putting it in the oven and letting it harden. And we let the device stay there for six to eight weeks, allowing the bony segments to harden.
What does this mean for these kids long-term?
Dr. Roy: What it means for these kids is they don't need to do a trach or a G tube. It means that they feed just like every other baby and they breathe just like every other baby. Long term, it also means that we can address their cleft palate at a much earlier age than we would if we did not do jaw distraction advancement.
In terms of longevity, it is a pretty big deal too, isn't it? Is this is a fairly dangerous thing for a baby to have?
Dr. Roy: It is a fairly complex surgery and probably not something that should be performed at every institution. If you look at the literature, the mortality rate traditionally in the days gone by has been as high as thirty to forty percent in a lot of Pierre Robin babies. I think that we have come a long way in being able to manage these kids, especially in light of the technology that is available. In all honesty, I do a lot of very interesting and gratifying surgeries, but of all the things that I do, there are very few things that truly change the course of a child's life like this procedure.
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