Last week young Burlington resident Anthony celebrated his first birthday. During the celebration he was able to eat birthday cake just like any other one-year-old and smile big for pictures, much to the delight of his adoptive parents.
When Anthony was born, however, it was far from certain he would enjoy these simple pleasures.
According to his doctor, Andrew Scott, MD, Pediatric Otolaryngologist and Facial Plastic Surgeon at Floating Hospital for Children at Tufts Medical Center, Anthony was born with micrognathia. Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin.
The problems associated with micrognathia are more than just cosmetic differences in the face. According to Dr. Scott the degree of Anthony's deformity made it impossible for him to maintain his tongue in a forward position, leading to potentially life-threatening feeding and breathing problems.
In fact, though he was only a month old, Anthony's condition was already taking a toll on the baby.
"At a month old Anthony was already underweight," he said. "He was skinnier than the day he was born because he couldn’t eat or breath correctly."
Anthony’s pre-adoptive parents were faced with three surgical options to correct the problem, Dr. Scott explained.
The first was tongue-lip adhesion in which the tip of the baby’s tongue is sewn to the lower lip, which aids breathing by pulling the tongue forward. The stitch is left is place over the course of a baby’s first year. Swallowing remains a problem during this time, however, so a feeding tube is often required for nutrition, along with home nursing for feeding tube management and suctioning. A second option was to bypass the tongue entirely with a tracheotomy. This procedure would require long-term home nursing care, suctioning and monitoring. Because a tracheotomy affects a baby's ability to generate sound there was also a high chance for language delays.
The third option was a procedure called mandibular distraction osteogenesis, which permanently corrects micrognathia over the course of a two-week hospital stay, and without the need for after-care.
Anthony's parents chose option three, though it required a lot of hospital care and meant the baby would be unconscious under pain medication for an extended period of time following the procedure.
"We had a decision to make, which we made with the state as we were in the process of legally adopting Anthony," said his adoptive mother, MaryAnn Puopolo. "If we didn't do this it would have long-term effects. He would potentially have had a tracheotomy for the rest of his life."
Fortunately the Puopolo family met Dr. Scott. A younger surgeon, Scott was trained at the University of Minnesota, which was among the first institutions to pioneer this procedure. Scott is the only surgeon in Massachusetts who performs this procedure on newborns, according to Tufts.
"At other institutions in Boston, surgeons feel that tongue-lip adhesion does the job of preventing the need for tracheotomy,” Scott said in a written note he sent to Patch. "And in the right hands, it does deliver an adequate airway result. But even in the best surgical hands, kids with tongue-lip adhesion are unable to eat normally for the duration of treatment, so they frequently require supplemental feeding through a tube."
In a phone interview with Patch, Scott said the procedure has been around since 1992 but hasn't been adopted in New England hospitals.
"It requires specialized training and I had to go a place and learn it," he said. "Other people who manage this problem in New England are a little more seasoned than I am so have own ways of doing this and their own philosophies on what is best."
Puopolo said making decision to go ahead with the surgery was "difficult, but not difficult" at the same time.
"I say that to every person who asks," she said. "It was a difficult time because you don't want children to go through surgery at that age, but it was the right move."
One reason it was a hard decision to make, Puopolo explained, is that the procedure, at least to those outside of the medical profession, sounds quite intense.
“During the initial surgery, which takes about three hours, a careful break is made in the jaw bone on either side, then hardware is attached behind and in front of the break,” Scott explains. “After a couple of days of healing, the jaw is slowly brought forward and the gap is spread apart. Since it’s done at a slow pace, the gap in the jaw fills in with bone over time. Once the desired length of the jaw is reached, which takes about two weeks, the child is able to breathe normally and can begin feeding by mouth. After this point, the child can return home and we simply wait for the bone to harden. The incision leaves a small scar under the chin.”
Fortunately the surgery was a success. Aside from a couple of minor scars, Puopolo said Anthony is eating well and smiling big, with no tubes or assistance.
"He's doing great, eating just like any other one-year-old," she said. "Dr. Scott changed his future. The quality of life he has had since this was done is amazing, he's just like any little boy. He could have spent the rest of his life explaining why he had a tube in his belly and one in his neck and another in his belly."
Puopolo said she is grateful the family found Dr. Scott and that he was able and trained to perform the surgery.
"The improvement this can make in an infant's life is amazing," she said. "Anthony was at Tufts for a long time but it was worth it. If he hadn't been there he wouldn't have had it done, it's great that they can do this. I would recommend it to any parent facing the same thing."
Final note, Puopolo said that Anthony did have an infection following the surgery that required him to be under antibiotics for a couple of weeks. It was a stressful time she said, but it was worth it in the end as he came out of it just fine. In fact, she said he woke up and smiled at her.
"We did shed tears, it was tough, but once he woke up and smiled at me it was worth it," she said. "I knew at that moment we did good."
Editor's note: The above story has been slightly modified with feedback from Dr. Scott. The main edit is that Anthony 'may' have had a feeding tube for an extended period of time rather than definitively having one permanently.