A revolutionary new surgery changes the picture for children with Apert syndrome.
A distractor, also called a “halo,” moves the middle of James Weatherwax’s face forward slowly over several weeks. James was born with Apert syndrome,a genetic disorder that prevents the bones in a child’s skull and face from growing normally, and can make it difficult for kids like him to do everydaythings like breathe, eat, talk or sleep.
If we’re born with the expectedconfiguration of features, we canafford to take our faces for granted.Although we might wish for a smallernose or movie-star cheekbones, ourfaces will do.
But children born with Apert syndrome don’t have that luxury.Their faces get in the way of simplybreathing, eating and sleeping.
Apert syndrome is a rare andextreme form of craniosynostosis,where one or more of the special jointsbetween the bones of the skull, calledsutures, fuse before birth – years tooearly – deforming the head andputting pressure on the brain.
Because the bones in the centerof their faces are jammed together likea compressed jigsaw puzzle, childrenwith Apert syndrome have concavefaces; bulging eyes; a small, beakednose; and an undersized upper jaw.Their fingers and toes are often fusedtogether. They likely have severe sleepapnea, and can suffer hearing loss,dental problems and developmentaldelays.
Face is portal to the world
The difficulties of Apert syndromego beyond the physical challenges,says Dr. Richard Hopper, a craniofacialsurgeon who is revolutionizing thesurgical options for kids with thesyndrome.
“We love Jameswhatever helooks like, but Ihad to do thisto improve hisquality of life.”
“We interact through our faces; it’sour portal to the world. Imagine a childwhose face constantly lets them down.They can’t breathe. Their eyes arewatery. They’re drooling. Their teethdon’t fit together. They talk funny. Theirface is always in the way of what theywant to do.
“And as humans we instinctivelyscan a person’s face when we meetthem. If the proportions and balanceof the face look right, we’re morelikely to interact,” says Hopper. “Whensomeone meets a child with Apertsyndrome for the first time, it can behard for the person to get past the factthat the child’s face just looks wrong.”
James has been treated at Children’s since he was a babyand has had more than 15 surgeries. Ongoing relationships like these are a big part of what motivatesDr. Richard Hopper to continue improving care.
James Weatherwax knows thesechallenges all too well. He was bornwith Apert syndrome and cleft lipand palate. He and his mom, KeciaWeatherwax, have been makingthe long journey from their islandcommunity in Klawock, Alaska, toSeattle Children’s since he was a baby.Now 10, James has already had morethan 15 surgeries on his skull, face,hands and feet.
Weatherwax says that over the yearsshe’s worried about how James wouldbe accepted by others. People in theirhome community know and accept herson, but this hasn’t always been the case.
“There were times where kids havebeen cruel. People can just be reallymean because they don’t understandhim,” she says.
Reassembling the puzzle
Drs. Richard Hopper and Hitesh Kapadia collaborate with eachother and other members of the 18 specialties that make up the Craniofacial Center. The kinds of dramatic improvements Hopper seeks for his patients are only possible in a collaborativeenvironment like Children’s.
Traditional surgeries for Apert and othersyndromic forms of craniosynostosismove the facial bones together as oneblock, the same distance and in onedirection. While it’s effective in helpingkids breathe, that approach doesn’tnormalize facial proportions. Hopperfelt his patients deserved more.
So, over the past five years, he andhis colleagues in the Craniofacial Center developed a new approach calledsegmental subcranial distraction. Itcombines existing techniques in a waythat hasn’t been done before, andgives patients the benefit of multipleprocedures in one surgery. It also doesmore than alleviate breathing andchewing problems: by normalizingthe features, it gives a child withApert syndrome the chance to interactsocially without his face getting inthe way.
“You need to move different partsof the face in different directions, anddifferent distances,” explains Hopper. “Essentially, you have to unlock thecompressed jigsaw puzzle and thenreassemble it.”
During the delicate, daylongsurgery, Hopper and his team separatethe bones of the face from the skull,releasing the cheekbones and eyesockets from the middle of the faceand repositioning them with small platesand screws. Using an implant that heand his colleagues design specificallyfor the child, he brings the foreheadforward and attaches a device knownas a distractor to the central part ofthe face.
While the child is recovering athome, a parent turns the distractor amillimeter a day for about two weeksto continually move the bones. Newbone grows and fills in the gaps. Onceeverything is in the right place, thedistractor stays on for about six moreweeks while the bone solidifies.
Like James, Dino Velagic, 17, hasApert syndrome, and struggled to breathe until Hopper and his team performed arevolutionary new procedure called segmentalsubcranial distraction. Thisprocedure, developed by Hopper, has only beendone seven times – all at Seattle Children’s.
Transformative innovations likesegmental subcranial distraction areonly possible, Hopper says, becauseof the depth and range of skills inChildren’s Craniofacial Center, thelargest in the United States
Dr. Hitesh Kapadia, one of just afew craniofacial surgical orthodontistsin the country, is a key collaborator.Weeks and even months before thesurgery, he uses computer imagingand standardized growth predictionsto precisely plan the direction andmagnitude of the movement of thefacial bones. Kapadia must take intoaccount the age of the child at thetime of surgery and accurately predictwhere the teeth need to meet, andhow that affects the cheekbones,nose and the soft tissues of the face.
“You need tomove differentparts of theface in differentdirections,and differentdistances.”
Quality of life
Social worker Cassandra Aspinall collaborates with child life specialists tohelp children work through their anxiety. Depending on the child’s age and developmental needs, they may use tools like this doll fitted withits own custom-made halo.
Weatherwax initially hesitated whenshe heard about the new treatment. “We love James whatever he lookslike, but I had to do this to improvehis quality of life,” she says. Earlyin 2013, they made another trip toSeattle Children’s.
“He is doing really well now and isjust being a happy boy who is alwayson the go,” says Weatherwax. “Hegoes out to play with his friends andhe loves playing basketball andswimming. He is much more activeand a lot more independent.”
For Hopper, that’s the measure ofsuccess. “For me, it’s never about ‘Wemoved that bone into a better position,wasn’t that a great surgery?’ It’s got tobe, ‘Was that the best way to move thatbone? How does that affect the child at2 o’clock in the morning? How does itaffect him when he meets a friend forthe first time on the playground?’”
Giving Families Options
After endoscopic surgery, Wesley Mattheswore a custom helmet for eight monthsto reshape his head. “He slept fine with itfrom day one,” recalls his mother, AngelaNeeleman. “Helmet therapy was worldseasier than I expected it to be.”
As Angela Neeleman and SteveMatthes discovered when their sonWesley was born, single-suturecraniosynostosis (where just one ofthe skull joints fuses prematurely)can happen in any family. In fact,one in every 2,000 babies borneach year has the condition.
The standard treatment involvesa surgery with a large incision toremove the fused suture and reshapethe skull bones; absorbable plates andscrews hold the pieces in place whilethey heal.
Recently, Seattle Children’s hasgiven families another option: acamera-assisted operation calledendoscopic strip craniectomy. It usestwo small incisions, takes half as longas the open surgery, and rarely requiresa blood transfusion (which is almostguaranteed with the open method).
After the endoscopic surgery thebaby must wear a helmet 23 hours aday for up to a year to mold the skull,and the family has to be able to comeback frequently to get the helmetadjusted. (The helmet is similar toone originally developed at Children’sfor babies who develop “flat headsyndrome” from lying on their backs.)
“We’re confident both surgerieswork equally well so families canchoose the option that makes themost sense for them,” says Dr. Amy Lee, the neurosurgeon who broughtthe procedure to Children’s.
Neeleman was uneasy with theopen surgery and appreciated havinga choice about Wesley's treatment. “I’m his mom; my job is to protect himas best as I can from as many thingsas possible. The endoscopic optionallowed me to do that.”
Published in Connection magazine, November 2013