Family: Support: Share Your Story: Erin
The Fine Art of Remaking Faces
Would you have guessed this child was born without chin or cheekbones?
Surgeons are giving children new faces, and new lives.
JUST 15 YEARS AGO, CHILDREN BORN WITH SEVERE defects of the face
and skull could not expect much of a future. If they survived beyond
infancy, many became recluses. Others were institutionalized, despite
normal intelligence.
Today, surgical breakthroughs can offer most of these children
something like a normal life. "We have better designed operations
giant advances in anesthesia, better postoperative care," explains
Paul Manson, chairman of the plastic surgery department at the Johns
Hopkins School of Medicine. High-tech 3-D computer models provide
a look inside the head, to measure distances and volumes with unparalleled
precision. Armed with that knowledge and with new techniques, surgeons
can sculpt skulls and build faces with bits of bone, titanium, and
even ocean coral, operating on babies as young as one week old.
Doctors have found that they can better rearrange and reshape younger,
more malleable bone, so that growth can proceed normally. And, by
operating in the first year of life, the worst traumas of being
"different" can be avoided.
Some craniofacial abnormality occurs once in every 1,000 births.
Of those infants, roughly half have a problem severe enough to require
surgery -the most common being cleft lip and palate, now routinely
correctable.
In the story that follows, you'll meet a child, born with a severe,
even life-threatening craniofacial defect, and treated through Hopkins's
Children's Facial Rehabilitation Center. Erin Williams came into
the world without jaw, cheekbones, or fully formed ears. Thanks
to modern surgery and round-the-clock parental care, her story is
moving toward a happy ending.
LITTLE MORE THAN FOUR years ago, Hopkins geneticist Ethylin Jabs
was called in to Franklin Square Hospital to diagnose Erin Williams,
then two days old. In an hourlong examination, Jabs measured the
infant's face, peered into her ears, and took the family's medical
history. But she knew in the first few minutes, by the gnarled ears,
smalI jaw and cheekbones, and defects of the lower eyelids (the
eyes did not fully close), that Erin had Treacher Collins syndrome.
A genetic disorder characterized by underdevelopment of the facial
bones, it occurs about once every 50,000 births.
Consultation with the parents was difficult, Jabs recalled. "Their
every expectation was that the child would be fine." Jabs had the
unhappy task of telling the Williamses that while much could be
done, the child could be deaf-a heavy burden. And because of Erin's
underdeveloped chin, she would probably have respiratory problems
as well.
"Treacher Collins occurs early in embryogenesis, at six to nine
weeks," explains Jabs. It is usually inherited, but Erin's case
apparently was the result of a genetic mutation. What caused the
mutation is unknown, and for some time Connie Williams was tormented
by doubt and guilt. Though she had not smoked or used alcohol during
pregnancy, she made lists of everything she had eaten and breathed,
looking for a cause. Was it her fault? Was it something she had
done? Again and again, Jabs reassured her: It was nothing she had
done.
Since then, Jabs has identified the chromosomal location and gene
for Treacher Collins. At Hopkins Hospital, she now offers prenatal
testing for families with the syndrome.
Linda Cooper, genetic counselor, stressed to the Williamses that
Erin's condition should be treated matter-of-factly. "You have to
be a realist. You can't change the situation," Cooper told them.
"The child needs to look at the condition as part of life. If parents
get really upset, it translates to the child."
A few crises would pass before Cooper's advice sunk in. In the first
months, Connie Williams tried desperately to get her child to gain
weight. At four months, having gained only one pound since birth,
baby Erin was a skeleton. To eat and breathe at the same time was
a struggle, because her tongue would flip back and obstruct her
airway. On September 30, 1986, she aspirated, choking on her own
vomit as it was drawn into her lungs. Erin's heart and lungs stopped,
and she spent five hours being worked on in the emergency room of
Franklin Square, before being transferred to Hopkins.
Waiting in the Hopkins quiet room as their child struggled for
life, the Williamses were approached by a medical resident. Erin
might have suffered brain damage in the attack, she said. Did the
Williamses wish to pursue all avenues to keep their infant alive?
Stunned, the couple told the doctor to try everything. Then, left
alone together, they cried.
Erin's irregular anatomy presented a constellation of difficulties
for those trying to intubate her, recalls Bernard Marsh, professor
of otolaryngology. "They couldn't see where to put a tube to help
her breathe. The next day when I saw her, I was certain she would
never make a neurological recovery."
But the Williamses' faith in Erin proved to be well-founded. Doctors
and nurses were amazed at how the skinny little baby kept on fighting,
despite diminished energy reserves. After two weeks, Marsh was able
to form an opening through her neck and into her trachea, inserting
a tube known as a "trach." By the end of October, now able to get
oxygen easily, Erin began to thrive.
Her doctors attribute Erin's progress to unusual resilience, the
support of her family, and the fact that once she had sufficient
air, she gained weight and made a neurological recovery. More good
news: Testing by audiologists revealed enough inner ear development
that Erin could hear by using a bone conduction device.
Now, with essential questions of survival addressed, the Williamses
turned their attention to the possibilities of plastic surgery and
consulted Craig Dufresne at Hopkins. Dufresne reviewed CT scans
that showed a fairly simple skull underlying Erin's face. The problem
was that parts were missing: her lower jaw and the zygomatic arch,
which supports the cheeks. Dufresne believed he could reconstruct
her face in several operations, continuing through her teenage years.
His plan was to rebuild missing areas by using titanium plates as
a scaffold to hold bone grafts. "As she grows," he told the Williamses,
"we'll add to it."
Bone grafts for facial surgery were once taken from the patient's
hip, in a painful procedure. Today, surgeons sometimes take bits
of bone from the ribs. More often, they use the better quality bone
from the skull, some of which may be left over from the sculpting.
But for children whose facial gaps are severe, there may be too
little of their own bone available. Titanium is the preferred substitute
because it is light, biocompatible, and durable-the stuff of Stealth
bomber parts and Soviet submarines. Its only known drawback is that
it sets off metal detectors at airports.
To better plan Erin's reconstructive surgery, Dufresne ordered a
custommade plastic model of her new jawbone. He sent off a computer
tape with CT scans of her skull to CeMax Inc., a California company.
Technicians there inserted the tape into a computer attached to
a milling machine. Within 20 minutes, the machine churned out a
plastic jaw that would serve as a template for Erin's surgery. To
fill in under her eyes, Dufresne sent the tape to Tiemesh, a Las
Vegas-based company that constructed titanium cheekbones.
Without advance models, surgeons often had to wing it. "You never
knew until you got into the operation just what you had to do, and
then you had to improvise," says Paul White, a plastic surgeon and
CeMax's founder. Says Dufresne, "In the operating room, if I have
a prefabricated fit, I can reduce hours from the operating time.
The accuracy is very good, down to the millimeters."
In December 1987, in less than five hours of surgery, Dufresne
inserted the titanium plates along Erin's eye sockets. He built
up her jawbone by using fragments of rib and artificial bone made
of hydroxyapatite, a South Pacific coral treated chemically to mimic
human bone. He moved tissue from her upper to her lower eyelids,
enabling her to close her eyes. And he whittled a two inch foundation
for the chin from more hydroxyapatite. In years to come, Erin will
require periodic surgery to build upon the scaffolding Dufresne
set up.
The plastic surgeon believes it is best to intervene at about one
year, in cases like Erin's, because by then the brain has completed
its most rapid period of expansion, so growth can be redirected.
"I'm trying to guide cranial development," he explains. "If you
know where to use it, you can guide growth."
Last fall, 4-year-old Erin was hospitalized with her fifth bout
of pneumonia, but quickly recovered. With the growth of her lungs
and trachea, she had hoped to have her "trach" removed in a year
or two, but a recent sleep study shows that her bottom jaw is still
too small. (During the relaxed state of sleep, her tongue still
tends to flip backward, blocking the airway.) So the trach will
probably have to stay in till Dufresne moves her bottom jaw out,
at age 10 or 11.
Erin's face is not yet quite "normal," but she has a distinct chin
and prominent cheekbones. At 6, she'll have ears created from her
rib cartilage. Meanwhile, her parents have plunged full steam ahead
to provide as normal a life as possible.
At her brick home in Essex, Maryland, one recent weekday, Erin quickly
ate a grilled cheese sandwich for lunch, then sat down to watch
Walt Disney's Robin Hood on TV. When a yellow schoolbus honked in
the driveway, she donned her "Little Mermaid" knapsack and boarded
the bus off to her preschool for children with hearing or language
problems. That evening she would go to dance class. She can hear
music through a bone conduction device that is hidden in a ribbon
covered headband. According to her teachers, Erin is bright, doing
well.
She is a feisty child, not easily daunted. "Kids like this are
strong with almost overbearing personalities. They go through so
much medically, little things don't bother them at all," says Connie
Williams.
"Sometimes you get to the point where it seems an injustice to
the child," she muses. "Erin goes through so much. But we've been
in the hospital and seen beautiful kids with cystic fibrosis and
cancer. You know they won't live that long. We go through a lot
of medical crises, but at least I know Erin can have a life of her
own. Things will just get better for us."
By Lavinia Edmunds
Hopkins Magazine August 1991
Last Updated:
6/14/02
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