Family: Support: Share Your Story: Joan
 Before
everything in her world changed, Joan Richtsmeier had been listening
raptly to a speaker in a stately auditorium at the University of
Chicago. It was the summer of 1994 and the finest minds in the field
of vertebrate structure had come from all over the world to attend
the conference. Richtsmeier, who had been invited to lead a workshop,
was elated. At the workshop she planned to unveil to her international
colleagues a new technique for measuring structure and growth. She
had already used these methods to study skull growth in patients
with severely disfigured faces and skulls, and hoped that the new
tools would one day help refine surgical procedures for correcting
such psychologically devastating conditions.
There were other measures of success in her life. At age 38, Richtsmeier,
a biological anthropologist, had already been named associate professor
at the Johns Hopkins School of Medicine. She had recently published
several articles in major research journals. Her students praised
her in their written evaluations.
At home, she had a wonderful, devoted husband, a beautiful son
and daughter, and, although she had not yet told her friends, a
baby due in December. But as the speaker at the conference ended
his presentation, Richtsmeier began to feel strange. Fatigue, she
told herself at first. But the next day, she felt worse, and went
to see a doctor.
He told her she was in labor. Within minutes, an ambulance arrived
to whisk her to Prentice Women's Hospital. Richtsmeier was only
20 weeks into her pregnancy.
"I was in total shock," she recalls.
Within a few hours, her labor stopped. "I want to do everything
I can to save this baby," she told her doctors. Her medical team
instructed her to lie on her back with her feet slightly higher
than her head. If she even got up to get a drink of water, she could
induce labor again. So Richtsmeier did as she was told. For three
weeks, she lay in bed, 700 miles from home. She knew that the hospital
policy was not to attempt to resuscitate a baby born before the
24th week of gestation.
Even though these events took place four years ago, Richtsmeier,
seated in her small office at the School of Medicine, still hesitates
when she retells certain parts of her story, as though her feelings
are still embryonic, waiting for the proper signals to come unfurled.
Her face clearly shows her struggle with these emotions. It is
not a face that bears affectation. Her dark brown hair is pulled
back, outlining a broad forehead, high cheekbones, and piercing
blue eyes that are quick to dance with a smile.
She recalls that as she lay in the hospital bed, that August of
1994, she received frequent visits from her husband, Bill Ryan;
her parents, who drove in from Madison, Wisconsin; and two of her
brothers and a sister who lived in the Chicago area.
Richtsmeier and her siblings were raised in Madison. Joan, the
fifth of six children, headed off to St. Mary's College, in Indiana,
not really knowing what she wanted to study. She fell in love with
anthropology, especially the archaeological aspect, and spent summers
digging up pottery and other artifacts in the Dakotas.
Later she enrolled in an anthropology doctoral program at Northwestern
University, intending to concentrate in archaeology. Then she took
a course on osteology and became fascinated with the wealth of information
that could be divined from a single bone. Ridges and lumps on certain
bones, for instance, showed where a lot of muscle had been attached,
and could suggest that a person had plowed fields by hand. "I really
loved the bones," says Richtsmeier. "They're so beautiful. You can
find out so much from them." But it was the human skull that fascinated
her the most. "Every hole is specific for some neuromuscular bundle,"
she says. "The bones fit together beautifully. The design is just
perfect."
Take the sphenoid bone, for example. This butterflyshaped bone
sits underneath the brain and helps to support its weight. Excitedly,
Richtsmeier springs up from her chair to retrieve a sphenoid from
the collection of skull bones scattered throughout her lab. It is
exquisitely sculpted with holes through which thread nerves for
the optic system and other senses. "I remember thinking this was
just the neatest bone in the whole world," says Richtsmeier, as
she turns it over in her palm.
To fund her graduate studies, she began working part time as a
research assistant for the Center for Craniofacial Anomalies at
the University of Illinois. She worked in an enormous room filled
with X-rays of patients who were born with severe defects of the
skull and face. Here were the records of children with cleft lip
and palate, one of the more common craniofacial anomalies, which
occurs about once in every 700 births. The files also contained
the records of children with much rarer conditions, such as those
with Crouzon's syndrome, who have an overly large lower jaw, a sunken
look to their face, and bulging eyes; and of children with Apert's
syndrome (which affects one of every 100,000 to 160,000 births),
who also have unusual facial features, as well as fingers and toes
that are fused together.
Where an ordinary person would say, "Uh, no thank you," and quickly
shut the file drawers, Richtsmeier was immediately captivated. "It
was like, how do they get these strange morphologies? What could
I study?"
With her advisor, James Cheverud, Richtsmeier designed a dissertation
project that involved using the center's medical records. Adopting
a statistical tool that engineers had been using, they developed
a method to chart the growth of patients with Apert's or Crouzon's
syndrome. Such a statistical tool could possibly help clinicians
in diagnosing these unusual syndromes.
In 1986, Richtsmeier joined the Hopkins medical faculty in the
Department of Cell Biology and Anatomy, where she continued her
research in craniofacial morphology and growth. She became a collaborator
with the Center for Craniofacial Development and Disorders, a multi-
institution research project funded by the National Institutes of
Health and based at Hopkins. Working closely with Hopkins biostatistician
Subhash Lele, she then developed statistical techniques for studying
growth in three dimensions, using computed tomography (CT) scans.
It was those tools that she was planning to describe at the Chicago
meeting.
But Richtsmeier never got that chance. While Lele filled in for
her as best he could at the workshop, Richtsmeier lay in her hospital
bed, hoping and praying.
At the 24th week of her pregnancy, neither prayers or medical technology
could forestall nature any longer. On August 22, Richtsmeier gave
birth to a baby girl. She and her husband named their daughter Faith.
Born four months prematurely, Faith weighed not quite 1 1/2 pounds.
The medical team rapidly placed Faith on a respirator and took her
to the neonatal intensive care unit. They did not predict the palm-sized
infant's chances of survival, but it was clear that her life was
extremely tenuous.
When Richtsmeier first got a close look at Faith, a short while
after her birth, she felt a mixture of love and joy and fear and
repulsion. The minute crimson figure was covered head-to-toe in
tubes and wires. "Her head was smaller than a tennis ball. She was
really, really ugly, wrinkly," says Richtsmeier. "I loved her, but
she was ugly."
The mother soon overcame her fear. Every day, for hours, she'd
sit next to her daughter, watching, waiting, and praying. An observant
Catholic, she prayed to the Virgin Mary, someone who would understand
motherhood ("Please let Faith live and let her be healthy"), and
to Saint Jude, the Patron Saint of Hopeless Causes.
None of Faith's doctors knew why she had been born prematurely.
They made clear, though, that the baby lived on a very thin edge.
She had patent ductus arteriosis, a common condition in preemies,
which could, if left unchecked, fatally reduce the oxygen supply
to the brain. So when Faith was only a few days old, she had surgery
to correct the disorder. That was only prologue to further chapters
of medical problems.
The doctors were frank. Faith was at great risk of having a brain
bleed during her first days of life. if she got over that hurdle,
she would be at increased risk of many other long-range problems
including cystic fibrosis, mental retardation, blindness, and learning
disabilities.
During the next several weeks, the infant also had respiratory
illnesses and numerous infections. With each attempt to remove her
from her respirator, she had trouble breathing, and had to be put
back on it. Of all the problems that preemies suffer, of which there
are many, Faith seemed to get them all.
Richtsmeier just tried to get by one day at a time. "If you look
beyond that day, you go crazy," she says. After Faith was stabilized
following her surgery, Richtsmeier flew home over Labor Day weekend
to see her two older children, Hannah, then 8, and Lucien ("Luke"),
then 4, whom she had not seen since leaving for Chicago. While she
was in Baltimore, her husband flew to Chicago and stayed with Faith.
Thus began a tag-team arrangement that would last for the next several
months. She and Ryan, a meteorologist with the University of Maryland,
took turns staying with Faith for a week at a time so that one of
her parents was always with her, the other at home.
Although Richtsmeier was away from Hopkins for much of that fall,
her assistants continued the team's research. There was a lot scientists
did not understand about craniofacial anomalies. They did not know
what underlay most of these conditions. Was it something that occurred
at the genetic level? Or did it occur in the womb, during the birth
process, or during the first few days of life? And although surgeons
had recently developed improved techniques for sculpting new heads
and faces for children with these conditions, they knew little about
the longterm outcome of such procedures. Would surgery permanently
compensate for congenital defects? Or would kids born with abnormally
shaped skulls continue to have abnormal growth patterns, even after
surgery?
Richtsmeier's research touched upon both the long-range outcome
and underlying cause of craniofacial anomalies. It involved precisely
quantifying the geometry of the cranial bones of these patients
and then tracking their growth. From the data, she then hoped to
work backward to infer answers to how and when the anomalies began.
Craniofacial research was taking off in the early '90s. Geneticists
at Hopkins and elsewhere discovered numerous genetic mutations associated
with various craniofacial anomalies. And through CT scanning, scientists
were finally able to peer inside the skull in three dimensions,
rather than using two dimensions as they had been doing with X-
rays.
Excited by the new research possibilities of genetics and CT, Richtsmeier
and several collaborators at the Craniofacial Center embarked on
an ambitious experiment to understand a condition called sagittal
synostosis. The disorder involves improper development of the skull,
and results in an unusually long and narrow head shape. Although
isolated sagittal synostosis (a form of the condition that does
not occur as part of a congenital syndrome) affects only approximately
one in 4,000 births, Hopkins craniofacial experts treated a significant
number of these patients, whose CT scans could serve as data for
Richtsmeier's study.
Richtsmeier and her colleagues hypothesized that there were subtle
differences in the structure of the skulls of sagittal synostosis
patients. Perhaps patients could be divided into subgroups based
on these morphological differences and perhaps each subgroup resulted
from a different triggering event-a genetic mutation in one case,
crowding in the womb or a long and difficult labor in others. So,
using several different approaches, the team would search for subgroups.
Ethylin Wang Jabs, the center's director, would look for genetic
mutations that might underlie certain subtypes. Hopkins epidemiologist
Terri Beaty would study demographic and environmental variables.
And Richtsmeier would examine CT scans to see if she could categorize
patients into the hypothesized subgroups based on skull structure.
The team applied to the National Institute of Dental Research for
a grant to support the subgroups study. The week Richtsmeier left
for the conference in Chicago, she was still waiting to hear whether
they had been awarded the grant.
When Richtsmeier returned to Prentice Women's Hospital in Chicago
after her Labor Day visit to Baltimore, she noted happily that Faith's
head no longer looked like a squished tennis ball. It was not perfectly
round; it had some shape to it, as normal heads do.
But as the weeks wore on, Faith's head shape became odder. By the
time she was a month old, her head was unusually long from front
to back but remained flat on the sides. The typical shape, Richtsmeier
realized with dread, of babies with sagittal synostosis.
Richtsmeier mentioned her qualms to the nursing staff, but they
kindly dismissed her worries, noting that many premature babies
look this way. in the womb, amniotic fluid cushions and supports
the still-malleable skull. Once outside, preemies are not yet prepared
for gravity's tug. Their heads often become temporarily molded into
tall, flat-sided shapes. The nurses affectionately call them "toaster
heads."
Richtsmeier nodded to the nurses. What they said was true, but
she knew that the toaster head shape could also be the result of
sagittal synostosis. She had studied the condition for months, years,
had already examined the images of scores of children with sagittal
synostosis. Although she didn't express her fear to the nurses or
even to her husband, she says now, "I knew she had it."
The odds that her own daughter would suffer from the same rare
condition that she studied were impossibly low. But Richtsmeier
did not pause to reflect on how the parallel tracks of her personal
and professional lives had so shockingly intersected. Ironic insight
would come later. There were too many other things to worry about.
If Faith did indeed have sagittal synostosis, she would require
intensive medical attention. But the condition was not life threatening,
and Faith was having many other problems that were.
Little by little, over the following months, Faith pulled through
each medical crisis. Finally, in November, she was breathing on
her own and gaining weight. Her medical team started planning to
send her home.
Prior to Faith's release from the hospital, her occupational therapist
ordered some tests, including an X-ray of Faith's head, which she
now admitted did seem to be oddly shaped. After studying the X-ray,
the therapist came to the conclusion that Richtsmeier had been sure
of all along. Faith had sagittal synostosis.
A few days after receiving the diagnosis, Richtsmeier got a message
from her colleagues in Baltimore. It was good news-she had been
awarded the grant to study the disorder.
The bones of a newborn baby's skull are something like jigsaw puzzle
pieces that are assembled in the proper order, but with gaps left
in between the pieces. These gaps are called cranial sutures. (The
fontanelles, or soft spots, on an infant's head occur at the intersection
of two sutures.) In the top part of the skull, or neurocranium,
five bones meet at four sutures. The sutures allow growing room
for the brain, which more than doubles in size during the first
two years of life. At the same time, bone continues to grow at the
fronts of the cranial sutures. Eventually, the two sides of a suture
fuse, forming a permanent seam.
Each suture closes at a different time during development. The
metopic suture, which runs from the very top of the head to the
top center of the forehead, begins to fuse by the time a child is
2. The sagittal suture, on the other hand, which runs from the back
of the top of the head to where the metopic suture begins, doesn't
start to close until around age 22.
Occasionally, a suture closes prematurely or fails to form, a condition
called craniosynostosis. In the case of craniosynostosis involving
the sagittal suture, the brain compensates for its inability to
expand upward by growing more toward the front and back, elongating
the forehead and the back of the head.
Just before Faith was born, Richtsmeier had published a series
of papers that, she believed, offered improved approaches for studying
skull growth in patients with sagittal synostosis and other forms
of craniofacial anomalies. In one paper, she concluded that studying
growth in three dimensions required special statistical tools that
were different from those used to analyze two-dimensional data,
and she described the methods that she and Lele had developed.
Using those tools, she then had examined skull growth in three
species of monkeys. As infants, all three species had very similar
skull morphology. But by adulthood, their skulls had become radically
different. Obviously, Richtsmeier concluded, differences in postnatal
growth patterns mattered in determining final skull structure. That
rule appeared to apply to humans, as well.
Surgeons could fix a craniofacial patient's skull, but how could
they know what the result would look like in five years or 20 years?
The skulls of infants change. So knowing more about growth patterns
could help surgeons refine their sculpting.
Richtsmeier and her colleagues had also begun to develop a technique
to see how a skull would change if it followed a particular growth
pattern. One day, perhaps physicians could use the technique to
render 3-D computer predictions of a patient years after surgery.
But this research was very slow and painstaking. It took years
to collect data on growth in craniofacial patients. Moreover, there
was no comparable, three-dimensional database of "normal" skull
growth. So Richtsmeier lacked a standard for comparison.
0n December 8, Richtsmeier's original due date, Faith finally came
home from the hospital. Though four months old, Faith weighed just
four-and-a-half pounds. Her parents spared no detail in celebrating
the occasion. "We gave her her wedding for her christening," jokes
Richtsmeier.
Richtsmeier knew, however, that she still had to attend to Faith's
sagittal synostosis. The idea of surgery terrified the mother of
three, and she kept that prospect largely in her private thoughts
for a while. She wanted Faith, still so fragile, to gain weight
and strength first. "I also wanted a month or so to get to know
her," states Richtsmeier. "To get used to her. I was so afraid that
she'd come back from the operation not quite right, that she would
have a stroke. She was such a little teeny thing."
After Christmas, Richtsmeier gently impressed upon her husband
what she had until then only mentioned briefly: "I think Faith has
sagittal synostosis. She's going to need an operation." Says Ryan
in retrospect, "It didn't surprise me."
When Faith reached five pounds, Richtsmeier and Ryan took her to
see Hopkins' Ben Carson, a world-renowned pediatric neurosurgeon.
He concluded that Faith definitely had sagittal synostosis. He had
operated on at least 100 infants and children with this and similar
conditions, using a procedure called strip craniectomy. In this
operation, he cuts away large sections of sagittal bone to form
a wide "alleyway" where a sagittal suture normally would be. ideally,
the alleyway makes room for growth of new sagittal bone and provides
the leeway for the brain to expand. The hope is that growth of the
brain molds the skull into a shape closer to normal. With craniectomy,
Carson told Richtsmeier, the brain, "takes a big sigh, and says
'Aaah."'
Cosmetically, sagittal synostosis patients do very well following
surgery. The condition is symmetric, and so the skull continues
to grow in a symmetric manner, even if the growth pattern is abnormal.
But, of course, the experience wouldn't be that simple. "It was
major, major surgery with an uncertain outcome," recalls Richtsmeier,
who knew far more than the typical parent about craniosynostosis.
It held risks of a stroke or brain bleed or worse.
If Faith did not have the surgery, she would continue to have a
bulging forehead and protruding back of the head. "She would get
made fun of," says Richtsmeier. "And you carry that around for the
rest of your life. We're a species that, by and large, communicates
through our face. if you look weird, people react to you differently."
Of greater concern to Richtsmeier and Ryan, however, was what Faith's
neurological outcome would be. Researchers hypothesize that sagittal
synostosis increases pressure on the brain. If that is true, then
cognition could be impaired. However, these conclusions are based
largely on indirect evidence. Measuring pressure on the brain requires
drilling burrholes in the skull, through which to insert pressure
sensors. Understandably, no one has ventured to seek volunteers
for such a study. Furthermore, virtually every child who is diagnosed
with sagittal synostosis has surgery. So there is no way to compare
the neurological results of children who've had surgery against
those who haven't.
"If she doesn't have the surgery, she'll be mentally retarded,
right?" Richtsmeier asked Carson.
"No, we don't know that for sure," Carson told Richtsmeier and
her husband. "But I'll tell you one thing, if this were my child,
I'd operate in a minute."
Richtsmeier and Ryan looked each other in the eyes, took a deep
breath, and signed on.
In early March, 6-month-old Faith had a craniectomy under Carson's
scalpel. The six-hour surgery went smoothly, and remarkably, Faith
was immediately able to be taken off the respirator.
When Faith was wheeled out of the operating room, Richtsmeier got
a glimpse of her tiny daughter. "She looked absolutely different.
I think we don't realize how much the shape of the skull affects
the appearance of the face."
The question still remained: what would Faith's prognosis be-both
cognitively and cosmetically-years from now?
Richtsmeier returned to the lab. Her colleagues had not found a
gene for sagittal synostosis. And she could find no distinct morphological
subclasses of the disorder. One thing that seemed clear, however,
was that isolated sagittal synostosis is not inherited. If a mutation
causes the condition, it arises spontaneously.
However, the researchers are still pursuing the search for subgroups.
Their original study involved only 23 sagittal synostosis patients-perhaps
too few to manifest subgroups. Richtsmeier has since begun collaborating
with Jeff Marsh '67 (MD '70), a plastic surgeon and craniofacial
researcher at Washington University School of Medicine, in St. Louis,
who has one of the largest databases of CT scans of craniofacial
patients. By pooling their data, the Hopkins and Washington University
teams might discover more about the various causes of craniosynostosis,
which would help surgeons plan the type and timing of surgery.
Richtsmeier did discover an important distinction between the sagittal
synostosis patients and children with normally shaped skulls. It
had to do with parietal bosses, the bony hillocks on the sides of
the head where the skull is widest. Richtsmeier found that the parietal
bosses are lower in patients with sagittal synostosis.
Scientists believe that the bosses represent regions where the
first bone cells of the skull are deposited during development in
the womb. The misplacement of the parietal bosses may be a cause
or a consequence of sagittal synostosis-Richtsmeier is not yet sure-but
either way, they could serve as diagnostic signposts for the condition.
Early diagnosis is very important because surgery becomes much more
involved as a child gets older.
As Richtsmeier proceeded with these studies, she began to see their
limitations. Her research, it seemed, examined just one end of a
broad continuum. At her end of the continuum was the visible outcome-the
growth patterns of the heads of children with sagittal synostosis
and other craniofacial abnormalities. "But these growth patterns
were just a continuation of some impetus put in place earlier,"
stemming from a mutation, perhaps, or from an environmental trigger,
notes Richtsmeier. Whatever it was, she began to realize that she
wanted to bridge those gaps along the continuum. To do that, she
had to learn a new science: molecular genetics.
Richtsmeier dug up a grant application that she had tucked away
in a drawer; the grant was for scientists who wanted to broaden
their skills. It was offered through the National Institute of Dental
Research. She applied, and was awarded the two-year senior fellowship
to train in genetics. She began her fellowship this past year at
Hopkins, learning molecular biology and genetics from associate
professor of physiology Roger Reeves, whose
laboratory is right upstairs from her own.
Richtsmeier is studying a mouse model for Down syndrome. Specifically,
she hopes to identify the fetal stage of development when the facial
features characteristic of Down syndrome first start to emerge.
Then she will hunt for the gene or genes responsible for initiating
those changes. Those genes, says Reeves, could be candidates for
other craniofacial abnormalities.
"I don't intend to become a molecular geneticist," she says. "But
at least I'll be able to speak their language."
Had she not given birth to Faith, notes Richtsmeier, she probably
never would have pursued this new direction of research.
Richtsmeier brews coffee in her spacious kitchen on a Saturday
morning in spring. She and her family live in a comfortable brick
home on a treelined street in a south Baltimore suburb. Almost four
years have passed since the birth of their third child.
Faith, notes Richtsmeier, has become a "data point" in her team's
sagittal synostosis studies. Richtsmeier had always been extremely
careful in respecting the privacy of volunteers and their families,
and in regarding them as people, not just numbers. But when her
daughter became a data point, she says, "it really gave me respect
for treating patients as data. I realized, this is somebody's heartbreak.
it was a real awakening-this is somebody's kid."
"It's been a huge turning point in my life," she says. Crises have
a way of diminishing life's minor annoyances, and shining the spotlight
on the things that matter. Like family. "Before, it was easy to
say, 'It's just baseball practice. I don't need to be there.' Now,
instead of working late at the office, I work when the kids go to
bed," she says. As she speaks, Luke and Hannah trample through the
kitchen. Luke is in between basketball games. Hannah is heading
out with a friend. Calm in the middle of this buzz of activity,
Faith sits at the kitchen table, contentedly coloring.
She is a striking child with an angel's golden hair, and a prettiness
that seems mature beyond her years. She looks like her mother. To
the naive eye, Faith's head would probably seem no different from
a normal child's. Richtsmeier points out, however, that it is unusually
long. She lifts Faith's hair to reveal a long scar that remains
from her surgery.
Like a sprite, Faith bounds around the room, with the elastic agility
only endowed upon a preschooler. She watches a cartoon, sings "Eensy
Weensy Spider," then runs downstairs to play "yeggoes" with Daddy,
and soon hurries back up.
"I'm hungry," she declares.
"Here's a blueberry doughnut, Faith," says Richtsmeier.
"I don't like blueberry," Faith replies, and proceeds to devour
it in two bites.
Faith is "a wild woman," says Richtsmeier with proud resignation.
"She's the most stubborn child in the world, and she's not afraid
of a thing."
Soon after Richtsmeier brought Faith home from Chicago, she began
taking her periodically to see Hopkins neurodevelopmental pediatrician
Marilee Allen at the Kennedy Krieger institute, which has a follow-up
clinic for children born prematurely. At every visit, Allen examined
Faith, and then reminded Richtsmeier of the long list of potential
health problems that her daughter still confronted: cerebral palsy,
blindness, mental retardation, etc. After every visit, Richtsmeier
would take Faith back to her sitter's, and then somberly return
to work.
On one visit when Faith was 2, recounts Richtsmeier, Allen ran
through the usual battery of tests and painted the usual bleak scenarios.
Faith seems a little loose in the hips, she told Richtsmeier. And
they would have to wait until Faith entered school to see whether
she would have learning disabilities. However, Allen said, Faith
was testing at or above the developmental markers for her age group.
Richtsmeier distinctly remembers what Allen said next: "Faith seems
to be normal."
Normal.
"I never thought I'd be happy hearing that word," says Richtsmeier.
She had always hoped that Hannah and Lucien would be "above average"
in some way. But now, "normal" was a reason for rejoicing.
Richtsmeier did not go back to work that day. Instead, she drove
home-flew, really-and opened a bottle of champagne.
By: Melissa Hendricks for Johns Hopkins Magazine (June, 1998)
Melissa Hendricks is the magazine's senior science writer. She
can be reached via e-mail at: mah@jhu.mag
Last Updated:
7/10/02
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