Kelly conquers spina bifida
The only thing more frightening to
Kelly than going into surgery for the 29th time was saying goodbye to her family on
the first day of college. "It was the scariest day of my life," she
recalls about her send-off nearly two years ago. But this year, she could hardly wait
to start her junior year, where she thrives among friends, is a
member of the swim team and where she is pursuing a meaningful career goal.
For Kelly, college is a mark of her tenacity and hard-won
independence. Twenty years ago Kelly was born with spina bifida. One of the most
common birth defects, spina bifida affects one in 1,000 children in the U.S.
annually. Children with severe spina bifida are born with holes in their lower
backs, leaving the spinal cord and central nervous system exposed. While the
specific cause is unknown, scientists know the defect occurs very early in
embryonic development. Researchers at Children's Memorial Hospital are pursuing
some promising genetic investigations.
Spina bifida affects motor, kidney and cognitive
functions and can cause paralysis and incontinence. To manage the frequent and
potentially life-threatening complications, children with spina bifida require a
multidisciplinary team of pediatric specialists as they grow. "A career in
pediatric neurosurgery means caring for children throughout all stages of their
lives," says David
G. McLone, MD, PhD
. McLone, who holds an endowed chair in
pediatric neurosurgery, founded the spina bifida program at Children's Memorial
25 years ago. "I've met most of my patients within hours of their birth and
watched them grow up."
Complex care for a complex disorder
McLone is one of the
world's experts in treating children with spina bifida. Today, the team he
assembled is helping Kelly and thousands of children like her achieve levels of
independence once thought impossible. With nearly 1,500 patients seen annually,
Children's Memorial has the largest volume of any other spina bifida center in
the U.S. Patients come from all over the over world to access the care.
Because of the complex nature of this disorder, it's common for children with
spina bifida to undergo dozens of procedures in early childhood. When she was
just a few hours old, Kelly had her first major surgery — delicate neurosurgery
to close her back and protect her exposed spinal cord. She had a second surgery
10 days later to place a shunt in her brain to control the hydrocephalus, or
build up of cerebrospinal fluid, that occurs in 90 percent of patients. Prior to
the routine use of shunts, hydrocephalus was the leading cause of death for
children with spina bifida.
Next to hydrocephalus, kidney failure caused by
obstruction or back up in the urinary tract presents one of the greatest risks.
According to McLone, the biggest change in improving the length and quality of
life for patients in the last 25 years has come in the area of urology with the
routine use of clean intermittent catheterization (CIC). Head of Urology and the
Urodynamics Lab, William
Kaplan, MD
, agrees. "Clean intermittent catheterization has totally
revolutionized the way we treat spina bifida patients," he says. "With this
method, we can teach kids as young as four and five years old to catheterize
themselves and go to the bathroom by the clock since they have no sensation. Our
Urodynamics Lab is the lynchpin of this work."
Advanced diagnostic equipment and testing in the lab allows Kaplan and
his team to measure incremental changes in bladder pressure, capacity and flow,
and to develop individualized plans to keep patients dry — a crucial step for kids
to integrate into full-day school programs. The plan may include catheterization
and medication or a more specialized procedure such as bladder stimulation,
which "teaches" neurologically impaired bladders to function using mild
electrical stimulation. Considered the national expert in this non-surgical
technique, Kaplan has improved bladder function in nearly 80 percent of his
patients. When non-invasive measures fail to protect children's kidneys,
Kaplan's team of surgical urologists can perform the most advanced surgical
reconstruction techniques.
Another profound effect of spina bifida is the loss of motor function. Most
children need assistance from specialized braces, crutches or a wheelchair.
Kelly, who uses crutches for short distances and a wheelchair for longer ones,
recalls being bothered by stares from other children. She learned to explain,
"My legs don't work like yours."
In the spina bifida program, the goal of orthopaedic
surgeons Luciano
Dias, MD, and John
Sarwark, MD , division head of orthopaedics, is to
help kids' legs and spines work as well as possible. "We want children to
achieve effective mobility with minimal restriction," says Dias, medical
director of Children's Memorial's Motion
Analysis Center
. Using three-dimensional technology developed
for video games and film animation, the Motion Analysis Center helps detect and
diagnose subtle locomotion problems that are not apparent to the naked eye.
Through electromyography, markers attached to the skin record muscle movement to
generate computer images of a patient's gait. This technology helps the motion
analysis staff, including a biomedical engineer, kinesiologist and a physical
therapist, develop a treatment plan of physical therapy, braces or surgery.
Advances in care
Medical technology to assist in
the diagnosis and treatment of spina bifida patients has come a long way since
Kelly was born. When Maribel, mother of two-month-old Gabrielle, discovered
from an ultrasound and alfafetaprotein (AFP) test 21 weeks into her pregnancy
that she was carrying a child with spina bifida, she had an option unavailable
until just a few years ago. She elected to have fetal surgery to close the
lesion on her unborn baby's back. "We're predicting that early closure of the
back will minimize some of the serious neurological complications associated
with spina bifida," says McLone, who participates in a National Institutes of
Health committee that is examining treatment outcomes. Children's Memorial is
following six children who have had fetal surgery. McLone also oversees
Children's Memorial's Spina Bifida Genetic Research Project, which is collecting
genetic samples from patients' family members in an attempt to identify abnormal
gene sequences.
Caring for children with spina bifida requires an uncommon degree of
communication between physicians and extreme vigilance on the part of families.
"Mistakes can be very expensive for the child," says McLone. A slight decline on
a muscle test or change in bladder or bowel function may indicate a serious
underlying complication such as a shunt malfunction or a tethered cord, in which
the spinal cord attaches to surrounding tissue and is prohibited from moving
freely. Both need immediate intervention to prevent permanent and irreversible
damage.
Beyond childhood
Studies have shown better outcomes for patients treated
in multidisciplinary settings. All of the services in the Spina
Bifida program, including the Urodynamics
Lab
and the Motion Analysis Center, are
now housed in one location at Children's Memorial's Outpatient Center just
blocks from the hospital.
With his expertise in spina bifida, McLone has fostered a growing adult
population of spina bifida patients who need minimal assistance to remain
independent. For them he is working on Anixter Village, a 24-unit transitional
housing facility for young adults with disabilities. Collaborators include the
Anixter Center, the City of Chicago and the U.S. Department of Housing and Urban
Development.
Kelly is living proof that people with spina bifida can lead full
and productive lives. Of her experience she says, "I'm much more accepting of
other people." Today, this champion swimmer and summer camp counselor is
actively working to change the perception of people with disabilities. She is a
visible presence on campus — leading freshmen orientation and helping to form an
advocacy group. Kelly is getting her degree in social work and hopes to use her
personal experience to help other children succeed.
Children's Memorial Hospital seeks philanthropic funding to enhance its
programs and services. As a proud partner of the Children's Miracle Network
(CMN), all funds raised in the Chicago area through CMN also benefit Children's
Memorial. To find out how your support can help the hospital better serve
children and families, please contact the Children's Memorial Foundation at
773.880.4237 or Foundation@childrensmemorial.org.
Or visit our Web site at www.childrensmemorial.org.