Osteogenesis Imperfecta Clinic
The
Osteogenesis Imperfecta Clinic at Children's Hospital & Medical
Center is recognized worldwide for its expertise and leadership in
treating children with brittle bone disease, also known as
osteogenesis imperfecta (OI). In years past, many children with OI faced a future filled with pain,
bone fractures, surgeries,
casts
and immobility. However, today, thanks to advanced techniques like
those used at the OI Clinic at Children's, we offer many children the
opportunity to live a more active lifestyle and have hope for a brighter
future. As a regional center for OI treatment, approximately 80 percent
of patients travel significant distances to Omaha to seek treatment.
Our goal is to increase the quality of life for these children through
compassionate care, advanced medical options and continued research so
that we can find a cure for this genetic disorder.
Our staff
includes a team of multidisciplinary health care professionals who are
trained and experienced in treating and managing children with OI. Led
by medical director
Richard Lutz, M.D., fellowship-trained in pediatric genetics, endocrinology and metabolism, and
Paul Esposito,
M.D., fellowship-trained in pediatric orthopaedic surgery, the team
also includes physical and occupational therapists, an audiologist,
dietitian, nurses, nurse practitioners and radiology technologists, all
working in one location to make the care process more convenient and
comfortable for you.
What Is Osteogenesis Imperfecta?
Osteogenesis imperfecta (OI) is a genetic disorder that primarily
affects the body's ability to produce collagen found in bones and other
tissues. As a result, bones are brittle and break easily. Other possible
symptoms of OI include curved bones,
scoliosis,
muscle weakness, joint laxity, fragile skin, blue sclera, brittle
teeth, breathing problems and shortness of stature. Hearing loss is also
common, especially in adulthood. The symptoms and severity of OI vary
greatly from mild cases that may go undetected; to moderate cases with
multiple symptoms and more fragile bones; to acute cases where life
expectancy may be decreased, largely as a result of respiratory failure.
OI occurs in males, females and all ethnicities. Although it can be
inherited, OI frequently appears in families with no previous history of
the disorder. This is due to gene mutation rather than any action taken
by either parent before or during pregnancy.
Treatment
Each child with OI is unique, not only as an individual but also in
diagnosis. Children's OI Clinic takes a highly personalized approach to
patient care. Individual treatment protocols frequently are adjusted
based on pain and fracture potential, age, growth and other key factors.
Physical and occupational therapies progress along with your child's
development. We listen to feedback from you and your child and seek
minimal treatment for maximum benefit. Since the majority of our
patients travel to Omaha from many states and several countries, we
interface with primary care providers and health agencies in your
hometown to safely administer medication and other therapies. We also
work with insurance companies to stress the role that early preventive
care plays in lessening the cost of care for osteogenesis imperfecta.
At Children's OI Clinic, we strongly believe in treating significantly involved infants early to decrease
bone fractures. This involves using intravenous bisphosphonate medications like
pamidronate,
which improves the density of bone and reduces the pain suffered by
your child. (This practice differs from many practitioners who don't
begin treatment until a child reaches the toddler stage.) However,
research is showing that early bisphosphonate treatment leads to a
better prognosis for decreased fractures and pain and improved
psychomotor development, leading to increased mobility, comfort and
confidence. We also have found that the earlier your child is treated,
the fewer number of surgeries he or she will need and the more normal
his or her growth and development will be.
Your child's
bone density
is measured and monitored throughout the treatment process with a Dual
Energy X-ray Absortiometry, or DEXA scanning. Unlike scanners that
measure bone density in adults, the high-tech DEXA scanner is gauged
specifically for children, including babies and toddlers. Our radiology
technologists have extensive experience in working with children and
osteogenesis imperfecta. We expose the children to the least amount of
radiation to obtain the maximum benefit.
Advanced Treatment
For children with moderate to severe OI, the combination of
bisphosphonate treatments that strengthen bones followed by the surgical
insertion of growing rods offers the greatest promise for improved
comfort, growth and development. The most commonly used rods are the
Fassier-Duval Telescopic Rods, which are inserted through relatively
small incisions often without postoperative casting.
The Children's OI Clinic embraced the procedure early on after
Dr. Esposito
received training from co-inventor of the rods, Francois Fassier, M.D.,
of Montreal. We have since built one of the most active programs in the
nation. Because of Dr. Esposito's interest in the care of these
children, he is often consulted by other pediatric orthopaedic surgeons
across the country.
Research
With the support of the OI Foundation,
Dr. Lutz and
Dr. Esposito
are collaborating with other OI centers, including the Kennedy Krieger
Institute at Johns Hopkins and the Shriners Hospitals for Children in
Chicago and Montreal, in an effort to find a cure for OI through
advanced research. While a cure is not imminent, other research being
conducted at our clinic will have a more immediate impact upon treatment
protocols for the disorder. Current studies involve data collected from
numerous growing rod surgeries, spinal deformity studies and
information regarding hearing loss in OI patients. Dr. Lutz and Dr.
Esposito also are widely published and are in frequent demand as
lecturers on the topic of OI. The goal of the team is to ensure that all
children with OI, regardless of where they live, receive optimal care.