Breakthrough - Osteogenesis Imperfecta Foundation

metabolic research Center Continued from page 1
cians and investigators has led to the discovery
of the genetic causes of ten heritable
bone disorders— and the relief
from other painful bone diseases for
nearly 1,000 children in the past 20 years.
“The Shrine has created and nurtured
a facility that I think is unparalleled for
diagnosing, treating and researching pediatric
metabolic bone disease,” Whyte
said.
Children with these conditions may
have brittle bones, such as osteogenesis
imperfecta, which Alex has, or soft
bones, involving various forms of rickets.
The research center sees children
from all over the world with rare, complex
and genetically-transmitted bone diseases.
Changing Children’s Lives
“Children with these types of disorders
often suffer from bone pain, and find
their way to the Shrine’s research center
only after seeing many different physicians
and specialists,” stated Judy
Hartman, research center nurse manager
and editor of the OI Foundation’s
newest resource, OI: A Guide for
Nurses.
Hartman’s work to help educate pediatric
nurses about metabolic bone diseases
recently resulted in her election to
the presidency of the Pediatri Endocrinology
Nursing Society, an international
nursing organization dedicated to nurses
who specialize in children’s metabolic
diseases.
“Our patients come here not only for
diagnosis, but also for medical therapy
and orthopedic treatment,” Hartman
said. “The result is that many children
who have been suffering can now play
and have fun with their friends. We can
often give them their childhood back.”
Hartman heads a dedicated nursing
staff, an integral part of a team that also
includes laboratory and nutritional services
staffs. These team members believe
that the care of the patients demands
the highest level of expertise and
proficiency, as well as the development
of close relationships with the children
and the families.
“I think the people at the research center
are wonderful,” Hunter said. “They
helped us find the support groups and
information we needed. It was a great
relief because then we knew we could
call any time for advice, or just if we
needed a sounding board.”
Continued...
Scientific Breakthroughs
Many of the research center’s collaborative
studies have resulted in breakthroughs
in understanding the genetic
causes of bone diseases. One of the most
recent is last year’s discovery of the
genetic cause of juvenile Paget’s disease
(JPD), a rare condition of accelerated
bone formation and breakdown.
Whyte and his team used information
from the Human Genome Project to unravel
the mystery that has been reported
in only about 40 people worldwide.
“By identifying this identical genetic
defect, our results not only provide insight
into the cause of JPD, but also shed
light on the control of bone metabolism
in general,” Whyte explained.
20 Years of Making a Difference
For the past two decades, the research
center has acted as an international resource
for assisting other physicians with
difficult diagnostic and therapeutic problems.
As a result, Whyte and his team serve
to train and collaborate with orthopedic
surgeons, geneticists, endocrinologists,
rheumatologists, and molecular biologists
in the description, treatment and research
of bone diseases in children.
“The center is an excellent example
of how this research is taken to the bedside,”
said Perry L. Schoenecker, M.D.,
chief of staff at the St. Louis Shriners
Hospital.
“People often think of research as
laboratory work, but this is research that
is making a difference today in the lives
of the children we serve.”
Alex and his family say they are indeed
grateful for the difference the research
center has made in his life. He
recently fell down half a flight of stairs
at school without fracturing.
“For him to fall and not have anything
broken is a miracle,” Hunter said.
Alex, who gives presentations at his
school to help educate his classmates
about OI, agrees.
“The people at Shriners care for you,”
Alex said. “They’ve made a huge difference,
I love going there.”
2004 Conference Hotel Reservation Information
To reserve your accommodations at the Adam’s Mark Hotel in Dallas, TX, call 1-800-444-
ADAM or 1-214-922-8000. Be sure to mention that you are coming to the OI Foundation National
Conference in order to receive the discounted room rate of $109.
Click on the 2004 Conference Information link on the News & Events page of www.oif.org to find
a number of links related to the conference, travel, the Dallas area tourism and the Adams Mark
Hotel. You may also make your reservations online at www.adamsmark.com/dallas, but you will
not receive the discounted rate using the online booking agent.
Page 13 Breakthrough Winter 2004