Julia, 7,
has a rare blood disorder called Glanzmann's thrombasthenia. Mrs.
Smith, through the Glanzmann's Research Foundation, a nonprofit
organization she founded, helps raise money for research to find
a cure.
"The
year she was born, there were only 200 reported cases" of
the disease, said Mrs. Smith, whose organization will be the beneficiary
of a fundraising dinner at the National Science Center's Fort
Discovery in March. The event will feature a silent auction with
items such as a celebrity hunting weekend.
Julia was
diagnosed with the disease when she was about 6 months old.
There were
some complications when Julia was born, and she spent the first
two weeks of her life in intensive care.
"She
was covered in bruises" after birth, Mrs. Smith said. "She
was bruised in places you don't have bruises."
Routine blood
tests didn't show anything, she said.
At the time,
Mrs. Smith and her husband, Dr. Alan Smith, were living in Birmingham,
Ala. The family returned to Augusta to visit Mrs. Smith's parents.
During the
visit, Mrs. Smith was awakened in the middle of the night by her
daughter's cries. When she went to check on Julia, she found her
covered in blood from a simple scratch on her face..
Mrs. Smith's
mother, Anne Proctor, worked at the Medical College of Georgia's
pathology lab. Mrs. Smith took her daughter to MCG and asked that
every test be done to find out why Julia bled so profusely.
The Smiths
moved back to Augusta the next month.
When Mrs.
Smith was told what was wrong with her daughter, that people with
GT are missing a protein that helps blood to clot, she wanted
to learn more about the disease.
"I found
a blurb in the back of a medical journal, and that was it,"
she said.
She said she
spent a lot of time on the Internet putting her e-mail address
and phone number on the registries of different sites for people
with rare disorders in the hopes of locating someone else with
the disease.
In the summer
of 2001, a grandmother of a GT patient from rural Ohio contacted
Mrs. Smith and gave her $1,500 that she had raised through bake
sales and softball tournaments. The woman wanted the money to
help others with GT, Mrs. Smith said.
At first,
Mrs. Smith thought she'd donate the money to a hemophilia research
foundation, but then discovered that David Wilcox, of the Medical
College of Wisconsin, was conducting research on GT. That, she
said, spurred her to start the nonprofit.
There are
few treatments for the disorder, she said, and the ones that do
exist are costly and some have their own dangers. Treatments include
bone marrow transplants and platelet transplants. The Smiths have
tried one medication, but a three-day supply is $20,000.
Mrs. Smith
said her initial plans were to keep Julia "in a bubble,"
but Julia has an 8-year-old brother, Milledge, and keeping them
from playing together was impossible.
Julia has
frequent nosebleeds, and she can't walk for a long time or take
part in some types of physical exercise because she bleeds behind
her knees.
In October,
Julia had a stomach virus, Mrs. Smith said, and her vomiting caused
internal bleeding.
Over the past
few years, Mrs. Smith has worked on several fundraisers for the
foundation.
The first
golf tournament nearly five years ago raised $5,000, and almost
all of the proceeds go directly to Dr. Wilcox's research.
"It doesn't
pay for his salary or overhead. The Glanzmann's Research Foundation
is me. I just need the basic supplies," she said.
Dr. Wilcox
attends the fundraisers and talks about the progress of his research.
The fundraisers
have developed into reunions of sorts as people from across the
country who have GT travel to attend, Mrs. Smith said.
Those with
GT and their family members stay connected through the foundation's
Web site, www.glanzmanns.com.
Mrs. Smith
believes that one day there will be a cure for GT.
"I'm
excited about that," she said. "I hear about things
and feel I can help make a difference. We're going to conquer
it, get rid of it. I'm sure of it."
