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News from S. Francisco Chronicle -
SFGate.com June 2, 2007
SOUTH SAN FRANCISCO
Family's fundraiser a race against time
Girl's rare disease spurs all-out drive to help pay for lone
doctor's research into a possible treatment
Ariana Kallas zooms around in a walker like she's driving a race car,
flying around corners and bumping into tables and chairs, or her
parents' legs. And then she laughs.
It isn't immediately obvious that Ariana, who turns 2 in a month, is
disabled. But her forearms are slightly bent and her legs curve in,
and she can't walk yet. At the end of August, she's scheduled for
surgery to fuse together several weak vertebrae so she doesn't
accidentally break her neck.
The extremely rare disease that plagues Ariana, called
Morquio syndrome, is causing bone deformities, and she will
essentially stop growing by age 8. Only 350 people in the country
have the disease. Most sufferers eventually have heart and lung
problems. Very few live past age 30.
"There are so many diseases they've found cures for, and maybe 10,
15 years from now, they'll find something for her," said Ariana's
father, George Kallas, watching his daughter at the bar his family
owns in Belmont. "But we've got to do something, and the sooner the
better."
Tonight, Ariana's relatives are holding a benefit dinner at
Annunciation Cathedral in San Francisco, where they hope to raise
$100,000. None of the money will go to Ariana, whose health care is
covered. It will all go to Dr. Shunji Tomatsu, the one doctor in the
United States who has spent his career trying to find a cure.
Because Morquio is so uncommon, federal funding is nearly impossible
to come by, and most pharmaceutical companies aren't willing to pay
for expensive research for a drug that very few people will use.
That's where the real frustration sets in for families like the
Kallases. After 25 years of research, Tomatsu, an associate
professor of medical genetics at St. Louis University, has developed
an enzyme replacement therapy that shows promise fighting Morquio in
mice. But he lacks the funding to start clinical trials on the first
human subjects.
"Because so few kids have it, there's no federal aid at all," George
Kallas said. "Dr. Tomatsu has grants that give him $60,000 for two
years, but what can that do? Turn on the lights? I'm sure it takes
millions upon millions to start trials."
Actually, it could take more than $20 million -- and five years --
to run the clinical trials that are needed to get approval from the
Food and Drug Administration, Tomatsu said. And that's assuming the
enzyme therapy works.
"It's so important to develop this drug, to help this small
population," said Tomatsu, who moved to the United States from Japan
12 years ago to find better resources for his research. "I can't
ever stop my work. The Morquio families would lose ground and be
quite disappointed. My motivation is really coming from those
families."
The therapy, if it works, would not cure Morquio. It would have no
effect on bone deformities that are already apparent, but it could
prevent further problems.
While funding is on hold, Ariana and other children get
progressively worse and develop irreversible bone damage.
Ariana is a bright, boisterous toddler, with long brown hair and
chubby cheeks. She's chatty and not at all shy, and doesn't mind
telling her older brother, Andrew, to back off when he's trying to
take a toy.
She seemed fine at birth, but at around 7 months her parents noticed
bumps on her back that weren't going away, and she wasn't able to
sit up. They took Ariana to her pediatrician.
Months of exams and diagnostic tests followed. Her doctors ran
through so many blood tests -- all of which showed Ariana was fine
-- that her parents started hoping that maybe they were wrong, and
their little girl would be OK.
"She still looks so normal," said Bertha Kallas, watching Ariana
play with her brother. "But any time I go to a doctor's appointment,
I'm a mess for a few days. It's like a dose of reality. I think
about how it's going to be as she gets older and goes to school, how
she'll make friends. She's going to have so many challenges."
Morquio falls into a class of conditions known as "storage diseases,"
which are marked by a missing enzyme that prevents the body from
breaking down chains of sugar, called mucopolysaccharides. Because
the sugar chains cannot be processed, they can't be used to build
bone and cartilage and they remain stored in cells, causing damage.
The disease is inherited, and both parents must carry the gene for
it to be passed on to their child. Neither of the Kallases was aware
of carrying the gene, and neither can recall any family member
having the disease. The genetic mutation is so unusual that when
Ariana was first diagnosed, a doctor asked whether George and Bertha
were related. (They aren't.)
The Kallases, who live in South San Francisco, were crushed when
they first got Ariana's diagnosis -- just a couple weeks before
Christmas. But by early January, they had contacted Tomatsu and were
organizing fundraisers. In addition to tonight's event, they've
raised more than $55,000 selling T-shirts and bracelets, and
collecting donations.
And they do this knowing that Ariana may never benefit from the
research.
"When Ariana does grow up, I want to be able to look her in the face
and tell her we tried every single thing we could," George Kallas
said. "If we did something that could help her, wonderful. And if
it's not in time, at least we did everything we could."
Online resources
For more information on Morquio, go to:
links.sfgate.com/ZFM
links.sfgate.com/ZFN
To donate to Morquio research, go to:
links.sfgate.com/ZFO
E-mail Erin Allday at
eallday@sfchronicle.com .
http://www.sfgate.com/cgi-bin/article.cgi?f=/c/a/2007/06/02/BAGRPQ485940.DTL&feed=rss.bayarea
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