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Families raise awareness about rare disease

Helped get first Rare Disease Day in the state

Thursday, February 10, 2011 - 5:51pm

BATON ROUGE, La (Fox44) -- Local moms are banding together to raise awareness of an extremely rare disorder, so unusual that some doctors have trouble diagnosing it.

Ten-year-old Fiona Craig has a genetic disorder most people have never heard of. "They say, what's that?" she says when she tells people about her problem.

Fiona's had a tough ten years. In 2003, she went into a catatonic coma. Doctors ran various tests, but nothing seemed to add up. "They could not figure out what was wrong with her," mother, Jill Craig, says. Finally, they diagnosed Fiona with a blood disorder and sent her home. For four more years, her family lived in constant fear that she would succumb to another attack.

In 2007, her sister Zoiey was born. She was diagnosed with a genetic disease called very long-chain acyl-coenzyme A dehydrogenase, or VLCAD for short. Her symptoms were similar to Fiona's. When tested, Fiona was also diagnosed with VLCAD.

"I'm scared. Sometimes, I have to end up in the hospital because bad things might happen," Fiona explains. 2008 was a difficult year for the Craigs. Fiona ended up back in the hospital, and Zoiey died from the disorder.

"She has fought so hard," Craig says of Fiona. "Her will to live is so strong."

Now, Fiona has certain things that she has to do to stay healthy. "I can't eat really fatty foods like some people do," she says. "But it's okay. I'm used to it."

Two-year-old Kelli Guillory has VLCAD too. Her mother, Jennifer, met Jill and Fiona through a support group for families with children who suffer from the disorder. Kelli's mutation of the deficiency extremely rare. Her disorder is the only known type in the world. For her, something as average as catching a cold could be extremely dangerous.

"She was hospitalized 24 times in her first year," says Guillory. At two-years-old, Kelli has already undergone emergency surgery.

Guillory says, often times, VLCAD is misdiagnosed. "A lot of babies could have been saved if they'd been diagnosed at birth," she says.

That's why she and Craig want to raise awareness. "If you don't know, how are you going to fight it? You can't fight an unseen foe," Craig says.

The women are making strides. Guillory came across a website for Rare Disease Day. She noticed that Louisiana did not have a day dedicated to rare diseases, so she decided to get in touch with Governor Bobby Jindal to make it happen. Just days ago, Governor Jindal proclaimed February 28th the first ever Rare Disease Day in Louisiana. "I was thrilled," says Guillory. "I didn't know what to expect."

She and Craig hope that Rare Disease Day will help raise awareness about the many different types of VLCAD deficiences out there, and she urges mothers to test for the disorder in newborns. "Make sure its in your newborn screening. Make sure your baby is tested for genetics."

She says the more you know, the easier it will be to fight the disorder. "We want to let people know that this is out there, and if you watch it closely, you can help prevent so many things."

The hope is to give more parents the fighting chance to watch their children grow up. "You just have to be your kids voice and fight for them," says Guillory.

Learn more about screening for VLCAD at http://www.newbornscreening.info/Parents/fattyaciddisorders/VLCADD.html

You can also check out some of these sites to learn more about the disorder

http://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coenzyme-a-dehydrogenase-deficiency

http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=5508

You can also read up on Rare Disease Day online at http://www.rarediseaseday.org/

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