- Associated Press - Monday, April 28, 2014

FRIENDSWOOD, Texas (AP) - When Nola was 4 months old, Shiloh Carter figured out that a spirited rendition of the Tickle Monster, combined with chomp kisses, could make her youngest daughter breathless with giggling.

By the time Nola was 9 months old, Shiloh and Derek Carter had learned that Bob Marley tunes could set their blonde dynamo to dancing.

Before Nola turned 1, the Friendswood couple started a college fund for their headstrong toddler who was too busy crawling to bother with walking.

Then they found out Nola was dying, slowly.

Now, they’re finding out how to fight.

The name first thrown out to the Carters was a tongue-tangler, mucopolysaccharidosis. Five weeks later, the diagnosis was honed to Sanfilippo syndrome A, a version of the disorder that involves a genetic error, a missing or defective enzyme, progressive brain damage and an early death, often by age 10.

“When I first heard it, in my stomach, there was like a pit inside of me,” Shiloh, an attorney working with the University of Houston Law Center, told the Galveston County Daily News (http://bit.ly/RMMOyY).

She spoke rapidly, pushing aside tears, as she recalled the day a routine one-year exam turned doom and gloom.

“Your child is born so perfect and for the first few years of life, the personality flourishes and you just get to see, to learn who they will be,” she said. “Then, all of a sudden, that starts to slip away because the brain damage starts to take its toll. They stop walking. They stop talking. All the skills they had, they no longer have.”

Since the diagnosis a month ago, the Carters have called, used Facebook, scoured the Internet and relentlessly emailed for information. Helping them have been University of Texas Medical Branch physicians Dr. Michael Binder and Dr. Reuben Matalon, known for his research in enzymes related to mucopolysaccharidoses.

The two men came into the story in January. In the midst of Nola’s one-year exam, Binder tag-teamed with Matalon, suspicious that developmental delays were actually signs of the rare genetic disorder found 1 in every 70,000 births. As a result of their quick work, Nola is probably the youngest child in the world with her specific diagnosis.

She also is a prime candidate for a gene therapy clinical trial planned at Nationwide Children’s Hospital in Ohio later this year. The treatment involves recoding a patient’s gene, putting it inside a virus then inside the patient’s spinal cord to travel to the brain. The treatment attacks the defective DNA and replaces it with correct DNA, then the body starts producing the missing enzyme.

“Effectively, it would be a cure,” said Derek, a sixth-grade science teacher at Alvin Junior High School.

Parents around the world have formed a fund drive, Team Sanfilippo, to spur on the clinical trial.

“It was all these parents saying, even if our kids won’t be able to get this treatment, even if it won’t happen in their lifetimes, we don’t want other families to have to go through this,” Shiloh said.

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