FRIENDSWOOD, Texas -
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.
Symptoms often appear after the first year of life. A decline in learning ability typically occurs between ages 2 and 6. The child may have normal growth during the first few years, but final height is below average. Delayed development is followed by deteriorating mental status.
Other symptoms include:
Coarse facial features
Heavy eyebrows that meet in the middle of the face above the nose
Stiff joints that may not extend fully
SOURCE:?National Institutes of Health
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," said Shiloh, an attorney working with the University of Houston Law Center.he 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.
So, the Carters, including their oldest daughter Caden, 6, are teaming with family and friends to plan fundraising events ranging from T-shirt sales to pancake dinners. They also work to spend more time together as a family.
"It's been rough; it comes in waves, and a bit of depression, just trying to live day to day and not think too much about the future, at least the negative effects of the future," Derek said.
Shiloh said, "You feel like everything is tinged with sadness. You're trying to spend quality time with them and enjoy the time you have, but it just seems to invade everything."
Nola is oblivious to it all. She goes to physical therapy and speech therapy sessions weekly, is edging around tables now and babbling away. Shiloh still pulls out the Tickle Monster for giggle sessions.
"Even if the gene therapy doesn't work, or if she doesn't get in, we are trusting that God will give us the strength to be here for her as the disease progresses, that we will be the parents she needs us to be," she said.