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SALT LAKE CITY (AP) -- In a small, dimly lit room at Primary Children's Medical Center, Liam Russell's small hands tremble. His thick hair tousled from his winter hat, the toddler watches SpongeBob SquarePants on a portable DVD player as strangers swarm around him.
Under the spell of sedation, Liam hardly notices the metal barbs neurologist Kathryn Swoboda gently presses into his right wrist, or the electric shocks stimulating his ulnar nerve. His eyelids heavy, he fidgets with the electrode taped to his right hand as it measures the nerve's response and spits out wavy lines on a computer screen.
The 2-year-old endures such testing as one of the first and youngest children in the country trying an experimental drug treatment for spinal muscular atrophy, a crippling genetic disorder.
Swoboda, an assistant professor at the University of Utah School of Medicine, is the principal investigator of a one-year, $2.5 million clinical trial to study the drugs' effectiveness in 90 children, ages 2 to 17.
"What are your medicines called?" asks Ben Russell, Liam's father. "Carnitine? What else?"
"Valproic acid," Liam answers in his tiny voice.
His parents let out a half-hearted cheer. The Russells are visibly beat from their trek from Portland, Ore., to Salt Lake City on Dec. 6. It's a journey they've made four times with Liam -- and will make again for the last time in June.
The trial doesn't offer a cure, they know. But it gives them hope.
Around Liam's first birthday, after a weeklong battle with bronchitis, he stopped crawling and pulling up onto his knees.
His pediatrician reassured Lynn, his mother, that children develop at different rates. But Lynn, still worried, asked the doctor to make a home visit. The doctor grew concerned when Liam hardly flinched during a vaccination and she saw his low muscle tone.
Ultimately it was the tremor in Liam's hands that helped a pediatric neurologist crack the case in July 2005. A blood test confirmed he had SMA.
SMA affects motor neurons, or nerve cells in the spinal cord, that send fibers out to control muscles throughout the body. Those cells need certain proteins to stay healthy -- but in people with SMA, the gene that produces those proteins is missing or mutated.
Liam's hands were trembling because he had fewer neurons communicating with muscles in his hands, amplifying a natural quiver that is typically unnoticeable in others.
SMA affects the voluntary muscles used in crawling and walking, as well as those in the chest wall used in breathing and coughing. For that reason, SMA can lead to pneumonia and other lung problems.
What the future holds for children like Liam, born with less-severe Type II SMA, is uncertain. Possibilities range from an early death due to respiratory complications to living into his 60s, but with severe scoliosis and rigid muscles in his arms and legs.
Swoboda was first drawn to children with SMA eight years ago, while doing her neurology training at a muscular dystrophy clinic in Boston.
"It was just incredibly frustrating year in and year out," she said. "We basically told (the families of children with SMA I) there's nothing we can do. We'll get you hooked up with hospice. As kindly as we could, we set them up for these children to die."
But many didn't.
"They can linger on and on and then there are all of these kids who are weaker, but are not so weak, and then no one was being aggressive with their care," she said.
Then in 1995, in the middle of Swoboda's training, scientists discovered the genes linked to SMA -- SMN1 and SMN2. The breakthrough paved the way for researchers to investigate drugs such as valproic acid, a federally approved drug used to treat epilepsy, psychiatric disorders, migraine headaches and pain.
"It was the first opportunity to do something," said Swoboda, now an expert in the diagnosis and management of children with neuromuscular disorders.
Valproic acid has been shown to increase the protein critical to the health of motor neurons, she explained.
"So, in principle, if your nerves aren't too far gone, you could potentially rescue them and have them come back," she said.
In the days after Liam's diagnosis, Ben, a general contractor, slept in 20-minute increments, waking up in cold sweats with his heart racing, he said. When he could work, he threw himself into menial tasks. He once spent eight hours shoveling gravel.
"I didn't see how it could ever go away," he said.
Lynn started talking to a Pennsylvania psychologist whose son also has SMA. "When do you not wake up every day and feel like this is the worst thing ever?" she asked him.
They sold their multi-story house in Portland, opting for a single-story home they made wheelchair accessible. They traveled to Cambridge, England, to buy Liam a $24,000 elevated power wheelchair, called the SnapDragon, engineered by a man whose daughter also has SMA.
Their insurance company wouldn't cover the wheelchair -- and other equipment Liam needs -- because it doesn't cover "power mobility," it said. The Russells appealed to the Oregon Department of Consumer and Business Services' state insurance division, but they ultimately lost.
Most painful, as Liam has grown, are his "little looks," the Russells said, and his questions.
"Babies can walk," he said to Lynn one day.
"Yeah, some do," she said.
"Liam doesn't walk," he said.
"Yeah," she said.
"Why?"
"I don't know."
The Russells began seeking treatment options for Liam when he was 20 months old and discovered Swoboda's clinical trial, funded by the Libertyville, Ill.-based Families of SMA. Although her Salt Lake City site was full, Swoboda agreed to enroll the toddler.
They've discovered there are things Liam hates more in life than getting his blood drawn. Garlic is one. Salad is another.
"Salad is not OK," Ben told Swoboda during Liam's September trip to Primary Children's. "A little speck of cilantro, and he asks, 'Is that salad?' You have got to be careful not to give him anything that can be considered salad."
On this day, during his December visit, Liam has not had anything to drink or eat. He fights tears as Swoboda tries to insert a needle into his arm.
"I'm sorry, lovebug," she said apologetically. "We're close." She turns to an assistant. "He's dry."
They give him a cup of apple juice. Liam, who has become "floppy" from the sedative, spills a little down his chin. "I dribble," he said.
They try again, this time tapping a vein and drawing thick, dark blood into a plastic tube.
"It was a tough day today, but we've got some good presents," Swoboda said, pulling out a small stuffed Koala bear and a finger puppet, one of dozens she picked up on her last trip to Lima, Peru.
Liam's day, however, was not over.
Next, his parents covered his mouth with a mask connected to a CoughAssist machine. The positive-pressure device helps Liam's chest expand and expel mucus, Swoboda said.
Then his parents walked him over to the University of Utah Medical Center, where a bone density scan revealed loss of bone mass in his trunk, arms, legs and shoulders. The X-ray machine moved over his body about 1 centimeter every couple of seconds -- and when he squirmed, the technician had to begin again.
"You want to close your eyes?" she asked.
"I can't see!" Liam answered.
"You can dream," she suggested. "Then you can tell me what you're dreaming about."
For the first six months of Swoboda's clinical trial, half of the children received the valproic acid, along with carnitine. The carnitine -- a nutrient that helps the body turn fat into fuel -- replaces that which is depleted by the valproic acid, she explained.
The other children were given a placebo.
Neither the patients and their families, nor Swoboda, know which children -- at six sites around the country -- received the drugs.
Both Swoboda and the Russells speculate Liam was receiving the valproic acid and carnitine. Swoboda noticed Liam's weight gain and the Russells, Liam's ability to roll himself over and scoot down his bed.
"The improvement I've seen -- I mean, it's not a miracle, it's not like, 'Oh my gosh, he doesn't have SMA' -- but little things that we take for granted, that able bodied people don't notice," Lynn said.
Liam can reach farther. His trunk is stronger. And he can stand for 30 to 40 seconds at a time without being strapped into his pediatric mobile stander, "which is huge," Lynn said.
Now, all 90 children are on the drug regimen, and Swoboda is cautiously optimistic about how well it will work. She's keeping a close eye on potential side effects, including weight gain, which could put Liam and the other children at higher risk for problems such as diabetes.
"I don't view this as a cure. It's not," she said. "But it's better than anything we've got. If you can give them an edge, they can have a very productive life. I'm willing to take baby steps."
At the end of Liam's two-day visit earlier last month, his parents put him back in his SnapDragon, or "Snappy," as they call it. At full speed, it can race up to 6 mph.
The toddler grabbed his joystick-style steering rod and sent the machine flying out of the medical center's revolving doors and toward the street curb.
"Liam! Stop!" his parents yelled, chasing after him.
It's a job they hope they'll have for many years to come.
(Copyright 2007 by The Associated Press. All Rights Reserved.)
