Salt Lake City – 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 electrical 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 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
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 out 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 further. 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 this 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.
(The Salt Lake Tribune is a member of the ap News
Service.)
