LITTLE-KNOWN DISEASE LIMITS MOBILITY BUT JACKSON TODDLER IS STILL BOUNCING

The Terrible Twos for Jennifer Warner won't be filled with the same mischievous activities that most children experience.

Sixteen-month-old Jennifer, the daughter of Christy and Wayne Warner of Jackson, has been diagnosed with a muscular disease that limits her mobility.

Jennifer has spinal muscular atrophy. She was first diagnosed in May when she didn't begin crawling or moving with the aid of a walker.

Doctors examined Jennifer and sent her to St. Louis for more neurological testing. She was diagnosed there.

Although she can't move around as much as other toddlers, Jennifer compensates in other ways, her parents say.

"We don't give in," says mom Christy. "We expect her to do whatever she can on her own."

And that means reaching for toys or blocks scattered across the floor. "She's pretty independent and wants to do what she can do," Christy said.

Stacking blocks and reaching for toys are not just play activities for Jennifer. Five days each week she attends either a physical or occupational therapy session where that type of play is required.

Some of the activities that help to strengthen Jennifer's muscles are reaching for toys or popping soap bubbles.

Angie Tanner, an occupational therapist at the Pediatric SPOT, works with Jennifer twice a week. The Pediatric SPOT is a clinic associated with Southeast Missouri Hospital.

"We try to preserve the muscle strengths and functional abilities," she said. "We hope that through exercise we'll be able to delay progression."

To slow any further progression of SMA, the Warners do a lot of extra exercises with their daughter at home. Most of the exercises concentrate on keeping the range of motion she already has.

"She's still limber," Christy said, adding that Jennifer often moves her arms or legs to a desired position.

SMA is a relatively unknown disease. It is less familiar than muscular dystrophy or cystic fibrosis but affects about one in every 10,000 births.

Only eight cases of SMA have been reported in Missouri. More cases have been reported in Illinois.

The disease has three distinct phases, but all affect muscle mobility. Jennifer was diagnosed with SMA Type II.

"It's such an individualized disease," Christy Warner said.

Young children are primarily affected by the disease. It is a hereditary disorder linked to a recessive gene.

Until Jennifer's diagnosis, Wayne and Christy Warner didn't know they were carriers of the gene. Their son, Caleb, 4, isn't afflicted. But now the Warners have a 1 in 4 chance of having another child affected by SMA.

"It's a roll of the die," Christy said. "You can't test for carriers but they know it when they (doctors) see it."

Because August is the first National SMA Month, the Warners are holding a quilt raffle Aug. 19 at the Jackson Wal-Mart. All donations will be forwarded to the national Families of SMA chapter.

Audrey Lewis, executive director of Families of SMA, said the designation of a national month will help increase awareness and expand outreach and research efforts.

Families of SMA is a nonprofit organization that supports research and offers education and assistance to the public.

The organization operates chapters in Minnesota, Massachusetts, Washington and the Chesapeake Bay Area. Christy Warner hopes to begin a chapter in Missouri this year.

Donations to Families of SMA can also be made to the following address: 1025 Odus; Jackson, Mo. 63755.

Facts about spinal muscular atrophy:

-- SMA is closely related to muscular dystrophy. The disease has three different phases. Each phase affects the nerves that control voluntary movements.

-- The most evident sign of the disease is muscle weakness. Persons afflicted will often not be able to crawl, stand, or walk without assistance.

-- One in 40 people carry the recessive gene.

-- SMA is the No. 1 genetic killer of children under 2 years old.

-- In the known cases of SMA, 96 percent of those afflicted are missing the same gene. Researchers finally isolated the gene in 1990.

-- There is no known cure for SMA because little is known about the disease. Treatment includes physical and occupational therapies.