Drug trial targets fatal nerve illness

September 04, 2006|By Bonnie Miller Rubin | Bonnie Miller Rubin,CHICAGO TRIBUNE

PONTIAC, Ill. -- When Elizabeth Lee Hallam was born Sept. 29, 2003, she was a textbook example of the perfect baby. But by 8 months of age, she was battling a fatal genetic disease her family had never heard of.

Elizabeth was diagnosed with the most acute form of spinal muscular atrophy, a motor neuron disorder similar to Lou Gehrig's disease that afflicts one in 6,000 babies. With no cure or treatment, the doctor predicted Elizabeth - like 95 percent of SMA babies - would not live more than two years.

"I screamed when we got the news," said her grandmother, Jeanna Huette, 48. "I could not understand how such a beautiful child could just die. I cried for a few more days ... and then I knew I had to save her."

As Elizabeth approaches her third birthday, she cannot sit, stand, crawl or walk and relies on machines to swallow, get nourishment and even cough. But she is alive and improving.

Her family enrolled Elizabeth in a trial designed to test the safety and effectiveness of the drug hydroxyurea against SMA. It is one of a few clinical studies on the disease approved by the Food and Drug Administration and is run by Dr. Ching Wang, a scientist affiliated with Stanford University who has made conquering the disease his life's work.

The research is in the initial stages, but if the treatment succeeds, Wang says, it could give new hope not just to children afflicted with SMA but those with other genetic illnesses and other motor neuron diseases.

Elizabeth, who has grown into an engaging child, is one of Wang's star patients.

"This little girl is defying every rule, every possible odd," said Wang, director of the Neuromuscular Disorders Clinic at Packard Children's Hospital in Palo Alto, Calif. "She's going to turn 3, and she shouldn't even be here."

SMA is caused by a defect in a gene that codes for a protein called "survival motor neuron." Its precise role is not understood, but the absence of survival motor neuron protein results in degeneration of the lower motor neurons, preventing muscles from receiving commands from the brain.

Over time, the nerve cells in the spinal cord waste away, causing unused muscles to shrink and severely compromising other vital functions, including breathing.

Wang became interested in the illness in the early 1990s as a pediatric neurology fellow at Columbia University.

At Columbia, he joined other scientists in trying to tease out the molecular cause of SMA. French researchers identified the culprit gene in 1995. After arriving at Stanford in 2002, Wang zeroed in on the potential of hydroxyurea.

Elizabeth was 1 month old when her grandmother noticed that she couldn't hold up her head and had floppy limbs. A doctor advised the baby's mother, Christen Huette, then 20, that some babies are just lazy and that she should be patient.

By 5 months, however, no one was dismissing the suspicions.

Now, every month, they haul six machines that help keep Elizabeth alive to Chicago's O'Hare International Airport to fly to California so Elizabeth can be treated by Wang.

In August - two months after the trial started -the hassles paid off.

Elizabeth moved her head. Next came her limbs and stronger muscle tone. Now, Elizabeth is chattering away, repeating her ABCs and counting to 10.

The odds are still long, but the trips to California have given everyone something they didn't have before: hope.

Bonnie Miller Rubin writes for the Chicago Tribune.

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