'She shouldn't even be here'

Doctors said she wouldn't live 2 years, but a girl with a fatal genetic disease has been making progress in a clinical trial

By Bonnie Miller Rubin
Chicago Tribune staff reporter
Published August 29, 2006

PONTIAC, Ill. - When Elizabeth Lee Hallam was born on 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 all 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 only 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 with an ever-present smile, 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."

Dr. Mary Schroth, a pediatric pulmonologist at the University of Wisconsin Children's Hospital who treats SMA patients, including Elizabeth, from all over the Midwest, said the research is promising.

"These are just tremendous gains," said Schroth, who is not involved in the trial.

Clinicians won't know everything until the data are published, Schroth added. "But it's a huge breakthrough for those afflicted with a horrible disease."

"The state of the field is much more encouraging than it has ever been in the past for SMA," said Dr. Kenneth Fischbeck, chief of the neurogenetic branch at the National Institute of Neurological Disorders and Stroke.

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

"A baby with SMA died in front of my eyes, and I could not do anything to help her," he said. "It stuck with me ... and I vowed to study this disease until there is a cure."

At Columbia, he joined other scientists in trying to tease out the molecular cause of SMA. French researchers eventually identified the culprit gene in 1995. After arriving at Stanford in 2002, Wang zeroed in on the potential of hydroxyurea, a drug originally used as a chemotherapy agent that helps boost the body's protein production.

"We found out that in a much lower dosage, this could have other benefits ... because it can modify the way the human gene works," Wang said. For this reason, he added, the approach may be applicable to other genetic diseases as well.

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

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

SMA is not one of the 34 disorders routinely included in the state's screening program for newborns, though people with a familial link can ask for prenatal testing, according to the Illinois Department of Public Health. No one in Elizabeth's family had ever been diagnosed with SMA, so the family was caught off guard when a pediatric specialist delivered the grim news, based on a blood test.

Two days after the family was thrust into this strange, new world, Jeanna Huette took action. After stumbling across a blurb on the Internet about the Stanford University study, she confronted her daughter.

"I followed her into the bathroom and said, `Either we're going to California or I'm taking her myself,'" said Huette, jaw set, wagging her finger. "My daughter was grieving for this baby, and she wasn't even gone yet."

In June 2004, the three of them - none of whom had ever been on a plane - made their first trip to Packard Children's Hospital.

Now, every month, they haul six machines that help keep Elizabeth alive - including a cough-assist device the size of a vacuum cleaner - on a 120-mile trip to Chicago's O'Hare International Airport to fly to California so Elizabeth can be treated by Wang.

The Huettes also pack a special stroller, other adaptive equipment and containers for her special amino-acid diet, which includes breast milk, green beans, bananas and several supplements all delivered via feeding tube directly into Elizabeth's stomach every two hours.

The 14 patients enrolled in the hydroxyurea trial come from all over the U.S., Wang said.

A few have even relocated to Palo Alto - a move the Huettes briefly considered, since Elizabeth won't complete the trial until May 2007. "But when I saw the price of real estate, I just went like this," Christen Huette said, dropping her jaw.

As it is, finances are tight. The airfare for Elizabeth and her mother is picked up by Mercy Medical Airlift, a charitable program, but Jeanna Huette must pay her own travel expenses, about $750 a month. That's over and above the regular medical costs, which are daunting enough for Christen Huette, who earns $6.75 an hour at the local Kmart and lives with her parents.

The baby's grandfather, Herb, is a mechanic, and Jeanna Huette provides full-time supervision for Elizabeth. The baby's father does not live with the family.

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

Instead of being a rag doll, Elizabeth moved her head. Next came her limbs and stronger muscle tone. Now, Elizabeth is chattering away, repeating her ABCs, counting to 10 and even managing a lip-curling, hip-swaying Elvis imitation.

The odds are still long, but the trips to California have given everyone something they didn't have before: hope. Family members slip easily into talking about Christmas, preschool and other future milestones.

"Whatever time we have has been a gift," said Christen Huette. "She's not giving up, so neither can we."