Guatemalan girl gets life saver, but family running out of time

Nov. 15, 2006

Pixieish, long haired and gregarious, Isabel Bueso, 11, wants to be a dancer and has a ballerina's extension to prove it.

Since she came to the United States from her native Guatemala, Isabel has tried horseback riding and ice skating. She names five best friends from her fifth-grade class at Lafayette Elementary School.

Point a camera her way and she mugs coyly.

She is also one of 1,100 people worldwide suffering from Maroteaux-Lamy Syndrome, an enzymatic disorder that ravages all the major systems of the body.

That she can do things like ride her bike in the park is a testament to a first-of-its-kind enzyme replacement therapy that has changed her life -- but has put her and her family in a harrowing conundrum.

BioMarin Pharmaceutical brought Isabel, her parents and sister Ana, now 14, to this country on tourist visas to participate in a study of the experimental treatment.

Her parents, skilled professionals, must now choose whether to live on charity in the U.S. or return to Guatemala and do without the medicine that is saving their daughter's life.

"We found out without the right visa, we can't work," said Karla Bueso. "Our hands are tied. We couldn't bring the medicine back to Guatemala, but we couldn't stay here because we couldn't work."

The breakthrough enzyme therapy has not yet been approved for use in Guatemala.

"She has improved significantly," said researcher Paul Harmatz, associate director of the Pediatric Clinic Research Center at Children's. "We are very optimistic."

Isabel suffers from mucopolysaccharidoses a genetic disorder. Sufferers lack the enzymes that break down and recycle waste in cells. Instead, waste builds up in cells, disrupting their function. It progressively damages the heart, bones, lungs and central nervous system.

Without the therapy, waste would quickly reaccumulate, accelerating the damage, Harmatz said.

"We virtually never see a patient with her level of disease beyond the age of 20, 21," he said.

Karla Bueso, a marketing specialist who once routinely arranged high-level corporate news conferences, found a modest apartment for her family not far from Children's. The Buesos spent much of their savings on furniture and bedding.

Karla and her husband, Alberto, a computer engineer, volunteer their time at Lafayette-Orinda Presbyterian Church, where they are members. Alberto Bueso set up a computer network for the Monument Crisis Center in Concord.

On Wednesdays, Karla Bueso helps Isabel keep up with her schoolwork during her six-hour infusions at the hospital.

"My life changed so much," she said with a smile, selecting a file from a box of folders on the illness and its treatment. "I've become an expert on bargains. I got this printer at a garage sale for $2."

A Spanish-speaking aide who helped Isabel at school introduced the family to Lorraine Lyon, a church elder. The church quickly became a second family to the homesick Buesos and their ailing daughter.

"Isabel has become a grown person within herself," Lyon said. "She is a much stronger person than most people her age."

While they anxiously await word on their visas, the church has been paying their rent and buying their groceries so they can put all their resources into Isabel's medical treatment.

"This is a social justice issue," Lyon said "I've written to Ellen Tsauscher, Barbara Boxer, others. I've gotten form letters back saying 'We've passed your information on.'"

The H-1B visa allows U.S. employers to hire overseas professionals for up to six years. A lawyer is working for free to help them.

Healthy at birth, Isabel suffered respiratory infections during her first year of life.

But sobering evidence of a much larger problem appeared with a full-body X-ray: Virtually every bone in her body was damaged.

One day, Karla Bueso read an intriguing article on the seven types of MPS. She e-mailed the doctor, who invited the family to the United States to take part in a study of six patients. Her group was given a placebo, but after the six-month study concluded, she got the real thing -- and will as long as her family remains here.

Isabel said her worst problem is boredom during the long hours she spends in the hospital.

"It's fun when my sister comes," she said. "We can play."

When she first arrived in this country, she could barely walk.

"She had so much pain in her legs," Karla Bueso mused. "Now she can ride her bike in the park."