If they stay, parents can’t work; if they go, daughter’s treatment ends

by Rebecca Rosen Lum
McClatchy-Tribune Business News+

Nov. 4–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 such as 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, parents Karla and Alberto and sister Ana, 4, 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. “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 Hospital & Research Center Oakland. “We are very optimistic.”

Isabel suffers from mucopolysaccharidoses, or MPS, 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, 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 Alberto, a computer engineer, volunteer their time at Lafayette-Orinda Presbyterian Church, where they are members. Alberto set up a computer network for the Monument Crisis Center in Concord.

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

“My life changed so much,” Karla 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.”

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.

While the Buesos 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 (U.S. Rep.) Ellen Tauscher, (U.S. Sen.) Barbara Boxer, others. I’ve gotten form letters back saying, ‘We’ve passed your information on.'”

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

Seeing that her hip bones had pulled from the sockets, one Guatemalan doctor suggested surgery, followed by a brace for six months. But sobering evidence of a much larger problem appeared with a full-body X-ray: virtually every bone in her body was damaged.

The family consulted a Miami geneticist, who confirmed a diagnosis of MPS. The only treatment available was a bone marrow transplant, and the family could not find a donor match.

One day, Karla read an intriguing article on the seven types of MPS. She e-mailed the doctor, who invited the family to the United State to take part in a study of six patients. At first rejected since she had not deteriorated enough, Isabel was later accepted when the team revised its criteria.

Doctors inserted a shunt in her brain to drain fluid and performed a tracheotomy to aid her breathing. Her group was given a placebo, but after the six-month study concluded, she got the real thing — and will continue to receive it as long as the 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,” her mother mused. “Now she can ride her bike in the park.”

 

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