A Rare Genetic Disease Should Have Killed Her by 10 — How a Medical Breakthrough Saved Her Instead

For the first three weeks of her life, Isabel Bueso seemed blessedly free of disease.

And then, as mom Karla Bueso remembers now, “She began to suffer.”

Isabel has mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome or MPS-6, a rare genetic disease which inhibits the body’s ability to process sugar. Serious symptoms can result, such as dwarfism, enlarged organs, impaired breathing and painful bone abnormalities.

But in those early months after Isabel was born in Guatemala City, Guatemala, her parents didn’t know what was wrong, exactly — only that something was. Isabel’s pain proved that. Metabolic disorders such as MPS-6 are difficult to diagnose, however, and MPS-6 doesn’t often make itself known at birth. Only later in childhood do problems usually appear.

Isabel’s mom says X-rays showed the tell-tale bone abnormalities in her body. Next, the family turned to a children’s hospital in Miami, where she was seen by an endocrinologist, a geneticist, an orthopedist. The doctors confirmed: She was born with MPS-6.

The diagnosis meant little, long-term. Isabel’s doctors told the family her only treatment option might be an experimental bone marrow transplant, if a donor was available. St. Jude Children’s Research Hospital, in Tennessee, reached out offering to help facilitate the procedure, which would be the first of its kind for an MPS-6 patient.

“That began a series of once-a-year trips from Guatemala to Memphis, in hopes to find a bone marrow donor for Isabel,” Karla tells PEOPLE.

“We waited five years, but the call never came,” she says.

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Doctors had said Isabel wouldn’t live past 7, maybe 10. All the while, her disease continued to progress. At age 4, she stopped growing taller. (Today she is 3-foot-4-inches and 57 lbs.)

But that was not the end. At home in Guatemala, Karla spotted a Reader’s Digest article about a boy named Ryan Dant, who was born with another form of MPS, and whose family had been key in supporting a nascent form of treatment for the disease: enzyme replacement therapy.

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Karla wanted to learn more. Eventually she connected with a medical team in California who invited the family there, where they arrived in 2003. The doctors wanted Isabel to participate in a clinical trial for what would become Naglazyme, an FDA-approved enzyme replacement therapy — the first treatment for MPS-6.

Once the Buesos came to California, they never left. Isabel, now 24, continues to receive weekly infusions at an Oakland hospital. In recent years, her parents saved enough for a small house. (Her dad works as a sales manager; Karla helps with her care.) Last year, she graduated summa cum laude from college and talks about pursuing a master’s degree.

Her illness has taken its toll, however: She’s undergone “a lot, a lot” of surgeries over the years, one of which paralyzed her from the waist down, and she has a hole in her throat from a tracheotomy to help her breathe.

Still, expected to die young, Isabel is into her third decade — and counting. She’s not making her bucket list any shorter.

While at California State University, East Bay, she became director of the associated students, kind of like a class president, and she had to give a short speech at graduation.

She has twice spoken to lawmakers, and she did a summer internship with California Assemblyman Rob Bonta. As part of that program, she worked on a project for a mock proposal. Hers focused on expanding the state’s Genetic Handicap Persons Program to include MPS, extending health care services at the same time that many MPS patients are entering an adulthood that, decades ago, doctors said they would never see.

In her off time, Isabel enjoys dance (which she teaches to disabled patients at the hospital), being at the beach and cooking. She loves the boy band CNCO and traveling to San Diego.

“I’ve never met somebody who embodies pure joy the way that she does,” says Justin Baldoni, whose four-year friendship with Isabel began after he featured her on his CW show following individuals with terminal illnesses, My Last Days.

“Despite everything she’s been through,” Baldoni says, “Isabel always has a smile on her face.”

Baldoni was compelled to speak out in a statement about Isabel because, for the last three weeks, she and her family lived in a legal limbo due to her immigration status, with what her doctor said were life-or-death consequences.

In August, the federal government told the Buesos that the immigration exception that had allowed them to remain in the U.S. for a decade was being ended. This would have meant sending Isabel away from the weekly treatments that are keeping her alive. (Naglazyme is not available in Guatemala.)

Following widespread outcry, on Monday authorities reversed their position and re-opened hers and the other cases.

Isabel is promising to continue to push for a way to prevent future uncertainty about her residency. Next week she will testify before Congress, as lawmakers seek to learn more about the abrupt policy change that, according to the government letter first sent to Isabel, ordered her family out of the U.S. in a month or risk deportation.

And while she is no longer under imminent threat, according to immigration authorities, that could change. She must seek an extension of the exception protecting her every two years. The government could always change its mind.

“We need to work together to find a more permanent solution that gives families like mine the guarantee that our lives won’t continue to be threatened,” she tells PEOPLE.

There is so much more to live for.

Says her mom: “She still have a lot of dreams for herself.”

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