Maria Isabel Buseo has been receiving treatment for her rare disease, MPS IV, for 16 years, but she made headlines when the program that allowed her to stay in the U.S. for medical treatment was ended and Isabel was suddenly facing deportation.

When Alyse Sukalski, who has worked with Isabel for years at Cambridge BioMarketing, heard the news, her first thought was, “You’ve got to be kidding me.”

Sukalski has worked with Isabel both when she was involved in clinical trials as a child through BioMarin and later as a patient advocate for her condition.

Isabel came to the U.S. from Guatemala as a child to participate in a clinical trial for her condition. MPS IV is a rare genetic condition where patients are missing an enzyme that breaks down certain sugar molecules in the body called mucopolysaccharides. It leads to skeletal problems like short stature, limited joint mobility and underdeveloped spinal bones, along with breathing and heart problems. Patients with severe MPS IV are only expected to live into late childhood or adolescence.

The trial that Isabel, now 24, participated in was for BioMarin’s treatment Naglazyme, which was approved in 2005. Sukalski, who worked at BioMarin before joining Cambridge BioMarketing, was on the team that launched Naglazyme in 2005 and that was her first time meeting Isabel.

“She was a little girl when I met her, about eight or nine years old,” Sukalski said. “She and her family are wonderful people. Isabel is a very happy, optimistic, positive person; she is always all smiles and there’s a sense of gratefulness about her and her mom, Karla. We’re all so pleased at the success that she has had. She is a patient who embraces her life; she likes to have a good time and joke with people. She likes photos and was more than happy to being in our photos as a little girl.”

After the initial shock of Isabel’s impending deportation, Sukalski decided to jump into action. She began sharing Isabel’s Change.org petition internally at the agency, but she wanted to get Isabel’s story out there even more.

That’s when the agency launched its Hold on for Humanity initiative. When Isabel’s deferred action was revoked in August, the government gave her only 33 days to leave the country. But Isabel’s family, doctors and friends knew that if she returned to Guatemala she would lose access to this treatment and she would die.

The Hold on for Humanity initiative is a simple awareness program to keep Isabel and her fight to stay in the U.S. top of mind. The Cambridge BioMarketing team created a website where visitors can sign Isabel’s petition, donate to immigration group RAICES, find the latest news about Isabel and write to their representatives.

“It’s an interesting challenge in that we are focused on healthcare, focused on finding patients and connecting them with the appropriate therapies for their disease,” Sukalski said. “Here we’re stepping into something in immigration, and we were a little nervous around that, but it’s still about these patients looking to hang on and find these therapies. When the two crossover, it’s about how can we continue to help our patients get the therapies.” 

Other groups rallied behind Isabel, too, including doctors and nurses from USCF Benioff Children’s Hospital in Oakland, California, where Isabel gets her weekly treatments. Dozens of healthcare providers from the hospital protested with Isabel after the policy change.

Isabel wasn’t the only patient affected. Researchers in the U.S. often invite rare disease patients from other countries to participate in clinical trials, after which they stay in the country to receive treatment.

After appealing her case, the U.S. Citizenship & Immigration Services said in late August it would reopen deferred action cases, including Isabel’s. Since then, she has also testified before Congress about the policy decision. Although she no longer has to immediately leave the U.S., Isabel’s case is still up in the air.

“Depending on how these cases play out, the biggest impact could be in rare disease,” Sukalski said. “There are such a small number [of rare disease patients] that this could impact the potential to bring other patients to the U.S. in the future for clinical trials. We want to be able to find enough patients to create these therapies, and to do that we need to be able to safely bring in patients.”