Cal State East Bay Student Raises Awareness about Rare Disease Day

  • February 25, 2016

Every morning, Isabel Bueso wakes up with a smile on her face. To explain her sunny disposition, one only has to look at the sign above her bed: “Life is a happy adventure.”

When asked what sage philosopher first penned that phrase, Isabel laughs and answers, “Me!”

On Feb. 29, the 21-year-old sophomore served as a guest speaker at Rare Disease Day, hosted at Cal State East Bay’s Concord campus, where she attends classes.

For Bueso, the topic is her daily reality. Since early childhood, she has been living with a rare condition called Mucopolysaccharidosis Type VI (MPS VI), a family of diseases caused by enzyme deficiencies. Only a few thousand people in the world suffer from the genetic disease, which often can stunt growth and lead to numerous side effects, including blindness and added pressure in the skull or spinal column.

She is the founder and organizer of the campus event, which started last year due to her advocacy. 

In fall 2014, when she arrived at CSUEB, Bueso approached some classmates — many of whom were majoring in the medical field — and asked them to become involved. She made calls, sent emails and set up a table for donations.

Since the National Organization of Rare Disorders (NORD) and Rare Diseases Europe (EURODIS) started Rare Disease Day in 2008, thousands of such events have taken place around the world.

“This year, we want to go bigger,” Bueso said. “We’ll have a virtual walk-a-thon to raise more money. Our goal is to raise $1,000 in donations so we can establish a scholarship for someone with a rare disease. We also just want to educate people. When you don’t know much about someone with a special condition, you can make them invisible.” 

Isabel’s remarkable journey started in Guatemala, where she was born. As a baby, she was plagued by infections during her first year of life. Her parents knew something was wrong. They flew her to Miami, where she was examined by two physicians and took a battery of tests. It was there that she was diagnosed with MPS VI.

Doctors suggested she be taken to St. Jude Children’s Hospital in Memphis, Tenn., where a match for a bone marrow transplant would be sought. For the next four years, Isabel flew from Guatemala City to Memphis bi-annually for tests. However, a bone marrow donor was not found.  

Then, new hope surfaced.

“My sister found a story in Reader’s Digest about a young boy who also had MPS VI and was part of new experimental enzyme replacement trials in California,” said Karla Bueso, Isabel’s mother.  “I wrote the people at Children’s Hospital Oakland and they agreed to examine her.”

Then the unthinkable happened. 

“At the time, Isabel was dancing and racing around with so much energy,” recalled Bueso. “The hospital administrators told me she was too healthy for the program! They said they could not measure enough improvement with the trials.”

Undeterred, Karla Bueso did not give up. She emailed the hospital every month, pleading that her daughter be accepted into the program. Meanwhile, Isabel’s condition had worsened. She was getting tired more often, her hands were clasping shut, and she had recurring headaches.

Finally, the hospital agreed to admit her. It was the last clinical trial approved by the FDA. 

The results were dramatic for Isabel — the enzyme replacement sessions eliminated much of the pain and respiratory infections associated with the disease. 

“They told us we had a choice to make,” said her mother. “We could return to Guatemala, where there was no guarantees we would have access to this medicine, or we could remain in the Bay Area permanently, where Isabel would continue to receive treatment.”

The family said they were given only seven days to decide. 

Karla, an executive at a public relations agency in Guatemala, and her husband Alberto, a computer engineer, boldly decided to relocate Isabel and her older sister Ana (now 23) to the Bay Area and start a new life — a life that would measurably improve Isabel’s rare condition.

Settling in Concord, Bueso continued her treatments at Children’s Hospital Oakland and attended public school. Then in 2008, she started suffering from neck compression caused by the curvature of her back and underwent surgery. The procedure caused paralysis from the chest down, confining her to a wheelchair.

“I was down for awhile but then I realized that people needed to know that I’m still me,” Bueso said. I haven’t changed. I’m like everyone else. I have pretty good moments in my life. It’s really simple: there’s no time to be depressed because there is so much to do in this life.”

Bueso still undergoes enzyme treatments every Friday at Children’s Hospital Oakland. Proud of having opened the door for other MPS-inflicted patients like her, each year she supports the hospital’s annual fundraising radio-a-thon by appearing as an interview guest. 

She also shares her passion for dancing with young children in the various wards at Children’s Hospital. She is involved with the non-profit organization, Dancin’ Power, where she receives lessons, hoping to become a dance teacher one day. 

“I’m not allowed to be an official teacher because I’m still a patient,” she said. “But they (hospital administrators) have given me the unofficial title of ‘Dance Ambassador.’”

Much of what she does is made possible by her loving mother, who has devoted her life to assisting her daughter in chasing her dreams.

“She is a very powerful woman,” Bueso said. “She tells me that anything is possible. When I didn’t feel like going to school, she said I had to go. Now she drives me in our van to Cal State. My mom is amazing. She helps me so much.”

Beyond its support for rare disease awareness, Bueso says Cal State East Bay has been the perfect fit for her, both academically and socially.

“Right at the beginning, I knew this was the school for me. Everyone here was so mature and accepting. Nobody cares what you look like or who you are.”

She particularly praised the Student Services department, which has provided special timesaving computer software (Kurzweil Education) that digitally transposes her books to address some of her physical challenges. As a result, Bueso thrives in the classroom. She was recently invited to join the school’s Honor Program, which requires a 3.6 GPA, and she is also considering Cal State’s study abroad program. However, she has yet to declare a major.

“Right now, I’m considering sociology or something community related," she said. "I want to be an advocate for disabled people. My ultimate goal is to someday work for the ‘Make A Wish’ Foundation.”

Karla Bueso knows anything is possible when it comes to her daughter.

“I’m amazed how resilient she is. Even though she’s been through a lot, she still wakes up in the morning with that smile. She’s like a little cheerleader to a lot of people.”

Learn more about Isabel in this video. 

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