Isabel Bueso - Maroteaux-Lamy Syndrome
I had an interview with Isabel Bueso over email the other day and I just wanted to state how much I admire her. I followed her story last year and she is truly one of the bravest women I have interviewed. She is truly a fighter and is a role model for all those with rare diseases and rare disease advocates.
Isabel Bueso was about to be deported, but that would have put her health at risk. She fought to stay here and she was an advocate for all rare disease patients getting clinical trials who were at the risk of being deported. Her fight against deportation had gained the attention of many, myself included. She was strong to do this and her passion for being a voice for rare disease advocates did not waiver. “The reason I advocate for patients with rare diseases is because everyone has a voice and things will only change by speaking up. I’ll use my own experiences to advocate, encourage change and expose the realities of living with a rare disease to the public,” Isabel Bueso says.
If you’d like to read more about what she has done, please check out the links provided below:
I was so excited to interview her and it was something that I’ve been wanting to do ever since I heard about who she was and what she was doing. This is her story.
Isabel Bueso is a 24 year old who graduated from California State East Bay and was only a mere 2 years old when she was diagnosed with Maroteaux-Lamy Syndrome or MPSVI. “My diagnostic journey began when I was three weeks old, and my mother took me to the ER because I was having a hard time breathing. I had problems with my health during my first year. After appointments with an orthopedist, geneticist, and endocrinologist, I was diagnosed with Maroteaux-Lamy Syndrome, also known as MPSVI, at the age of 1 1/2-years-old. MPSVI is a rare and progressive condition that affects major organs and systems in my body. MPSVI is a form of mucopolysaccharidosis. As you know, enzymes are proteins that perform specific jobs in our bodies. My body is missing an enzyme called arylsulfatase B, or ASB. ASB breaks down and gets rid of waste in the cells. This waste is called glycosaminoglycans, or GaGs. GaGs in my body can build up in my cells, causing organs or entire body systems to be harmed. MPSVI leads to a number of physical disabilities, including dwarfism, clouded vision, possible blindness, breathing difficulties, hearing impairment, coarsening of face, spinal cord compression, enlarged tongue, organ enlargement, painful bone, and joint abnormalities. I have all of them! To manage my condition, I have to see a cardiologist, pulmonologist, orthopedist, neurologist, ophthalmologist, neurosurgeon, physical therapist, etc. To aid in treating my condition, I receive an enzyme replacement therapy once a week. There are only 1,100 known cases of MPSVI in the world; of these, 200 live in the United States. Despite all challenges with MPSVI, I choose to live my life to the fullest,” she tells me.
Isabel graduated Summa Cum Laude from California State University East Bay and was Director of the Associated Students for the Concord Campus. She established a scholarship to support students with physical and mental disabilities at CSUEB.
Isabel tells me that she enjoys traveling, dancing, watching movies and TV series, shopping, talking on the phone and texting with friends. “San Diego is at the top of my list because I love the beach. I have a passion for dancing. My favorite TV show is Friends. My favorite boyband is CNCO,” she says.
Growing up, Isabel was living with lots of confusion. She had no idea why she would constantly have to go to the doctor, have surgeries, and hospitalization. Her parents tried their best to explain to her that there was something essential missing from her body, but she didn’t get it until she had grown to be a lot older. As she got older, she gained a better understanding of her disease, but her questions probably didn’t stop there. After that, she gained the heart to raise awareness of rare diseases. Isabel has set up so many events for rare disease day and has even created a scholarship to support students with rare diseases.
When asked about Isabel’s daily life, she answers with, “I am always trying to find some balance between work, doing projects, going to my weekly treatment, doctors’ appointments, etc. It’s hard to have long term plans because I never know if my body will ask me to stop and take a break. I always try to accomplish short goals. I enjoy life day by day.”
Every patient I have interviewed so far has told me that having a rare disease is a huge financial burden, and Isabel said the same thing. Growing up, their family struggled to pay for things that Isabel's insurance didn't cover. Isabel’s mother even gave up her dream job (a lawyer) in order to take care of Isabel and tend to her needs. “I’m currently working on applying for a job, but surgery is being scheduled soon. It’s hard for people to understand what I am going through. I am a wheelchair user and have a genetic condition. Sometimes, people look at my disabilities but not at my abilities,” she says.
“At a younger age, it was easy to be around friends. I used to walk, so it was not a problem to follow them and participate in their activities. I joined the Girls Scouts, Drama Club, etc. I was very active. Sadly, an unexpected bad outcome from surgery left me paralyzed. Some of my friends left me. I guess that they didn’t know how to support me. But I have a small group of friends who stayed with me. We still see each other. When I was in college, I met other friends, and it was easier to be around them because they were more mature. It was hard in middle school and high school, but college was great!” she tells me. It was great to hear that she had close friends she could depend on. Usually when I interview someone with a rare disease, they get bullied or left out of activities just because they’re “different.”
Isabel Bueso’s advice to the world is, “‘Don’t be afraid to use your voice, because your voice matters’. Also, it is important to surround yourself with the people who care about you. It is important to learn about your condition and what things help you to achieve the things that you want in life. Your disease doesn’t define you. Everyone is unique in their own way.”
Isabel has done many things in order to raise awareness of her disorder. She is a woman with lots of initiative and will stop at nothing to help those in need with rare diseases. She has impacted the United States of America in many ways and continues to do so. “In 2013, I supported a bill introduced by Assemblymember Marc Levine to establish February 28t h as Rare Disease Day in California. I also testified in support of a bill to create the Rare Disease Advisory Council in California. For the last six years, I have raised awareness about MPSVI and other rare diseases at my High School, University, hospital and the Capitol in Sacramento. I now work as an advocate for people with rare diseases and have visited the California State Capitol in Sacramento and the U.S. Capitol in Washington DC for several years in that capacity.”
Isabel tells the parents “that every child is unique. Never compare your child with another one. Always remember that the expectations they might have are their expectations, not their child’s expectations. They need to learn about their children’s condition because they will become the best advocates for them.”