According to a story from the San Francisco Chronicle, Isabel Bueso’s parents were told when she was born that she would not live more than seven years. However, she continued to thrive. She is now 22 years old and graduated from college with honors on June 9th. Isabel was born with a rare genetic condition called Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis VI (MPS VI).
Maroteaux-Lamy syndrome is a type of mucopolysaccharidosis caused by a deficiency of the enzyme arylsulfatase B. People with Maroteaux-Lamy syndrome have normal intellectual development, but share physical symptoms similar to Hurler syndrome, another type of mucopolysaccharidosis. The syndrome causes a form of dwarfism to develop; the first sign is a major delay in learning how to walk. Symptoms include deafness, clouded corneas, pain from compressed nerves, and thickening of the dura, a membrane that surrounds the brain and spine. Most patients also have heart disease, hernias, a protruding abdomen, forward curved spine, a shortened torso, limited joint movement, and a crouched posture. The only treatment for the Maroteaux-Lamy syndrome is an enzyme replacement called galsulfase. At $365,000 a year, it is one of the world’s most expensive drugs. To learn more about Maroteaux-Lamy syndrome, click here.
Although she has managed to survive long past the original expiration date given by her doctors when she was born, that doesn’t mean that things haven’t been tough for Isabel. She is paralyzed, went through multiple surgeries, and was temporarily blind. Isabel was excited and grateful about the opportunity to get her degree, and knows that it is a major moment for her and her family.
Unlike some rare disease patients, Isabel does not hesitate to talk about her experiences of Maroteaux-Lamy syndrome. She aims to encourage and inspire others as well as spread awareness about not just her syndrome, but rare diseases in general. A big moment for Isabel was when her family moved from Guatemala to the Bay Area, where she was able to participate in a clinical trial for galsulfase.
The drug was able to help her, but she had already been sick for years, and it could not reverse the harm that she had already sustained; a surgical attempt to reconstruct her nerves resulted in her current paralysis from the chest down when she was 13.
Now, Isabel is ready to keep living life; she plans to work for a few years before pursuing a Master’s degree.