Girl celebrates 2nd birthday a year after Hurler syndrome treatment

Girl celebrates 2nd birthday a year after Hurler syndrome treatment

EUGENE, Ore. -- Everything was picture perfect for Maura Mongan's 2nd birthday. Family and friends crowded around to watch the little girl blow out her candles on Sunday. 

For Maura’s mother, Amber, this birthday marked almost a year since her daughter experienced another milestone.

"At 10 months old, we found out that she had Hurler syndrome, or MPS I,” said Mongan.

Hurler syndrome, or mucopolysaccharidosis I, affects 1 in 25,000 babies born in the US, according to the National Institute of Neurological Disorders and Stroke.

Hurler Syndrome is when an enzyme is missing and the body can't get rid of a glue-like substance that the cells are supposed to be recycling. There is no known cure for Hurler Syndrome. 

"There isn't a cure, but there is a treatment. We learned that she had to receive the bone marrow transplant ... treatment by age two or there wouldn't be an effective treatment," Amber said.

She found that Maura had Hurler syndrome after having her daughter’s spine, which curves outward, examined by a doctor.

“A lot of people have a hard time identifying it in children that are young, like Maura, because there aren't a lot of symptoms necessarily,” Amber Mongan said. “They referred us to a specialist, the specialist thought she had some funny looking facial features, so they explored (Hurler syndrome) as an option."

Maura then had enzyme therapy treatment, however they also learned about the bone marrow transplant as a treatment option.

“The bone marrow transplant has a 20 percent fatality rate, so it was definitely a scary thing to think about in the first place,” Mongan said.

“This is what we have to do to get her through this. But we didn’t want this to feel like a bad experience for her, especially since she’s going to have to see doctors the rest of her life.”

Amber said that the now two-year-old Maura proved to be a very strong girl. In October of 2012, Maura was admitted to UCSF in San Francisco for the treatment.

While the treatment was a success, Maura still makes regular visits to California for enzyme therapy and to see specialists.

“(We’re) hoping that will go to an annual basis soon. But, we still have to travel to San Francisco for checkups,” said Mongan. “Seeing her today, you’d have no idea she had an illness… she’s so strong!”