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Monday, May 15, 2017 10:00 am EDT

The Great Unknown

The Path to an MPS I Diagnosis

Soon after giving birth to her son, Felipe’s mother knew something was wrong with him. Diagnosed with bronchiolitis when he was fifteen days old, Felipe went on to be diagnosed with recurring pneumonia and, over the course of four years, he was hospitalized ten times.



At the age of four, Felipe’s pneumonia progressed and he began experiencing joint pain, an issue that remains to this day. Whether he’s holding his pencil in school or brushing his teeth, Felipe feels pain when trying to complete these ordinary tasks.

Years after first experiencing pain, Felipe’s family finally met with a specialist who correctly diagnosed him with MPS I, an inherited genetic disorder caused by a deficiency of an enzyme called alpha-L-iduronidase. MPS I has a wide range of symptoms, and people may experience different degrees of disease progression. Because the signs and symptoms vary, it affects each individual differently. This also means that children like Felipe struggle to get a diagnosis.

This is Felipe’s rare disease story.

On May 15, International MPS Awareness Day, we show our support of the MPS community and are committed to continuing to tell their stories with the goal of giving them a greater voice.

 

Last Updated: 5/15/2017
SAUS.MPSI.17.04.1742
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