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Helping your baby with metabolic disorders

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Powerful Patient

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Krystye, a young mother in Maine, gave birth to a beautiful, long-for baby daughter.  Within days it was clear that something was wrong.  Krystye shares her experience with us -- how she worked with her doctors, advocated for her daughter, and found help for her daughter's rare condition.

Our bodies are an intricate complex of delicate processes that take food in, break it down into tiny components, and pass those components into our cells.  Within the cells they are used to build the cell structure, create energy, store up energy for future use, and then dispose of the residues left from this processing.

There are more than 60 enzymes involved in this processing.  When one or more of these enzymes is altered or missing, problems occur.  This group of diseases is called lysosomal storage diseases.

Pompe disease is one of these disorders, causing accumulation of too much glycogen and causing muscle weakness, failure to thrive, and heart issues.

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