Kylie

Kylie is an absolute angel. She earned the nickname “smiley Kylie” from her godfather because even when she’s crying, she still smiles! Two summers ago, during a trip to Disney World, she was dubbed “the happiest baby at Disney” by everyone we came across. She loves playing with her brother and sister, staying with her Grandma and Grandpa, and being “on the go.” If you tell her we’re going bye-bye, she’s the first person to have her shoes on and waiting at the door.
~Cathe, Kylie’s Mom

Pompe Disease

Pompe disease is a rare multi-system genetic disorder that is characterized by the absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to
breakdown the complex carbohydrate glycogen and converts it into simple sugar glucose. Glycogen is a thick, sticky substance, and failure to properly break it down results in massive
accumulation of lysosomal glycogen in cells, particularly in cardiac, smooth, and skeletal muscle cells. Pompe disease is a single disease continuum with varying rates of disease progression and different ages of onset. The infantile form is characterized by severe muscle weakness and abnormally diminished muscle tone without muscle wasting and usually manifests within the first few months of life.

Artist: Sara Breslin