Macie's Rare Disease Day Celebration!
Macie was born with a very rare disease called Pompe disease. A genetic disorder in which a complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alpha-glucosidase (GAA), which breaks down complex sugars in the body and subsequently causes a buildup of glycogen in organs, tissues, and muscle causing them to break down. The disease is rare. In the United States, only 1 person in 40,000 is affected by Pompe disease. Since Macie was born, she has been going for testing every six months to check for muscle damage, as well as to see how much glycogen her body is releasing. At this point, her levels are great and her doctor is very pleased. Caitlin and Jeff thank you for all of your thoughts, prayers, and support! Thank you for supporting Dr. Kishnani’s Pompe research fund at Duke Children's Hospital!
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