"Little Joe” was born May 3, 1996. At first he appeared to be a strong, healthy newborn; increasingly alert, inquisitive, and full of smiles. Then, at five weeks of age, doctors discovered a severe abnormality in the size of his heart and placed him in Neonatal Intensive Care. Nearly two weeks passed as experts searched for the cause of his condition. Three days before his death a team of specialists diagnosed Pompe, a rare metabolic disease.
Pompe, also known as Glycogen Storage Disease type II or Acid Maltase Deficiency, inhibits the body’s ability to process glycogen. As unprocessed glycogen accumulates in the cells of muscle tissue, it causes the cells to expand and rupture. “Little Joe’s” heart was essentially swollen and quickly being destroyed. After seven short weeks of life, he died of heart failure.
If you would like more information on Pompe disease please visit the Acid Maltase Disease Association website at : www.amda-pompe.org
Pompe, also known as Glycogen Storage Disease type II or Acid Maltase Deficiency, inhibits the body’s ability to process glycogen. As unprocessed glycogen accumulates in the cells of muscle tissue, it causes the cells to expand and rupture. “Little Joe’s” heart was essentially swollen and quickly being destroyed. After seven short weeks of life, he died of heart failure.
If you would like more information on Pompe disease please visit the Acid Maltase Disease Association website at : www.amda-pompe.org