The nurses said that James had a good night’s sleep and didn’t have too many issues. He was having some difficulty keeping his sats up and his food down, so they decided to stop feeding him Stacy’s breastmilk and switched over to IV fluids.
The geneticist took some more blood and sent it off for lysosomal enzyme testing to see if James has a lysosomal storage disease. Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. Although the signs and symptoms vary from disease to disease in this group, symptoms occur in each case because of an enzyme deficiency that inhibits the ability of the lysosomes present in each of the body’s cells to perform their normal function. The lysosomes function as the primary digestive units within cells. Their function is to break down complex components into simpler ones. Each cell has hundreds of lysosomes that degrade complex cellular components such as proteins (substrates) into simpler components. When this process does not take place, the substrate begins to accumulate in the cells. That is why these diseases are called “storage diseases”. The symptoms of lysosomal storage disorders are generally progressive over a period of time.
James finished the round of antibiotics that they started on September 3rd to fight the pneumonia they saw in a chest x-ray.
