If you’ve read yesterday’s post, you know that they started using his new G-tube and were slowing increasing his feeds (first with Pedialyte and then with breastmilk) until they get him up to full feeds. So far everything is going smoothly with the G-tube and it looks like he will be at full feeds by 5 pm tomorrow!
The lipids and vitamins that they were giving him through a PICC line are done. They are now administering clear fluids through the PICC line and once those are done, he can get the PICC line out.
One of the many things we have been battling with are his secretions. Because James doesn’t suck or swallow, he can’t manage the secretions in his nose and mouth like a normal person can. In order to clear the secretions out of his nose and mouth, he needs to be suctioned frequently. They are going to try a medication called Robinul later this week to try to decrease his secretions.
Back on September 12th the geneticist took some blood and sent it out for lysosomal enzyme testing. She wanted to see if James had 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.
We just received the results of the lysosomal enzyme test and the good news is that James’ lysosomal enzymes are normal!
