James had some blood tested a few days ago for long chain fatty acids and it came back normal which means that he does not have adrenoleukodystrophy…thank God! Adrenoleukodystrophy (ALD) is a rare genetic condition that causes the buildup of very long chain fatty acids (VLCFAs) in the brain. When VLCFAs accumulate, they destroy the protective myelin sheath around nerve cells which are responsible for brain function. Without the myelin sheath, the nerves can no longer relay information to and from the brain.
They also ran an amino acid panel on his blood, which came back normal as well. Amino acids are organic compounds that play an important role in properly digesting food, creating usable energy, maintaining health and functioning normally. This test panel is used for diagnosis and monitoring of inherited aminoaciduria (presence of amino acids in the blood), organic acidurias (inherited metabolic disorders), and urea cycle defects.
They ran an organic acid test on James’ urine and it, too, came back normal. Organic acids are a broad class of compounds formed during fundamental metabolic processes in the body. Metabolic reactions produce these compounds from the digestion of dietary protein, fat, and carbohydrates. The resulting organic acids are used by the body to generate cellular energy and provide many of the building blocks necessary for cell function. Several diseases are associated with abnormal organic acid levels such as depression, anxiety, cardiovascular disease, neurocognitive decline, diabetes, cancer, anorexia, and many others.
James is still eating 20 ml of breastmilk over 3 hours. They don’t want to push him too much, too fast. He is still taking Pepcid and Reglan which is hopefully helping with any reflux and gastrointestinal (GI) issues.
The speech language pathologist came by to work on his oral motor skills. She created a lot of secretions and Stacy could tell that James was working on clearing them himself. He did need to be suctioned, but he was trying.
The physical therapist (PT) also stopped by and showed Stacy some more moves to use on James when he is laying on his belly. The next time the PT stops by she will bring pictures and a little write up on what to do.
On Monday genetics is sending more blood to run an organic acid test and a microarray test. These tests could take 4 weeks, but the geneticist will let us know as soon as the results are back. I thought they had already sent some blood out for the lysosomal enzyme test on Saturday, but I guess they didn’t. If you didn’t read Saturday’s post, they are running this test 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.
The microarray test is being run to find out if James has a medical condition caused by any of the following:
- a small missing piece of chromosome (deletion)
- a small extra piece of chromosome (duplication)
- the entire chromosome pair being passed down from one parent
- large parts of multiple chromosomes being the same
Around 5:00 pm they put in NG- and NJ-tubes for his feeding. The NG-tube, or nasogastric tube, is inserted through the nose, runs down the esophagus, and into the stomach. The NJ-tube, or nasojejunal tube is also inserted into the nose like the NG-tube, but instead of stopping at the stomach, it continues to the first portion of the small intestine. You can see both tubes in the pics below. I would think running two tubes down the same nostril would be uncomfortable, but James doesn’t seem to mind it.
Here’s an updated family picture, which was taken before the NG- and NJ-tubes were put in.
