Stacy talked with the geneticist today who confirmed that they sent out James’ bloodwork to Dave Wenger Labs in Philadelphia to test for lysosomal storage diseases. These 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 geneticist confirmed on Friday and confirmed again today that James does not have adrenoleukodystrophy, which is a relief. 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, responsible for brain function. Without the myelin sheath, the nerves can no longer relay information to and from the brain. There are other types of leukodystrophies, but the geneticist does not think he has any of them.
James had another one of his crying spells today, but he quieted down after Stacy picked him up. Maybe this is just his way of saying “hold me momma”.
The hearing tech tried to redo his hearing test this morning, but couldn’t get a good reading. She came back in the afternoon with a different machine, but still couldn’t get a good test. She said that James’ breathing was unregulated so she couldn’t get a good reading. They will try again another day and may need to sedate him.
