February is Rare Disease month. I don’t currently have any big plans to write about rare disease this year (although that could change) but it’s part of our lives. Our oldest son has a rare disease called Isovaleric Acidemia. It almost killed him when he was born and we were unaware that IVA existed. He carries those repercussions in his body to this day and he will his entire life.
{The short version of IVA is that your body has a defective, though present, enzyme that should function when breaking down protein, specifically the essential amino acid leucine (essential means it’s in all protein). Because the enzyme doesn’t function, instead of leucine being broken down and continuing to be metabolized, it gets stuck and produces isovaleric acid and ammonia. IVA is managed by a low-protein diet and a medical formula, among other differing things.}
This pandemic has been especially trying for him. He is not more likely to get sick but being sick is more complicated for him. We have ended up in the emergency room to get fluids over a stomach bug more than a few times. A fever of 100.4 slashes his daily protein intake because your body breaks down your own protein when you have a fever. We pay for AirEvac because our local hospital won’t admit him and/also because he needs more specialized care at a children’s hospital when he is sick.
Since being sick is much more complicated for him, we have taken extensive quarantine measures during the pandemic. We’re homeschooling. We see only a small handful of people. My husband has been working from home. We’ve done it outside, or masked, or on zoom, or not at all. While I’m grateful for all the good our family has still been experiencing, it’s been a long year.
