I just got off the phone with the metabolics doctor.
Looks like we've moved from probable metabolic disorder/muscle disease to certain. Just generally I feel sad. I guess part of me was still hoping that all of this we would find out was actually nothing so that little piece of denial is shattered.
We are looking at a metabolic/genetic disorder in the way Andrew's body uses fat and his muscles are being damaged by whatever this is. As the muscle breaks down we'll need to watch for kidney issues (and other damage of course; he had a recent echo and so I am sure his heart is ok right now).
We have an estimated 50% chance of finding out exactly what this is genetically. Very good chance that we will at least know what specific family of things we're dealing with--he said it is looking like fatty acid oxidation disorder, mitochondrial disease, lipid storage myopathy. He is ruling out muscular dystrophy (so good news there). I know next to nothing so it is highly possible all those things are the same thing (Katie?)
We'll be having a skin biopsy in mid-August. The dr. told me he is nearly certain we are going to have to have a muscle biopsy as well. My heart sank on that as I'm so scared to put him under full anesthesia which is much riskier given his issues.
Looks like we've moved from probable metabolic disorder/muscle disease to certain. Just generally I feel sad. I guess part of me was still hoping that all of this we would find out was actually nothing so that little piece of denial is shattered.
We are looking at a metabolic/genetic disorder in the way Andrew's body uses fat and his muscles are being damaged by whatever this is. As the muscle breaks down we'll need to watch for kidney issues (and other damage of course; he had a recent echo and so I am sure his heart is ok right now).
We have an estimated 50% chance of finding out exactly what this is genetically. Very good chance that we will at least know what specific family of things we're dealing with--he said it is looking like fatty acid oxidation disorder, mitochondrial disease, lipid storage myopathy. He is ruling out muscular dystrophy (so good news there). I know next to nothing so it is highly possible all those things are the same thing (Katie?)
We'll be having a skin biopsy in mid-August. The dr. told me he is nearly certain we are going to have to have a muscle biopsy as well. My heart sank on that as I'm so scared to put him under full anesthesia which is much riskier given his issues.
