Diagnosis

We just heard from the Metabolic Doc. They have made some progress in narrowing down the cause.

They believe that Simon has some sort of genetic disease that causes his cells to produce too much lactic acid in the Metabolic process. The tech name for this catagory of disease is pyruvate decarboxylase deficiency. There are two likely specific diseases that are the cause and both are very rare. They explain why appeared so healthy and got so sick quickly.

The result will likely be that we will have to watch for signs of stress (infection etc) and be prepared to get him help quickly. They are going to repeat some of the blood and urine tests as well as do a muscle and skin biopsy. Surgery is scheduled for Monday for the biopsy's.

Treatment will be mostly a matter of managing the condition, being familiar with early warning signs and providing help quickly (probably hospital visits) when he get's sick. There may someday be some gene therapies available but not yet.

There was some brain damage effecting the parts that coordinate his swallowing. So they are leaving in the NG (nasal feeding tube) and are considering a G tube (stomach tube) which would mean surgery. Dean and Summer are hoping to avoid this proceddure. He is now getting most of his feeding through the tube and a small amount by mouth so help him practice swallowing.

Pray that his brain repairs itself and he can feed normally.
Pray that they determine the specifis metabolic cause and provide a good management plan.
Pray that Simon handles the stress of surgery on Monday.
Pray that we can bring him home soon... but not too soon.

Thanks

Tom

[Posted from my cell phone]