Friday, April 10, 2009

More Test Results

The nurse called today to let us know that she had received the test results from Owen's urine analysis. The results showed that 2 out of 15 of his urine test came back elevated for the fatty acid oxidation disorder. To be honest, we're not sure what this means. We're still waiting on one more test ( the acylcarnitine levels) to come back, and hoping that it's normal. For now, we're going to continue with what we're doing...meaning feeding at least every three hours. We have a doctors appointment with Dr. Froman on Monday morning and we're in the process of getting set up with a geneticist.

After talking to the nurse and reading everything that google has to offer about this disorder, this is what we know...There are many types of Fatty Acid Oxidation Disorders (FODs). Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is the one that Owen may have. This means that he may be missing the enzyme needed to break down stored fat. So if he goes without eating for long periods of time his body starts working really hard to break down these fats and causes episodes of hypoglycemia. This is when he may present with lethargy, hypotonia, failure to thrive, persistent vomiting, etc. If he was to present with these symptoms, immediate medical treatment of IV glucose would be necessary. Management of this disease includes avoidance of fasting, aggressive medical management during illness, and a low fat/high carb diet.

Although all this testing has caused a lot of worrying, we are grateful that we're finding out now rather than later. We're going to continue to be optimistic until all the test results are in and we know what we're dealing with. Please keep Owen in your prayers.


Amber said...

I am praying for Owen. He is so beautiful. I love all the proud of you guys!