Abnormal Blood Test

I went to see Logan this morning, and the doc gave me some troubling news. Standard procedure is to run a blood test when a baby is first born, they then repeat the test when the baby is 25 hours old.

I was informed this morning that while the first test came back completely normal, the 2nd test came back with elevated levels of a specific amino acid.

This means that there is the potential that Logan could have a genetic disorder called Citrullinemia. Children with this disorder have an enzyme that is missing or not working properly. Without that enzyme ammonia builds up in the blood and can lead to serious complications if not treated. Complications can include muscle weakness, breathing problems, seizures, swelling of the brain, coma and sometimes death. To avoid this build up (and these complications) most common treatment is a low protein diet for the rest of his life - no dairy, eggs, nuts, meat, etc. At the times when it does build up hospital stay with IV treatment would be needed.

I want to be very clear. They ARE NOT telling me he has this. One of the levels on his blood work points to the possibility, but it could have been just a fluke. They are re-running the tests again, and I should know in about 2 weeks. If he does have it, our next step would be a geneticist.

I am taking things day by day, but I am optimistic it will be a false alarm. In looking through the information I have noticed that he is not acting like a baby with this disorder would typically act. First symptoms are poor appetite, extreme sleepiness, irritability, and poor growth. Logan is 0 for 4. In fact - he gained another 2.5 oz yesterday putting him at 6lbs 11.9 oz. The doctor also told me that because this is a genetic disorder and not caused by anything but DNA - that typically we would have seen somebody in our family with the same disorder. That's not always the case because we could just be carriers, but typically it's rare to have a baby with this and NO family history of it. Bryan and I do not have any family history of this (or even heard of it until now), so it's another reason for me to feel confident.

As much as I expect everything to be normal, as a mother I still want to KNOW that my baby is healthy. Please pray for the results to come back normal, and that my Logan is a perfect baby.