PKU: updated

I tell you, its tough to be 7 days old!

Today was his 1 week apt and while at the Dr they were faxed the results of his PKU newborn screening and it was abnormal. This happened with Davis too.

What is PKU:

Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.

Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can be a very effective treatment. There is no cure. Damage done is irreversible so early detection is crucial.

Translation: They don't process protein and basically live off shakes that don't have protein in them for the rest of their lives.

I guess its uncommon for the test to come back abnormal but common for an abnormal test to be fine after a second screening is done. This was the case with Davis. We did this today and the poor little kiddo had to have the blood drawn from his arm vein. They even used a little tourniquet and boy did the tears flow...from Mom!

He has also lost a lot of weight and is down to 8 lbs 6 oz. So it looks like nursing may not be going as well as I thought. They want him back to his birth weight in a week from today so Thursday I will go weigh him again and if he isn't gaining we will start supplementing. The hormones the Dr gave me to help me make more milk cant be started until Sunday because they want to make sure they wont give me a blood clot.

We don't know how long the results will take but most likely a few days (they come from the state). The Dr said we will know for sure if its positive because things will go wild. For example he remembers one test coming back positive and they couldn't get the parents on the phone after an hour so they sent the police looking for them to get them to come into the Dr. I did get a kick out of the thought of Johns work being raided by the police looking for him!

So for now we just wait...

UPDATED: His test results came back inconclusive so tomorrow we are going to go in the morning for a blood test again and also for him to have a bladder bag put on so we can get a urine sample too. They said things look good since it has gone down but they want to be sure. The Dr said he hasn't seen anything like this in over 10 years. They will send the samples stat to the State and then they are sending them back east to some specialist place and they will give us a definitive answer when they have it. There is a huge rush though because the longer we go without knowing the more damage we will do if it is positive.

The good news is that tomorrow I can weigh him and the feed him in the office to get him to urinate and then weigh him again and we can tell just how much milk he is getting so there wont be any question about my milk supply.