Important Information about Ethan

It wasn't until now that we have been able to come forward about this. Matt & I have know since Ethan was a couple weeks old that he has a metabolic disorder. I'll start from the beginning. When Ethan had his newborn screening one portion came up abnormal. His bloodwork showed that he had elevated levels of phenalaline (a protein that the body breaks down). Further tests showed that he may possibly have Phenylketonuria (PKU) - an autosomal recessive genetic disorder characterized by a deficiency in the enzyme hepatic phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. This can be treated through diet, if left untreated it can lead to brain damage. This is treated through diet by taking in a minimal protein intake. A person who has this is essentially a vegan. Ethan was put on a special formula that has no phenalaline in it then was tested again a week later. His levels came back dangerously low so they did half Enfamil & half Phenex then tested him a week later. Again his levels came back dangerously low. A genetic test was done to see if Ethan had PKU. While we waited for the test results on that his levels were checked every week. Each week his levels continued to come down. It was suspected that he had what is called transient PKU from a immature liver. This means that the levels would slowly go down to normal over time as the liver matures. His genetic test came back that he is nothing more than a carrier for PKU.

Since he has been home we have continued to keep him on a normal diet & monitor his levels every month (now every 3 months). The last 4 levels have hovered in the 4.0 range which is safe. Normal range is less than 1. Anything between 2-6 is considered safe & does not need to be treated with diet. 6 months ago it was assumed that he has Hyperphenylalaninemia - an abnormally high concentration of phenylalanine in the blood. This symptom may be the result of one of several defects in the metabolic process of breaking down phenylalanine. Essentially Ethan has some of the enzyme needed to break down protein.

To explain further how it works, all foods have phenylalanine in it. The body breaks that down into Tyrosene. Then that breaks down into other amino acids. A person who had Classic PKU (CPKU) can't break the phenylalanine into Tyrosene so when they are tested their Tyrosene levels will show up as low. Normal Tyrosene levels are 20-110. Ethans levels have been coming back on the high end of normal between 70-90. This means that he is breaking down some of the phenylalanine.

Ethan has been seeing a specialist for this. We have been talking to the dietician that works with that group. She didn't recommend that we start Ethan on meats until he was 10 months but we decided to push the envelope a little & went ahead & started him on meats 2 weeks ago & his levels came back the same as they have been. So we met with his Dr today & they would like to do a challenge. What they want us to do it to give him meat every day & then get him tested again in 10 days. If his levels come back still in the 4 range then we are going to know that there will be no need to limit what foods that he eats. If his levels come back above 7 then our course of action will be to limit how much meat he can have. The reason why we worry about the meats is b/c meat has high level of phenylalanine.

There are a few things that Ethan will never be allowed to have. These things are anything that contain NutraSweet, Splenda, Asparteme, essentially artificial sugars. The foods that include these would be diet pop, protein shakes, & any foods cooked with these.

We are going to be keeping a log starting 4/1 of everything Ethan eats. We'll continue to do this until we know for sure how much meats Ethan can tolerate in his diet. B/c we are keeping track of what he eats we ask that we are asked first if Ethan can have certain table foods before it is given to him. We need to know how much is given to him so that we can log it into his food journal.

The reason that we didn't come forward about all this in the beginning is we just didn't understand it all ourselves & there really were no answers. Things like this take time to figure out. It has taken us 9 months to truly understand how it all works. At this point there are no concerns. His development is right on track for what is expected of a preemie.