Phenylketonuria (PKU)

One of the standard newborn blood tests done at the hospital is a PKU test. Phenylalanine (Phe) is an amino acid found in protein and some other things, like aspartame. PKU is a genetic disorder where the body doesn't produce enough, or in Classic PKU cases any, of the enzyme needed for the body to process Phe. It is control by a special diet and regular blood tests for Phe level. If Phe levels are too high for extended periods, it affects cognitive skills, can cause seizures, jerking movements of the arms and legs, tremors or rashes. Babies with PKU often have lighter skin, hair and eyes than the rest of the family.

Four days after we came home from the hospital with Bailey, her pediatrician called and said he needed to see her first thing the next morning because one of her newborn tests was abnormal. That's ALL he would tell me on the phone. So after an agonizing day of wondering what was wrong with my precious little baby and lots of crying (It'll be ok, Honey, is not all that reassure to a freaked out new mom, lol) we went to see Dr. B. Once we got there he explained that her PKU test had been positive and told us what he knew about PKU. Which wasn't a whole lot because it isn't terribly common and requires a specialist. But he had printed out a lot of info from the internet for us and I left his office feeling better and more informed. The next day we had an appointment at Children's Hospital in Columbus with the Genetics department. We learned a lot more there. They told us that there are different types of PKU, and that Bailey is a HyperPhe, which is the mildest type. Her Phe levels were just barely elevated. Which was surprising because baby formula is very high in Phe. So we left the hospital with even more knowledge and a case of Phenex ( a special Phe-free formula that we had to mix half and half). Bailey would have to go to the Children's Close to Home in Newark once a month to have her levels checked.

Next we had a home visit from the the Knox county BCMH (Bureau for Children with Medical Handicaps) nurse. Bailey was about 11 weeks by this point. She checked Bailey's development and growth. She still comes once a year so we can continue to be "covered" by the BCMH, which picks up the tab on her blood test and other PKU related things not covered by other insurances. 

Bailey still has to go to Children's once a year for a "PKU check-up" and is down to ever three months for her blood checks. Her levels have always been low and her dietitian has pretty much given her a green light to eat whatever she wants, still limiting her red meat (which she doesn't like anyway). As she gets older the frequency of her blood tests will decrease even more till it gets to once a year.

Anyone who has met this child could see she obviously doesn't have any signs of PKU. Certainly not light hair or eyes, and is actually a bit ahead of most children her age. So all of my initial fears and wonderings have been thrown out the window as time goes by. As long as we do what we are supposed to my little girl will be just fine!

Lucky Mommy

Just finished feeding Elise, which was the first time since she ate right before she went to bed at 8 O'CLOCK! That's normal for her. She is an EXCELLENT sleeper. God, definitely realized how much I needed a good sleeper. After the not so fun pregnancy, I'm still trying to catch up on sleep! I found out I was pregnant because I was supposed to have my gall bladder out. The surgeon saw me for the first time on a Tuesday, and scheduled me for the next morning because she had a cancellation. So I went down to the lab for blood work about 20 minutes before they closed. When I got to the hospital at 9:30 the next morning, I don't think they even had my results yet. So I registered, they took me back to the "holding area", or whatever you want to call it, and started getting me ready. Just as the nurse was about to run my IV, another nurse came in and handed her a paper. She looked at it, and then looked up and asked, "Could you be pregnant?" I said," Well, yeah, I could be." She responded, "Well, we're not going to run this IV yet, because I think you are." And I was. About a week pregnant. Do you know how long a pregnancy seems when you know THAT early on?!


So because my gall bladder was bad to begin with, I had a "fun" pregnancy. I was nauseous 24/7. The whole time. To the point where if I didn't take Zofran, I was useless. Still had a few gall bladder attacks, but thankfully those were at a minimum. Then my liver enzymes decided to rise and bile salts built up under my skin and caused AWFUL itching. My OB had decided to do the c-section 2 weeks early because of the liver enzymes, but Elise decided she was coming a week before she was scheduled.


I started having contractions Thursday November 10th. But they weren't evenly spaced and were kind of erratic. So I wasn't certain that they were contractions. I just knew it wasn't Braxton Hicks because nothing helped. I was already scheduled for a non-stress test that day, so we just went in early. I wasn't dilated and the "cramps" weren't registering as contractions. So we went home. I just kept having these "cramps" and they got worse and worse. Finally early Saturday morning I told Brandon I couldn't take it anymore and I didn't care what they said, I was going back to the hospital. While we were getting ready to leave I lost my plug. Now we were convinced. And thank goodness so was the nurse who checked me out, because the stupid machine still wasn't registering them as contractions! But this time I was 2 cm. So after moving the stupid little monitor a thousand times to try and get them to register and finally getting a couple good ones, she called my doctor. Dr K had been there when we got there, so she already kind of knew what was going on. The nurse talked to Dr K at about 9:30 am, came in at about 9:50 and said "Well, we're doing this c-section at 11:15" So for the next hour about 3 nurses at a time were zooming in and out around me, getting everything they needed to done.


Skipping ahead to 12:22 pm, Elise Maxine joined the world at 6 lbs even and 19 in long <3


So for as much trouble as she gave me while she was still inside, she's a GREAT baby now that she's out.