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!