Newborn Screening

Life with PKU: A Parent’s Perspective

Text from the following interview originated in an article by Allison Alexander from the Pittsburgh Post-Gazette’s Health Forum. To read the article in its entirety, click here. Reprinted with permission.

Q. When were you informed that your newborn daughter might have Phenylketonuria (PKU)?

A. The call came when Courtney was just four days old. Our pediatrician called to report a positive result on one of the newborn screening tests. Courtney, I was told, might have a rare metabolic disorder that could lead to mental retardation if not acted upon. At that point, the doctors wanted to do additional testing.

Q. Just being told that PKU was a possibility must have been extremely difficult.

A. As I put down the phone, my mind raced. How could this be happening? I hadn’t really heard of PKU, and the pediatrician had tried to answer my questions. Could the initial results be a false positive? She didn’t know. Are there any symptoms? No, not until irreversible brain damage becomes apparent. Is this something she’d grow out of? No, probably not. I remember the pediatrician saying that the “good news” was that “with a special diet, these kids can live normal lives.” It was so strange to hear that term-’these kids.’ I couldn’t help but think–since when was my child one of ‘these kids’? And who would ever have doubted that she’d live a normal life?

Q. What was it like when the PKU diagnosis was confirmed?

A. We were referred to Children’s Hospital’s PKU Clinic. The dietician was calm and reassuring, but very sure that the test was positive, which the follow up blood work confirmed. She didn’t leave much room for denial, but thankfully she had more answers for me. I asked her all the questions that had been running through my mind. Was it something I had done? Could I have caused this? I was assured, no, it was nothing that I did. PKU is a hereditary disorder in which the enzyme that processes the amino acid phenylalanine is missing. Courtney simply had bad genetic luck. Among US Caucasians, the incidence of babies born with PKU is about 1 in 8,000. In Finland, it’s 1 in 100,000. In Ireland, it’s 1 in 4,500. Both Mike and I trace our ancestry to the United Kingdom, which may have increased Courtney’s odds. But a definite contributor was that both Mike and I are carriers. Less than 2 % of the population is a carrier. And two carriers have only a 25 % chance of having a baby with it. We just happened to be two carriers who fell in love and had babies.

Q. What, exactly, does the special diet for infants with PKU entail?

A. PKU results in a dangerously high level of phenylalanine in the blood, so patients must strictly limit their intake of this acid, which is found in protein products such as meat, eggs, nuts, dairy and soy, even bread and pastas. Most become vegans, eating primarily fruits and vegetables. Food labels that were once gibberish to us now made sense. There are warnings to “phenylketonurics” telling them the product “contains phenylalanine.” Anything with aspartame— diet sodas, sugarless gum and sugar-free foods–contains phenylalanine.

Q. How are you dealing with the reality of PKU now?

A. The entire situation has led me to be thankful. I’m thankful for the support network I’ve encountered, including the PKU support listserv I’ve joined. I’m thankful for the newborn screening test that detected Courtney’s condition and the other 200 PKU cases in the United States each year. I’m thankful that a treatment exists. But mostly, I’m thankful to have a wonderful baby who, other than the diet she must follow, is normal in every way. She will live a normal life as long as she follows a special diet. Courtney takes a special liquid formula that provides everything for her developing body except phenylalanine. We will manage her strict diet until she’s old enough to do it herself. I have hope, too, that by the time she’s tempted to eat pizza with friends, there will be a drug alternative to dietary treatment. Progress is being made in this area.

To join the PKU support listserv, click here

Allison Alexander, the mother of two children, is the marketing manager at the Pittsburgh Post-Gazette newspaper. She can be reached at