The Diagnosis

It has been 17 months since we received the phone call explaining that our seemingly healthy daughter's newborn screen test had come back positive for Phenylketonuria. We were told to go to our doctor within 24 hours to seek treatment.

Yawn!

After scheduling our appointment, my wife and I took to the Internet to see who could terrify the other one the most. We read things like, "symptoms include seizures and mental retardation” but also “totally treatable through altered diet”.

When we visited our pediatrician we were handed a sheet of paper from the Illinois Department of Health. It stated that we needed to visit one of three doctors in the state who treated this specific condition and we were sent on our way. We choose Dr. Paul Wong because he visits a hospital close to our home once a month. Since this first visit was time sensitive, we had to take Laurel to Rush University Medical Center in Chicago.

As you can see he is kind of awesome.

Dr. Wong and our genetic therapist Kisha Johnson explained the basics of PKU, took a “genetic history” from both of us, and attempted to collect a urine sample from a newborn (it went surprisingly well).  Kisha explained, to confirm the diagnosis they would test Laurel's blood and urine to get more complete results and she would begin treatment as soon as possible, based on the results.  Having  a large amount of blood drawn from a two week old is horrible, more to come about that in future posts.

A couple of days later, the results were in, Laurel officially had PKU.