PKU and Lou

It's Saturday morning and I'm writing this as my son flails around on the sofa, hiccuping, cooing and certainly soiling himself. I couldn't be in a better place.
Mary and I have had a very emotional week.
On Wednesday, we went to Louis's one week pediatrician visit. She was very impressed with our little man; good skin color, great reflexes and he was putting on weight. There's just something about that Mama's milk! At the very end of our visit the doctor shared with us the results of a mandatory metabolic and genetic screeing that the hospital does on all newborns. Every thing came back negative for problems except his levels of phenylalanine were very high. This is an indicator that a child may have the metabolic disorder, Phenylketonuria or PKU. It is rare, so rare in fact that our pediatrician, in 6 years of practice, had never seen a screening test positive for PKU.
Mary and her mom took Louis to Children's Hospital to have a much more specific blood test done. We were scared and as most of us do we immediately consultated that great modern day sage, the Internet. What we found out scared us. Simply, PKU is a metabolic disorder in which an enzyme needed to process one of the eight amino acids (the building blocks) of protein, phenylananine, is either missing or deficient. Without the ability to process this part of protein, which is present in nearly all foods, the phenylalanine builds up in the bloodstream and causes brain damage and mental retardation within the first year of life. That was the worst news. The good news, we quickly discovered, was that now that PKU is detected so early in a newborn's life any retardation or developmental delay can be avoided by immediately instituting a restricted diet, one that avoids nearly all phenylalanine. As an infant this means supplementing mom's breastmilk with a special formula. As a toddler and adolescent this means no Cheerios, no hamburgers, no spaghetti, and worst of all, no pizza. Protein is basically kept out of the person's life.
Mary and I were a wreck. We were so thankful that if Louis did have PKU we had spotted it early enough to avoid any developmental problems. But what would this mean for him for us. He would always be different; he couldn't eat birthday cake with the rest of his friends, he would have to pass on the pizza and always opt for the salad bar. If his phenylalanine levels went too high he would get irritable, have trouble thinking and feel sick.
We met with a metabolic doctor and genetic counselor yesterday to get the results of Louis's second, and much more specific blood test. The results were wonderful! The results show that Louis certainly does have PKU, but fortunately a very mild form of the disorder. His phenylalanine levels were higher than normal but not high enough that we need to change his diet. This may change as he gets older but the doctors were confident that as long as his levels don't increase he should lead a perfectly normal life and still be able to eat what all his friends eat. We need to test his blood every two weeks, and then every month while he grows up to make sure his levels stay low but what a small price to pay to know that our son is going to be ok.
PKU is a rare genetic/metabolic disorder that affects about 1:12,000 people. Only 2% of the population is a carrier of the recessive gene that causes PKU. Mary and I marvel at the chance that of this 2% of the population we got together and created a baby. When two carriers of the recessive gene have a child there is only a 1:4 chance that the baby will be affected. Louis was that one, but luckily it looks as if he inherited a mild form of the disorder.
As a said earlier, this has been a very emotional week for Mary and me. We're both relieved to have received the news we have. Here's some more information about PKU.
Have a great Easter weekend.