We had only been home from the hospital with Avery for one whole day when three stupid letters changed our lives forever: PKU.
The pediatrician gave us very little information when he called to tell us we needed to go to Primary Children's Hospital for additional testing. When Kyle asked him what PKU was, all he said was that it can cause brain damage. You can maybe imagine how we felt.
We couldn't get in to the hospital until the next morning and I spent the whole night worried and scared. We had no idea what PKU was but the thought that something could be wrong with my perfect, tiny newborn was absolutely devastating. I kept praying that maybe it could be a mistake.
At the hospital we met with a geneticist and dietician who explained that because of her initial PKU test results, Avery was going to need treatment right away. I thought we were just going in for additional tests, but that wasn't the case. I totally lost it. I cried the whole time we were at the hospital while trying to make sense of what they were telling us. I don't think I've ever felt so heartbroken before.
She was only 5 days old and I felt cheated and angry and vulnerable. I felt cheated out of enjoying every moment with our newborn without worrying about her health and her future. She changes so much every day and instead of soaking in her 5 day old cuteness, I was emotionally shattered and cried pretty much nonstop. I was so angry that this had to happen to her, and to us. Angrier still that, because PKU is a genetic disorder, every child we have will have a 25% chance of having PKU. Angry that everywhere I looked were people with "normal" children. And I felt vulnerable as if now anything could happen. As if something else could go wrong at any moment. It was like we had a perfect shiny bubble of carefree happiness when we left the hospital and it was completely destroyed with the news about PKU.
Avery will have to deal with PKU every day of her life and that pissed me off. I haven't been a parent long, but it's been long enough to understand that parents want to protect their children from everything possible. There is enough out there already for her to worry about in life and the thought of her working every day to manage this disorder wasn't fair. And it made me mad.
The pediatrician was right: PKU can cause brain damage. But what we quickly learned is that it is also manageable through diet and that brain damage is totally preventable. "Individuals with PKU cannot process the amino acid phenylalanine, which is present in most foods. Without treatment, phenylalanine builds up in the bloodstream and causes severe neurological complications, including mental retardation. The standard treatment consists of a strict diet very low in phenylalanine and daily consumption of special formula containing life sustaining nutrition. If the diet is consistently and strictly maintained, individuals with PKU will develop normally." from here
What this means for us is right now Avery alternates between a special (very expensive) formula and breastmilk every day. When she starts regular food we will have to weigh everything she eats and record it. She will never have foods high in protein like meats, fish, eggs and dairy. We also have to prick her heel regularly (right now it's twice a week) and send blood samples to be analyzed to check her phenylalanine levels.
Avery is now 3 weeks old and I think I have come to terms with all this PKU stuff. I expect that it will become difficult again when she starts baby food and again at other milestones and when she starts school and when she goes to a friend's birthday party and things like that. But for now, I have accepted that this is our new reality and our lives will never be exactly the way I had expected they would be.
Even if God had told me before I got pregnant that Avery would have PKU, we would not have changed anything. We would have still had her. We love her more than anything and wouldn't trade her for the world. Some of my saddest moments in dealing with this are thinking that she will never have an ice cream cone or chocolate or a juicy steak or a hamburger. It sounds so silly to even think that but food is such an important part of our culture (and especially my life!) and it is going to be very different for her. How will it be when she gets invited to a pizza party? Or to a friend's house for dinner? Or gets asked on a date to a restaurant? Or when she goes to college?
In worrying about her future one night I had the impression that Avery was born with the strength and ability to deal with this and that we need her more than she needs us. It scares me to think of the future and all the ways PKU is going to affect it, but the most important thing is that Avery will be fine. She will be healthy and unlimited in anything she wants to do in life. And as much as I wish I could take the PKU away, I am grateful she does not have anything more serious or life threatening and I am grateful it was detected before it could be damaging to her. Most of all, I am grateful we have her. She still is our perfect, tiny newborn and slowly our shiny bubble of carefree happiness is being put back together. Even if PKU has to be a part of it.
More about PKU: