My PKU Baby

We finally had our sweet little baby after a loooong  process of infertility and pregnancy and truly thought we had our happily ever after.  Four days after Scarlett was born the hospital called us and said she had tested positive for some things they automatically tested for at birth. They wouldn’t tell me over the phone what they were and asked us to come in immediately to speak with them. Of course when you get a call like that, stress and worry instantly take over and tears begin to flow. Tyler and I were trying to be positive but couldn’t help but think the worst inside. As we drove to the hospital in silence I told myself, “ok, it can’t be too bad, she looks normal and they said she was perfectly healthy just that morning at the Pediatrician’s office,” hoping it was something like thyroid  issues that I had passed  down to her. After what seemed like hours  but was only about fifteen minutes, we got to the hospital and they took us in and told us about her disease. At first we were just in shock because we had never heard of a disease called  Phenylketonuria  or PKU for short, they didn’t really know how to explain it to us because they had never seen a case of it and didn’t have specialists at that location. Then we just burst into tears hugging each other. I will never forget standing in the hallway right after hugging Tyler and crying while people just stared and walked by, but we didn’t care.

We had no idea how PKU would affect her or our family, it was just so scary and so unreal. We were both so healthy, how could our baby get something so rare and random. Something that could possibly take her life or her mind when she had just come to our family.

The next few days consisted of constant sobbing and worry since we couldn’t get into Primary Children’s Hospital for days and her diet was what could cause brain damage, but we did have the amazing support of both our families and the prayers of many friends. Despite our pleas with God to get a call saying that it was a mistake diagnosis, we got the call that confirmed her disease. We then decided that we just needed to accept it and try to be as normal as we possibly could, “this is my new life and I have to be strong for her,” I said to myself over and over. That was 14 days ago. I am doing much better but I still cry about it. I know things could be so much worse so I am grateful it is what it is, and they found it just in time to let her live a normal life in most ways. I realize we did get our happily ever after, it is just a little different than we thought it would be and that’s ok.

What is PKU and how did my baby get it?

PKU is a genetic disease passed down through Tyler and I to our baby. In simple terms, or what I understand it to be at this point is that she can’t break down protein, therefore it builds up in the brain which then causes brain damage leading to severe retardation. This can all happen without the person even knowing what they are doing to themselves which is why she must always stick to her very strict diet for the rest of her life. Every baby in Utah is tested right at birth because in order to prevent brain damage it must be found in the first few weeks of life.

Her diet consists of a special formula and some fruits and vegetables when she is older. She will never be able to eat meat, dairy, beans, nuts, most grains, and certain fruits and vegetables which is why the formula is so important for her survival. It sounds terrible to most people but since I have talked to other moms with PKU children, I have realized that there are creative ways to let them enjoy food when they can eat it and not make it such a trial to them. Everything eaten is weighed out on a scale in grams so they can stay inside healthy levels of protein for them to grow and develop. We also do weekly blood tests to check her levels, and at about age five she can do them monthly for the rest of her life.

Against all odds, and I mean ALL ODDS, this disease came to our little family. One of Tyler’s parents and one of my parents carried the recessive gene of PKU (recessive means not dominant) and it passed down to Tyler and I also recessively. There is a 1 in 100 chance that Tyler and I would end up together and well, we were meant to be so that’s that. Because we both carry the gene all of our children have a 25% chance of having PKU and Scarlett was that 25%. One baby in every 15,000 is born with PKU. We also were told we had a 2% chance of getting pregnant with the procedure we did so Scarlett is just a miracle baby no matter how you look at it. Tyler decided that our odds were so good he should probably take a shot at the lottery;)

As I learn more about PKU and talk to other people who have it or children with it, I realize it is a huge lifestyle change, one that I know I can do and because I love my baby girl it’s so worth it. Although vacations, family dinner’s and even our everyday life will be different (much more organized and planned out) from what I imagined, they will still be amazing memories as a family. My little Scarlett is our greatest blessing and I just love being her mommy.