PKU stands for Phenylketonuria (PHE-NYL-KE-TON-URIA). Phenylketonuria is an inherited disorder. People who are born with PKU are normal in every way except to stay healthy they must follow a strict diet which limits phenylalanine, a common part of most food. People with PKU have an inactive liver enzyme.
Phenylalanine is only one of the many amino acids which are joined together to form proteins. Normally, when a person eats foods containing protein, their body uses the amino acids from that protein for growth and repair of body tissues. Often we eat amino acids in excess of the body's needs. These excess amino acids are chemically changed by enzymes into other compounds or used for energy. Since individuals with PKU are missing the enzyme for normal phenylalanine break down, the excess eaten in foods accumulates in the blood and begins to damage the brain causing severe mental retardation.
If blood phenylalanine levels stay too high over a period of time, the damage to the developing brain is severe and irreversible. The harmful effects of PKU can be prevented if a diet low in phenylalanine is started in early infancy and maintained throughout life. The phenylalanine restricted diet is the only way to bring blood phenylalanine levels down to a safe level. At these safe levels, the brain can function normally and the person with PKU can learn easily and have stable emotions.
What are the odds?
PKU is a recessive trait, meaning both parents of a child born with PKU must be carriers. About 1 in every 15,000 babies born in the US has PKU. Only 1 out of every 50 people carries the gene. The chances of 2 carriers meeting, marring and conceiving a child is 1 in 2500, and the chances of each child they bear having PKU is 1 in 4. I guess we beat all the odds! HeheTreatment for PKU…
The treatment for PKU is a strict, very low protein diet. The diet completely excludes any kind of meat, dairy products, nuts, artificial sweeteners, or even protein substitutes, like soy. Vegetables, fruits and specially made low protein foods are the staple. A special medical formula provides the person with PKU all the protein the body needs without phenylalanine. If started in the first weeks of life the diet is very successful at allowing a healthy life.
As im sure most of you know we are a family of 5, 3 who do not have PKU and 2 who do. A lot of people ask us questions about PKU and how we deal with and feel about PKU. Its very hard to explain our day to day life living with PKU because yes we (including my 2 girls with PKU) live a normal life however our normal is very different from your normal….. I have thought a lot about how to go about blogging about this, do I just explain PKU, do I sugar coat things, do I dwell on the negative…… I guess all I can do is tell you my story and try to be as true to my feeling as I can, that means the good and the bad. It will take alot of different post to explain everything, im sorry
, they will be long, and probably confusing but hopefully when I am done you will have a better understanding of our “normal” life!So here is my story…. I'm sure most of you have never heard of PKU. The first time I really paid attention to the word Phenylketonuria (PKU) was when a lady named Fay who works for the state of Utah tracked me down at my parents house. It was June 4th, 2003, my 21st birthday! Mike was going to take me out to dinner for my birthday and I had made plans with my parents to watch Taylor for us. I remember being at my parents and hearing the phone ringing in the background while I was holding my new, tender, perfect little baby girl! Someone handed me the phone im not sure who it was but I think it was my mom, and that’s when my world fell apart. Fay introduced herself and then got right to the point……. “Your daughter Taylor has Phenylketonuria (PKU). This is a VERY serious metabolic disorder that can cause severe mental retardation. At this point I felt like there were 2 of me, the one trying to play it cool and the other completely losing control. She TOLD me that me, Mike, Taylor and Taylors grandparents (if they could) were to meet at some building right by Primary Children's Hospital ( I don’t remember the name of the building) at 7:00 am the following morning. I know she told me a lot of other things because I had to keep asking her to repeat herself because I was crying so hard I couldn’t hear her. After we hung up with each other I had to tell my family what was going on, I was a MESS and im not sure they really understood me through the tears but they got the jest of what was happening. Now it was time to call Mike….. this was one of the hardest things I have ever done because I knew EXACTLY how he was going to feel. We cried a lot together and as a family.
The next morning meeting with our new PKU “team” was very over whelming. There were so many doctors, more test, a lot of questions and a lot of tears. They helped us better understand PKU and then the teaching began….. it was like going back to school again, really, only I keep thinking I can’t fail this, and who knew my algebra teacher was right, I really will use algebra in my life and I am awful at math. Hehe On a funny note when our dietitian ask me how I was at math and I told her REALLY bad you should have saw her face! I didn’t think she was going to let me take Taylor home and just so you know it took about two years for that look to leave her face! She made sure I could take care of my little girl before the smile came back! Anyway…… the next few months were like a blur id like to say there were a lot of ups and some downs but really for me there were some ups and a lot of downs. The blood work that we had to do on Taylor (yes that’s right I said we not the doctors) was REALLY hard to get down, and to not cry through the whole process. Let me explain this a little, you have a very little foot that you have to slice open about the width of a pencil eraser and then squeeze the foot backwards very hard so that the foot touches her shin because for this type of blood work you need enough blood to fill up 3 big dots on some special filter paper and to get that much blood out of a little tiny foot, well that’s not very easy! The measuring of EVERYTHING she ate, the timing of how long she nursed. The pumping to keep my milk on days I couldn’t nurse her at all due to high levels. Still trying to learn all of the rules and the most important…… trying to be ok with the fact that your perfect baby is in a sense not perfect.
As time went on things definitely got better. We have learned how to deal with PKU. We have learned to be very prepared for the unprepared, I had no idea how much life revolves around food! Our life with 3 little girls 2 with PKU is normal, challenging and different from yours but good. In my next post of many to come about PKU I will try to explain why our normal is a tad different. I hope I have intrigued you to follow our story and learn about PKU.
