PKU is not a disease, it is a condition, a rare genetic metabolic condition, which means it is inherited from parents, who usually don't even know they carry the gene, and metabolic means that it affects how the body breaks down foods. People with PKU have a missing or malfunctioning enzyme in their livers that is supposed to digest phenylalanine (which we call "phe" for short), which is one of the 20 amino acids in protein. If a PKU person eats high protein, like a hamburger, their digestive system breaks down all the protein except that one part, the phe. Since the phe isn't digested, it gets into the blood, and too much of it builds up in the bloodstream. When it gets into the brain, it is toxic and causes damage. If this happens for a long period of time in a baby or a young child, whose brain is still growing and developing, it can cause serious mental disability and delays. If it gets too high in an adult, whose brain has already grown, it can cause them to feel depressed, very sleepy, irritable, and have trouble concentrating, even have headaches. The way to keep from having too many phes is to always eat a diet that is low protein. Since nearly all foods have at least a little protein and phe, everything needs to be measured or weighed to count the phe. The doctor and dietician look at blood tests and weight and figure out how much phe the body needs and give a phe prescription, or a limit to how much phe can be eaten each day. People with PKU use a book or a website to find out how much phe is in foods. They keep a journal of what and how much they eat to make sure they don't go over their phe limit each day. Weekly or monthly they have to send in a blood sample, by sticking their finger, so the doctor can see how much phe is in their blood and that they are getting the right amount. Because high protein foods, like meat, dairy, and soy, are too high for people with PKU to eat, they have to drink a special formula, or special milk, that is made with all the protein they need without the phe in it. They have to drink this formula every day in order to grow and stay healthy. People are diagnosed with PKU just a few days after they are born. The hospital does a heel stick, called Newborn Screening, that checks babies' blood for all kinds of different diseases and conditions, one of which is PKU. Since everyone in the U.S. is tested at birth, treatment is started right away, and as long as the diet and treatment are followed, PKU causes no problems at all. The "only" thing a person with PKU has to worry about is what they eat and drink each day.
It sounds easy, and probably is compared to some things, but in reality it does take a lot of work, planning and preparing. And explaining. And I am sure when the kids are older, it will be emotional for them to deal with at times in their lives. As a parent of small children with PKU, I do a lot of work right now. I read all the time, whether it is PKU information and research, cookbooks and recipes, or stories of other PKU families. I do a lot of cooking and preparing. I mix two different formulas every day, one for Carson, who is 5, and one for Allison, who is only 5 months old. They use different formulas right now since they are so different in size and their needs are different. I make a loaf of homemade bread every week or two for Carson to take sandwiches to school. I sometimes make him a homemade snack to take to school, like chocolate chip cookies or brownies (low protein, of course). I keep emergency foods made up in the freezer, like low protein cupcakes to take to parties. I make Carson a separate supper every night, sometimes just one part of the meal, like I have to make him separate pasta noodles, but we can eat the same sauces (we like pesto or spaghetti sauce). I like to keep little notebooks to calculate their intake, and it is about to get interesting because Allison is just now starting to eat baby food (eek!). I do a lot of math, weighing and measuring food, and calculating phe intake. I do a lot of planning, like deciding what Carson will eat when we go to a family dinner, or church, or a friend's house, or a restaurant.
It sounds like a lot, but I am not complaining at all. I have been doing this for 5 years now so I am already used to it. It is like second nature to me. The only time I freak out is if I forget about something and Carson gets upset, but even then we have emergency plans, like go get some tater tots from Sonic, or a banana, or a Rice Krispie treat, or some kind of cereal he likes. There are regular foods he can eat too, and he eats those quite a bit. He eats Cap'n Crunch or Chocolate Cheerios for breakfast. And yes my work is about to be doubled, but it will happen slowly and I will be able to ease into it, so it should be no big deal. I only share all this so maybe those of you reading it will come to an understanding. If I ever seem spacey or in another world, I may just be thinking about what needs to be done. Maybe I am planning some recipe to look up or try for Carson because I saw something that gave me an idea. Like the other day he wanted cheese dip, and he has never had cheese dip before, so I was thinking why he suddenly asked that and how I can make him some. I may be thinking in my head what I need to buy for this recipe and how much phe will it have and I need to add to my grocery list and I need to look that up in the book and see how much phe is in that...
Now I am wondering what Allison will be like when she gets older. Will she be as easy to please with the diet as Carson is? He is partial to certain foods and I know what he will eat, but he is usually willing to try new things too. He is pretty easy to plan for because he is routine-driven and pretty predictable, and he doesn't ever try to eat off anyone's plate. But will she? Will Allison be like Maggie and only want what is on my plate? Will I have to put her food on my plate just so she will eat it? Will she cry for something someone else has? Will I have to make more of a variety of foods that match regular foods for her? Or will Carson have an influence on her? Will she be easy-going or dramatic? While it seems stressful to wonder and worry, it is fun to think about too. I look forward to trying new recipes and make it an adventure!
The best thing to do for my children right now is to have a positive attitude. Not just myself, but everyone around us. Carson and Allison are rare and pretty special, if I must say so. I want them to always know that and to have a positive attitude about their diet. We try to keep it low and not make a big fuss about it. It is what it is. They eat something different than we do. Period. We get our protein from high protein foods, they get it from their special milk. I want to teach them all about it, how to make and measure and calculate and order all these foods for themselves, so when they grow up they will have all the knowledge they need to stay on their diet. I want to motivate them and help them to remember how important it is to stay on their diet. That is why I want to always stay positive, even saying they "don't" eat that instead of they "can't". If I continue to do everything in my power, then I have done my job as a mother to equip them and just hope and pray they can handle it when the time comes for them to!
This year, I am thankful for so many things when it comes to PKU. I am always thankful for the Newborn Screening diagnosing them early and for the nutritionists who are our lifeline at the clinic. Even though it is devastating to find out that Allison has PKU too, I am thankful that I know how to handle it, and that Carson is not alone, nor is Allison. They have each other for an inner support system now and hopefully for life. I am so grateful for the wide and growing support system of other families who live with PKU, especially moms like myself. I love to read and interact with others who understand and "get it". We have a few facebook pages and websites where we can converse. I am most thankful for the wonderful family and friends that I have who are so positive and supportive of us and the diet. They help, they learn, they teach, they support, they ask questions, they make all the difference in the world. I love them all! We are so blessed!
