PKU

About PKU

Phenylketonuria (classic PKU) is a rare genetic metabolic disorder. The defective gene lacks the enzyme phenylalanine hydroxylase, which converts one of the essential amino acids from protein, phenylalanine, to another amino acid used by the body. This results in a build-up of phenylalanine in the bloodstream, which at high levels over a period of time can result in brain damage. In other words, the body cannot process a part of protein, which, if untreated, can lead to mental disabilities or other brain disorders.

PKU is a recessive trait, therefore both parents of a child born with PKU must be carriers. From some sources, only 1 in 14,000 babies born in the U.S. has PKU. Only 1 out of every 50 people carries the gene. The chances of 2 carriers marrying and conceiving a child is 1 in 2500, and the chances of each child they bear having PKU is 1 in 4. What odds!

PKU is diagnosed by a blood test, a heel prick given about 24 hours after a child is born.  It is one of many conditions tested for by Newborn Screening (click link for more info).

The treatment for PKU is a strict, very low-protein diet for life. The diet almost completely excludes any kind of meat, dairy products, nuts, or even protein substitutes, like soy.   Measured amounts of vegetables and fruits are the main staple.   There are also many low protein food substitutes available.  A special medical formula provides the patient all the protein the body needs without phenylalanine. If started in the first weeks of life and maintained, the diet is very successful at allowing a healthy life.

Our Experience with PKU

Our son, Carson, was diagnosed with PKU when he was about 10 days old.  We got the first call from his pediatrician about his blood test results a few days after we got home from the hospital.  Carson was a bit jaundiced, but we were able to monitor it and not have to keep him in the hospital past normal stay time.  His doctor called and it was a very unexpected call.  I thought everything was fine, his jaundice was gone, and now this came back abnormal.  I knew nothing about it, but because his level was 5.8, we had to take him to Birmingham for a retest.  That result came back with a blood phe level of 29!  Normal is between 2 and 6!

I remember sitting in that room at the genetics clinic and just crying my eyes out in fear, not knowing what this meant, and upset that something was wrong with my "perfect" baby boy!  Now I know it is "ok".  It is manageable, and we will manage.  You can read more about this story in my first post, The Beginning...

The Diet

I have found that up to this point in Carson's life, managing the diet has been extremely...easy!  Carson is a picky eater, and although it may sound like a bad thing, it makes it easy because we know exactly what he will eat and it is mostly good, healthy stuff.  I just wish I could get him to eat more of a variety.  Hopefully, that will happen as he gets older.  He will usually at least taste of things I offer him, but nothing new has gotten his attention in a long time.  Yes, it is work baking bread every week or two, and his favorite chocolate chip cookies, and cooking him a separate meal almost every night, but now we are used to it.  As long as we have a plan when we go out, we always manage.  We are very blessed in this area.  AND, as all the professionals and literature advise, it is good to get them to "help" you cook too!

Baking can be hard work!

Most of the "work" involved in the diet, other than cooking, is calculating the amount of phe in everything he eats.  Again, because he eats the same thing all the time, it is so simple for us, because right now I have it all memorized.  It is SO important to keep a food diary, or food log or journal, whatever you want to call it.  We have the Low Protein Food List for PKU, which is our "food bible", that tells the amount of phe in most any food you can imagine, plus a network for finding out phe in other foods that might not be on the list.  Every day we write down what he ate and how much, then figure the amount of phe and add it up to reach his prescribed daily amount.  Carson's current allowance is 325mg phe per day.  He usually stays under that, and rarely goes over.  If he eats something high, like when we go out and eat Mexican food and Carson has rice, we just give him a lower phe supper to balance it out.  Of course, there are always days when he might go over.  It has never been a problem so far.  His levels have only been high when he was sick or teething, and once when we boosted it a little too much.

The most important thing in Carson's, or any PKUer's diet, is the formula.  There are SO many different brands and forms of it out there now.  Carson is currently drinking Phenex-2, and we have had no problems with this so far.  He still drinks it 3 times a day, and always asks for it.  I am so thankful.  That formula provides him all the protein and most other nutrients he needs, but it's modified so that it doesn't contain any phe.  Without this formula, Carson would be malnourished and could not survive.

I have always known exactly what kind and how much food to feed Carson, and that made it so much simpler.  Now with Maggie, she does NOT have PKU, so I am having a hard time feeding her!  I don't know how much she should eat, or what she should and should not eat, even if I read about it.  I just wish she had a nutritionist to tell me how to feed her!  I need instructions with this one!

The Food

Carson's low protein foods that I currently order from Cambrooke are:  MixQuick to make his pancakes and cookies (I use the Butterscotch Chip Cookie recipe from their website and substitute 1/2 cup Chocolate Dream non-dairy chocolate chips, which I buy at our local Whole Foods store),  Wheat Starch for his bread recipe, Mini Pizza Pockets, their imitation "sticky" rice, Shake n' Cheese (to make his mac and cheese), and cheese slices for sandwiches.

We like the Loprofin pastas from Nutricia North America the best.  I started out with and still use the fusilli (spirals) most of all.  They cook well and are easy to pick up.  They are also slightly lower in phe than some of the others.  I use their macaroni noodles to make the mac and cheese.  I also get Wel-plan baking mix, which is one main ingredient of the biggest staple in Carson's diet right now: BREAD!

There are so many options for low protein foods out there now, and there are many that we haven't even tried.  I ordered several samples from PKU Perspectives, the Country Sunrise Sampler, but haven't had time yet to try any of them.  We also use Maddy's baking mixes quite a bit for cupcakes, muffins, and brownies.  I think he's starting to get tired of those, so we may have to try something different.  For a good list of food companies, go to PKU News and click on Diet Related Information.

Most of the other things Carson eats we buy at our local Wal-Mart super store (that's where I buy most of our household groceries).  We are so fortunate that Carson loves broccoli, and he also loves Birds Eye Garlic Seasoned Cauliflower in the steamable bag.  Carson's breakfast of choice is Chocolate Cheerios.  He eats bananas, and I buy Mott's Healthy Harvest applesauces that have different fruits in them, like strawberry and blueberry.  Our Wal-Mart also carries Biscoff spread, a yummy (but with no nutritional value) peanut butter alternative, which is a huge hit with Carson right now!

All you need are a couple of good cookbooks, access to the internet for more recipes, and a lot of patience!

The Blood Tests

Another important part of managing PKU is monitoring blood phe levels.  Currently, we check Carson's level about every 2 weeks.  We stick his finger at home with Unistik 3 lancets, put the blood drops in the circles on the special lab paper, and mail it to the lab at Alabama Department of Public Health in Montgomery (the state lab where all newborn screenings in the state are sent).  Yes, we use the same paper that is used at the hospitals for all newborn babies in Alabama.  Our Biochemical Genetics clinic, which is at UAB (University of Alabama at Birmingham) provides us with these forms.  The state lab processes the blood, and because our paper is specially marked for Diet Control, they call the clinic with the results.  In turn, the nutritionist at the clinic calls me to relay those results.  Carson's most recent blood phe level was 2.8, on a normal scale of 2-6, which is great!  He had run over 6 a few times due to having a cold.  Every time Carson gets sick, and when he was cutting teeth, his level always runs high.  To control this, we do what is called a "washout", where we give him as little phe as possible for the prescribed number of days, according to our dietician's recommendations.  This means, for Carson, NO Chocolate Cheerios!  And lots of low protein foods.  As long as we monitor his levels and keep them in the normal range as much as possible, Carson should have no brain damage from too much phe in his system.  Right now, he does very well.  What the future holds, we don't know.