PKU Awareness for Rare Disease Day: How We Survive the Holidays...and Every Day

Today is a rare day...it is Leap Day!  It is also Rare Disease Day.  While PKU is not really a "disease", but rather a genetic "disorder",  I like to try to take every opportunity to raise awareness and remind everyone in our lives, and share with those abroad, what it is like to live with PKU.  Today I want to share another glimpse into daily life at our house and how it impacts our holidays.

PKU (phenylketonuria) is NOT a disease, but a genetic malfunction of a liver enzyme that breaks down the protein amino acid phenylalanine ("phe" for short).  It requires a medically prescribed and regulated low protein diet (not just a "special" diet) for LIFE, to ensure no damage is done to the brain and body by toxic phe levels.  A person with treated and well-managed PKU displays virtually NO symptoms.  There is no visible evidence of PKU by just looking at a person.  It is only discovered shortly after birth by the Newborn Screening process, which is the heel prick done to all children born in the U.S.  The most widely used treatment is the low protein diet coupled with a medical formula that is specially manufactured to provide all necessary protein without the phe.  For more information about PKU, follow links on this blog and feel free to browse past posts.

In the Rice household, we have 2 pretty special PKUers, Carson, who is now 6, and Allison, who will

be 2 in June.  Almost-4-year-old sister Maggie is our only non-PKUer.  Every day is an adventure! People ask me questions all the time like, "How do you do it?", "What do they eat?"  "Where do you buy their food?" or "Will they outgrow it?"  We especially get the most questions around the holidays, when we see family and friends we aren't around as much throughout the year.  Those who are part of our everyday lives are already versed in PKU lingo and the diet requirements, and are almost as adept as we are at knowing the ins and outs of dietary management.  But those who aren't around or in contact on a daily basis perceive it more as a mystery, and are either mildly curious or view it as too complicated to get involved.   And to be honest, I do get tired of explaining it to people sometimes, which is one reason I refer to my blog!

Since my kiddos are still very young, we have absolute control over what they eat.  I do try to match low protein foods to what the rest of us are eating, just to make an effort to show inclusion for my PKUers.  Carson does, on rare occasion, ask about our regular foods, mostly out of curiosity.  I always make sure he knows that if there is ever a food he is curious to try (that he otherwise could not have), I will do my best to find a low protein version to make or buy for him to try.  The same will go for Allison, who I presume will show more curiosity and desire to try other foods compared to the routine-driven Carson, who, partly due to autism, would be content eating the same thing every day for long periods of time.  For example, when I make pasta dishes, I always use sauces that are low enough in protein per serving to fit their diet prescriptions.  I use Ragu traditional spaghetti sauce, pesto, a homemade stir-fry sauce, and homemade stroganoff, all without meat, of course.  We have lopro pastas that I boil separately for them and just add the same sauce to their own pastas.  I order these pastas online from a lopro food manufacturer.  At this time, we prefer Nutricia's Loprofin noodles.  Carson likes spaghetti noodles and spirals, while Allison likes animal shaped pasta and macaroni.  Paired with a veggie or two, this is a very common supper at our house.  If I make a sauce that is too high, like mac and cheese, they do have their own powder I can mix with non-dairy milk or creamer to make a lopro mac and cheese.  Right now, Carson doesn't like it anymore, but Allison will eat it.  Most of the time, if we have something too high in protein for the PKUers, and it is something they don't like the lopro version of, they are happy just eating one of their favorites, usually pesto!

We also have a few "convenience" foods.  I can purchase ready-made foods from private companies also, such as Cambrooke Foods.  They have mini pizza pockets and toasted pierogies (like potato and cheese filled ravioli) that the kids like.  These things are specially made low protein and we just pop them in the oven.  Other quick lopro foods we use are sandwiches, although I make the bread myself in a bread machine using special lopro ingredients, and powdered mixes to make things such as pancakes, eggs, and hot dogs.  The rest of the food in their diet consists of things we can buy locally.  They eat certain dry cereals for breakfast, fruits, veggies, potato chips, tater tots, and a small selection of gluten-free foods that are appropriately low enough in protein, such as pretzels and some cookies.

I suppose most people want to know how we handle meal time when we are outside of the home.  We are a very on-the-go bunch, usually eating out 3-4 times a week.  I find it much easier and refreshing that I don't have to cook them something!  However, some of the leg work I have done ahead of time.  At most sit-down restaurants, I bring them their own lopro rolls that I bake ahead and keep in the freezer.  I just pop one in a baggie and take it in one of their cooler bags we bring everywhere with their medical formula and other snack foods.  I also bring them applesauce as a filler.  Usually, they will eat items from the menu such as broccoli and French fries.  Allison will eat more of a variety of vegetables, such as green beans, carrots, and sometimes zucchini.  Carson loves spaghetti squash, which we find at Ruby Tuesday.   And don't forget the salad!  Carson loves to get the salad bar and make his own salad with lettuce, cucumbers, and carrots.  They can have oil or vinegar-based dressings, Italian being his favorite. They also eat rice and tortilla chips at Mexican restaurants, but these are higher in phe and we try to do less often.  Everything they eat is in measured amounts, which I have to portion out for them, and I have done it long enough I can just estimate without having to measure or weigh on a gram scale.  As you can see, there are options, though not a wide variety, it is still enough to fill them up with the few extras we bring along.

When we visit someone's house, I always just bring their food with us.  I try to ask ahead of time what food will be available, and determine if there is anything there they can and will eat, and then just fix our own to take with us.  Most friends and family we visit are used to this by now.  Grandparents keep food on hand that they can use to prepare meals for them if needed during a visit.  Holidays, we usually have the same foods and I can cook something ahead of time to bring, or do it when I get there.  Needless to say, we carry a ton of baggage around when we travel!

Last, but not least, for special occasions, holidays, birthdays, etc., I keep lopro cupcakes baked and stored in the freezer.  When called for, I just get them out, place in our little plastic cupcake carrier, and decorate accordingly.  They can use just about any kind of icing, so that makes decorating easy and makes it look the same as everyone else's.  If something is served other than cake, we have other baked goods we can bring as well, such as cookies or brownies.  I bake these items using special lopro mixes as well.  I try to keep cookies or brownies made all the time so they will always have a treat.

Here are some examples of foods we have eaten lately:

A low protein trail mix for Allison, made with Rice Chex, gluten-free pretzel sticks, raisins, and mini marshmallows.

It's a big hit with baby girl!

Which one is the low protein version pancakes and eggs?

Cambrooke's Instant Chicken Noodle Soup

Not bad!  He didn't finish it, but it will hopefully grow on them.  It was really good!

Lopro taco made with Ortega corn shell, salsa, lettuce, carrots, and imitation cheddar shreds.  Delicious!  And all store-bought items!