Phenylketonuria

Hmmm… I just noticed something odd today.  In all the 200+ blogs I have done, I don’t seem to have written one about PKU.  I won’t bother to dig in to the psychological looking glass and will instead rectify that situation.  For you see, my son has PKU which is short for Phenylketonuria (Fee Nil Kee Toe Nur eeyah).  As you all hysterically attempt to mouth that, just remember PKU, it’s much easier.

PKU is a genetically inherited metabolic condition affecting 1 in 100,000 births that inhibits the bodies processing of the amino acid phenylalanine.  If left untreated, the resulting build up of this amino acid becomes a chronic neurotoxin affecting brain development and motor function.

Did I lose you yet?  I got lost at about the second syllable the first time I heard it when Chandler was only 2 days old.  I’ll give you the short form.  Chandler can’t eat anything that we don’t look at first.  That’s the impact statement.  Of course it is more complex than that for us, but that’s what it means to most of the world.

PKU is genetic—it doesn’t go away and has no cure.  It basically means Chandler has an abnormal liver.  But the good news is that while he stays on a well controlled diet he is absolutely normal—nothing odd about him.  He reads great.  He plays video games.  He rides a bike and plays with legos—all the normal things kids do.  If doesn’t stay on diet, then over the course of several months to years the acid build up in his blood will attack nerve tissue and slowly wear away at his brain.  I suppose you could compare this to severe long term drug use.  It was especially bad for developing children prior to its discovery.  This resulted in what was then called mental retardation.

Yeah that scared the hell out of me too.  Again… we know how to 100% treat PKU today.  Quite simply you just absolutely control the amount of protein he eats.  Thus you prevent ever having toxic levels and all is good and normal.  There are a number of specialty medical foods made for folks with PKU to eat.  Mostly they get all their real nutrition from a formula like a protein shake—only with just the right amount of phenylalanine in it.  If you are pretty hip on your nutrition you’ll know that everybody has to have “full proteins” in their diet so Chandler has to get a bit of phe (what all the parents of PKU kids call it)—just not too much.  This amount is measured in milligrams… :-/  So Chandler can have 350 mg of phe each day.  That is about ¼ of one paperclips worth. 

Needless to say, the diet is quite highly monitored.  We measure everything on a gram scale.  But this has turned out to be so easy that I often barely register it any more.  It’s the same as measuring out cups or tablespoons… just happens to be 500 g of this or 30 g of that.  Cooking by weight is pretty darn easy.

All children in the US are tested for PKU at birth.  It is part of the tests they run as part of that heel stick you kid had to endure in the hospital.  They test for it early because PKU is so easy to treat early and so detrimental to a growing kid.  It may surprise you to know that there are about 25 other metabolic conditions (many that cause death) that hospitals do NOT test for.  The kit to test for these costs about $20.  Many deaths attributed to SIDS are now thought to be undiagnosed metabolic disorders.  Not to hard to imagine if think of something like a severe peanut allergy.  How do you know your infant is allergic to a peanut? What if the little bugger gummed up a crumb of nut while you weren’t looking? I am not trying to make anyone paranoid just showing an example of how something undiagnosed can sneak up on you and be a mystery.

PKU is more common in Irish populations or other Northern European descendents.  It is well understood in Europe and North America.  It seems to be well understood in New Zealand as well.  I am still in the process of researching it in hopes Chandler will get to visit here some day.

Obviously, PKU became a very huge part of my life at the same time Chandler became part of mine.  But after the first year the treatment (diet) became so routine that I barely think of it as unusual now.  It seems very normal to me.  It is still a big deal.  Something we always have to think about and plan for.  It has hidden in it worrisome issues about insurance and long term outlook.  The specialty food is very expensive (so is the formula).  But the condition is so rare that many insurance companies won’t cover it.  They often reject our claims forcing us to petition them and fight for coverage.  So far we have been pretty lucky.  But it sure is hard some days. 

It may never be an issue, but in the back of my mind I have considered that NZ (with national health care) may be a safe haven for Chandler if medical coverage in the US collapses.  I don’t know if that could happen, but I like to think of it as a safety net.  It would be better if PKU could simply be covered like all medical care should be.  I don’t know why I have to fight to convince my health insurance company so that my son who needs health care should be covered.  What do I pay taxes for? What did I pay premiums for? Why are other liver conditions treated, but his not?  Why are multi-thousand dollar prescriptions for impotence covered, but not his formula?  I could go on and on, but the ludicrousness of the situation has no answer.  There is only my son, Chandler, his mother, and me, his dad, trying to provide all that he needs.  I am lucky enough to have a lot of support from my wife and family.  Still I'm angry at the system.  It isn't right.