Our Life with PKU

We knew that Baby River was special the moment he entered our lives, but we didn’t know he was extra special until he was six days old. That is the day when we got the call that his newborn screening test came back positive for PKU. Coincidentally, that is exactly how old my now 15-year old nephew Evan was when we got the call that his PKU test came back positive. Talk about déjà vu…

It felt like the earth shook fifteen years ago when my sister got that scary phone call. Evan went into OHSU, our local research hospital, immediately for further testing. We frantically scanned literature on PKU, read the words “mental retardation” and ours heads began to spin. But in the coming days, weeks and months, we learned that Evan wouldn’t become mentally retarded. Instead he would have a normal IQ, development and life span as long as he stuck with a special diet for life.

PKU is short for Phenylketonuria, which is a metabolic disorder that prevents protein from breaking down in the body correctly (to put it simply). You can read more about it on the National PKU site. The excess of that unprocessed protein, called phenylalanine, is toxic to the brain and builds up in people with PKU if left untreated. The special diet restricts the amount of protein they consume to levels safe for their bodies. They get all of the protein they need in an already-broken-down-form that their body can use through a special formula drink.

About 1 in 15,000 babies are born with PKU and both parents need to carry the recessive gene for it. Since it’s recessive, that means you don’t have PKU but it lingers there in your massive gene pool. There is no test to determine if you carry that recessive gene, but I assumed I carried it since my sister does. Turns out Jay does as well, which means we have a 25% chance to have a PKU baby together.

What does this mean for Baby River? It means we alternate between breastmilk and his low-protein formula to keep his PHE levels low. We do weekly blood tests by pricking his heel and sending them off to a state lab to ensure his PHE levels stay in a safe range. He’ll be able to eat unlimited fruits, lots of vegetables, but no high-protein foods like dairy, beans and meat. It means he’ll be the kid at the birthday party who brings his own cupcake, but he’ll be an otherwise normal kid.

We were sad when we learned River has PKU, but we were not devastated. This is a very treatable disorder that allows him to have an otherwise normal life. He’ll get to do all the stuff we have dreamed he will do: climb trees, run around with friends, ride a bike, travel, explore and learn about the natural world. I am so thankful I get to nurse him still and have that sweet bonding time. A very grateful family in town is getting coolers full of excess breastmilk from me that River doesn’t need, but their baby does need.

My sister formed a local non-profit organization called Northwest PKU Alliance about a decade ago that organizes an annual PKU Family Camp every August. It’s here in Oregon, but folks travel from around North America for it. I sat on the board for eight years and was in charge of planning the menu for the weekend and getting donations. One year our PKU cook backed out at the last minute and I stepped up to cook all the meals for the PKU campers. I’m no PKU expert, but I know more than the average Joe by a long stretch.

It’s a funny thing to feel unfortunate and overwhelmingly fortunate at the same time. It’s unfortunate that we both ended up carrying that recessive gene. But we feel immensely fortunate that this beautiful soul joined our family – a family that already has a good base of how to cook low-protein food; a family that already grows so many fruits and veggies in our own backyard; a family that can embrace PKU as something that makes him unique rather than a hang up.

River won’t be eating food for many more months, but when he does I would expect the recipes on this blog to shift a bit. You might see me reference how I make a given recipe, then modify it to be low-protein for River. It’s a subtle change that will likely go unnoticed by most of my readers, but maybe 1 in 15,000 of my readers will appreciate that adaptation.

And maybe 1 in 15,000 readers will have recently gotten a similar phone call when their baby was six days old and take comfort seeing pictures of River playing in our garden, hiking on a family camping trip or eating some of our homegrown produce – just like any other kid. And they’ll be able to see that life with PKU won’t define their child’s life. It will just mean their baby is also extra special.