My son Eli does not eat meat. He also does not eat dairy, bread, or pasta. He lives on a diet of 7 grams of protein a day. I’m glancing over at my bag of Doritos as I write this and it has 4 grams of protein. The Diet Red Bull next to it has about 1 gram. So just with this snack I’ve consumed 70% of Eli’s total protein intake for the day!
You see, at birth Eli was diagnosed with a rare genetic disorder called Phenylketonuria (PKU). An enzyme in his liver does not properly break down an amino acid in protein (phenylalanine aka phe). In an untreated PKU patient that Phe builds up and becomes toxic to the brain causing severe developmental disabilities, seizures, and in some cases patients become institutionalized.
Pretty scary stuff right? Well here’s the silver lining of the whole situation. PKU is completely treatable and none of those bad things will happen as long Eli maintains that diet of 7 grams of protein a day. It seems easy enough, however we count almost everything Eli consumes in an app on our phone. Think about that for a second. Imagine having to journal everything you eat and also give it a Phe value all to add up to those 7 grams of protein a day. I thank my math teachers everyday for the skills they gave me.
And then since he can’t have bread or pasta, we have to purchase specialty breads and pastas. Gluten free items are great and there are also medical grade breads, pastas, and cookies (he can’t have flour) we can purchase. None of those medical foods are covered by our insurance here in Ohio (that’s a whole different conversation for another time).
On top of all of that Eli must have a formula 4 times a day to get all those nutrients he’s missing from not having protein, and he must also get monthly blood draws to make sure he’s Phe levels are in a safe range.
OK that’s a lot when I write it out like that.
I don’t want this to come across like a giant complain fest. Because I count my blessings everyday that Eli doesn’t have something worse. There are plenty of parents out there that deal with much more then my wife and I do everyday. Plus we’ve got a great team at UH Rainbow here in Cleveland that attend to Eli’s every need, give us a plethora or knowledge about PKU, and have even introduced us to some great PKU families and events. (More on Rainbow in a second)
The whole reason for this blog post is that today, December 3rd, is National PKU Awareness day. Here are some statistics on the likely hood of getting and carrying the PKU gene:
I think the question we get asked most is will Eli grow out of it. Although the chance of long term brain damage does reduce when his brain stops growing around 8, PKU is for life. It’s in his DNA. The reason you have the hair color you have is the same reason Eli has PKU, luck of the draw. However no one will ever notice a physical difference in Eli or any PKU patient for that matter, unless you look at his lunch box.
Here’s a great video about a girl who’s older than Eli and lives with PKU:
The National PKU Alliance is helping spread PKU awareness today by challenging everyone with the 48 hour Phe Challenge. For 2 days you see if you can follow a low protein diet like Eli’s. (Remember that’s 7 grams a day) Good Luck
I can’t express how grateful we are as a family to have our Geneticist Dr Bedoyan, Nutritionist Heidi, and all the staff at UH Rainbow. We’ll all be at the Rainbow Radiothon this Friday (Dec 4th) and I’ll be sharing Eli’s story at 11:30a. I look forward to sharing our story and gratitude on the air, and if you’d like to donate you can do so here.