PKU Awareness || Disorder NOT Disease

PKU Awareness || Disorder NOT Disease

Gluten Free
Dairy Free
Peanut Free

These are just a FEW of the dietary needs among people today. But what a world we live in! Especially here in the United States, which accommodates hundreds of eating habits, trends, and needs!

Prior to our adoption, I was not familiar with very many inherited metabolic disorders. I had heard of PKU, which stands for Phenylketonuria, but we'll stick with the acronym because that is WAY easier to pronounce. Although, I've got quite good at saying it. Haha! Anyhow, I had heard of PKU only because our daughter was born in a hospital and they ran what they call a PKU test, which checks for hundreds of metabolic disorders with a simple blood test. But other than that, I was not familiar with it at all!

Before I move on, let me state that PKU and any other inherited metabolic disorders are NOT diseases. Health Writers Hub defines a disease as a pathophysiological response to internal or external factors. A disorder is a disruption to regular bodily structure and function. For those who inherit a metabolic disorder, both parents have to carry the gene which causes the disruption in regular bodily function and they are more at risk of passing that gene onto the unborn baby. 

WebMD defines an inherited metabolic disorder genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely.

Okay, so WHAT exactly is PKU? 

The University of Washington PKU Clinic best explains it: "PKU stands for Phenylketonuria (PHE-NYL-KE-TON-URIA). Phenylketonuria (amino acid) is an inherited disorder. About one in every 15,000 infants born in the United States has PKU. People who are born with PKU are normal in every way except to stay healthy they must follow a strict diet which limits phenylalanine (Phe for short), a common part of most food. People with PKU have an inactive liver enzyme. Phe is only one of the many amino acids which are joined together to form proteins. Normally, when a person eats foods containing protein, their body uses the amino acids from that protein for growth and repair of body tissues. Often we eat amino acids in excess of the body's needs. These excess amino acids are chemically changed by enzymes into other compounds or used for energy. Since individuals with PKU are missing the enzyme for normal phe break down, the excess eaten in foods accumulates in the blood and begins to damage the brain.

If blood phe levels stay too high for a long time, the damage to the developing brain is severe and irreversible. The harmful effects of PKU can be prevented if a diet low in phe is started in early infancy and maintained throughout life."

Here is a short video created for kids that also helps explain it.

To simplify it even more, someone with PKU sticks to a Low Protein, Dairy Free, Gluten Free, Vegan Diet.

I know what you are thinking, OH MY GOSH! WHAT DO THEY EVEN EAT?!?!?! How do they get their protein, vitamins, minerals etc to live?! Don't worry, I thought the same thing too at first. I couldn't quite wrap my mind around HOW someone with PKU even survived or didn't look sickly all the time.

But you would be shocked. In fact, I bet you know someone with PKU and don't even know it. It isn't an outward visual disorder. It is an internal digestive disorder. Just like your friends who don't eat gluten, or dairy, or are vegetarians or vegans. It doesn't make them any less human.

So back to the original question, WHERE do they receive protein to survive? People who have inherited PKU receive their daily protein intake from a special protein powder (i.e. formula). This is a protein formula that they should drink daily - for life. It is a complete dietary food. This formula IS their protein without the damaging amino acid that can cause permanent brain damage. All other fruits, vegetables, and low protein gluten free products are icing on the cake as additional calories and fats. I will say, this metabolic protein formula is CRITICAL for survival and to keep the brain and body healthy for those with PKU. But that is for a different post at another time...

With most disorders/diseases, the severity can very. For example, you may have a friend that is gluten intolerant. Gluten might make them feel "yucky" and they avoid it. Where as, someone with celiac cannot even have a crumb of gluten in fear of going into anaphylactic shock. For those with PKU, their severity varies. One person may be able to tolerate more Phe in their diet vs others. And at birth, this severity is typically determined with the blood test that shows how much Phe the body is not processing. 

So how does one regulate their Phe intake? By measuring and weighing all foods and documenting them. Everyday, I weigh out Tristan's food and document them on an AMAZING website called How Much Phe. By working with our Dietitian at one of the Nations leading PKU Clinics at the University of Washington, our dietitian determines how much Phe Tristan can receive through other foods on a daily basis and also monitors his Phe levels with a simple blood test that we do about once a month.

When we first said YES to adoption and YES to adopting a child with a special need and then YES to a child with PKU, I was a tad overwhelmed. (Read our journey to our yes HERE) It seems like a difficult diet to manage, but more and more I am learning that it in fact is not. It is a simple one to manage and there are SO many amazing resources that have helped make this once complicated disorder so manageable.

One of my favorite websites is Cooking for Love. It is essentially an "All Recipes" website for those with PKU. I can go on there and look up SO many ideas for meals and "look alike" items for my son to eat. The resources families have now for those with PKU are INCREDIBLE. Even 20-30 years ago families has to figure it out and wing-it.

The NUMBER ONE thing I want people to remember for those who have PKU is to not wear a "sad face" because they can't eat meat or other high protein items. I do not wear a sad face for someone who is a vegan or vegetarian or cannot have dairy or gluten. Or someone who can't or doesn't eat red meat, or my Jewish friends who do not eat pork. It doesn't make them any less human. And honestly, we worship food WAY too much. Yes, would life be much simpler if we could eat ANYTHING and EVERYTHING without any issues or restrictions? Of course! But I am BEYOND GRATEFUL to live in an era where so many foods and diets are available to SO many with different needs, desires, and/or restrictions. Not to mention, I am SOOOOOOO grateful for the PKU Community and the people I have had a chance to meet, talk with, and connect with who have or have family members with PKU.

God is SO good and has brought us on an incredible journey of adoption and showing us that HE PROVIDES!

Check out this final video of what an 11th Grader in Vancouver B.C. created and is working on to help better the lives for those with PKU! There could very well be a cure for PKU in Tristan's lifetime, and I am excited to see how God uses him in this journey!

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