10/10/2025
🌿 PKU: A Rare Diagnosis with a Universal Story 🌿
I want to take you back for a moment…
Imagine holding your newborn baby for the first time. You’re tired, overwhelmed, and yet filled with joy. A few days later, the phone rings — and everything changes.
“Your baby has tested positive for PKU. You’ll need to meet with a metabolic team right away.”
As they begin explaining the complications that come with this disorder and the life changes that will need to be made, your world starts to feel like it’s crumbling beneath you.
That was me. Four times.
Four of my six children were diagnosed with Phenylketonuria (PKU) — a rare genetic metabolic disorder that affects how the body processes phenylalanine, an amino acid found in protein.
Overnight, I became not just a mom, but a lab tech, nutritionist, researcher, and fierce advocate. For the past two decades, I’ve lived inside the PKU world—following the traditional protocols while also watching my children grow and face challenges that extended far beyond what their lab numbers could explain.
This journey ultimately led me back to what I do today as a Certified Functional Nutrition Practitioner and RBTI Analysis Specialist, and it’s the foundation for the research and work I’m doing now.
You might be wondering why this matters if you don’t live with PKU.
Here’s why: PKU offers a powerful lens into how the human body functions when even one pathway is disrupted. Through PKU, we see what happens when detoxification is stressed, when nutrient absorption shifts, and when the nervous system is under chronic biochemical pressure.
These are themes every family, clinician, and wellness practitioner encounters—hormone imbalances, emotional dysregulation, digestive disruption, bone health concerns, weight challenges, inflammation.
My current research focuses on how RBTI testing—a simple urine and saliva analysis—can give us real-time insight into hydration, mineral balance, digestion, detox, and nervous system stress in PKUers.
We’re finding meaningful patterns that help explain emotional shifts, hormone changes, bone health issues, and more—and the applications reach far beyond PKU.
This week, I had the honor of sharing this work with the University of Alabama Nursing Research Society, bridging lived experience, functional research, and practical tools to shape the next generation of care.
PKU may be rare, but the lessons it offers are universal.
Here are a few pictures of my little PKUers 💚. Living with a metabolic disorder has its challenges, but I wouldn’t trade them for anything in the world.
✨ Ready to Learn More About Your Body?
If you’re curious about what’s happening beneath the surface of your health, I’d love to invite you to a free 15-minute Discovery Call.
You’ll learn how much your urine can reveal about your body’s trajectory—where your health is heading, not just where you are right now.
Blood tests show your current state.
Urine shows the direction your body is moving in.
And that can change everything. 🚀
👉 Click here to book your free Discovery Call and find out if this simple testing could help you gain clarity, direction, and a personalized plan for your wellness journey.
app.malla.co/join/elev8yourhealth
