Supporting PKU Awareness: A Journey of Resilience

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About Phenylketonuria (PKU) 

Phenylketonuria (PKU) is a rare but potentially serious inherited metabolic disorder. Here’s what you need to know:

  • What is PKU? Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the “building blocks” of protein. These amino acids are then used to make our own proteins. However, people with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. This accumulation can lead to brain damage.
  • Symptoms: If left untreated, PKU can damage the brain and nervous system, resulting in learning disabilities, behavioural difficulties, and other health challenges.
  • Treatment: Early diagnosis is crucial. Treatment involves a low-protein diet, controlled intake of specific foods, and regular blood tests to monitor phenylalanine levels. With proper management, most individuals with PKU can lead healthy lives.

Our Journey

Meet My Fiancée Harriet

My incredible fiancée, Harriet, faces PKU head-on every day. Despite the challenges, she remains resilient, determined, and full of love. An average day for Harriet would start with her having to take 14 tablets before breakfast of a drug known as KUVAN ® (sapropterin dihydrochloride) – This is something that was fairly recently discovered and is used to help sufferers of PKU consume more protein. After the tablets, Harriet is then required to have supplements 3 times a day to help her get all the nutrients she cant get from eating protein. And to put in perspective just how challenging it can be, Harriet is usually only allowed 4g of protein everyday – 1 pack of Ready salted crisps is 1.5g-2.0g of protein. So there is no room for error with measuring meals, through weight and quantity.

Then even with all she already has to do, she is also required every 2 weeks to submit blood tests to the dietitian so they can analyse her levels to check they are not too high. This is circumstantial, if she wanted to try for a baby, this changes to 2-3 times a week, rather than every fortnight.

It is not always easy for her to manage and we get lots of help from our families, however some people are not so lucky and either don’t get enough support or find out too late and irreversible damage has already been done.

Why We’re Raising Funds

We’re on a mission to raise awareness about PKU and support others facing similar battles. The National Society for Phenylketonuria (NSPKU) has been a lifeline for us. NSPKU, founded in 1973, is the national charity for people living with PKU in the UK. They provide vital information, advocacy, and community support.

How You Can Help

By donating to our JustGiving page, you’re contributing to:

  1. PKU Advocacy: Supporting NSPKU’s efforts to raise awareness, improve treatments, and advocate for those affected by PKU.
  2. Research: Funding research that aims to enhance the lives of PKU patients and find better solutions.
  3. Community: Creating a supportive network for individuals and families navigating the challenges of PKU.

Join Us!

Let’s stand together and make a difference. Your contribution matters more than you know. Click here to visit our JustGiving page and be part of our journey.

Thank you for your kindness and support!

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