PKU Awareness Month is a time to reflect on why advocacy matters.
I wrote this manifesto because it’s something I believe with all my heart.
In the coming months, I will write more about what this means to me — and why I wrote it.
But for now, I will simply say this:
Everyone matters.
And when we speak, we speak not just for ourselves, but for an entire global community.
Why We Fight: A Manifesto for PKU Awareness
We share a common story
The story of a changed generation
A generation that became a community
A community full of love
And grit
Determined to make life better
Better for ourselves
Better for those we love
Better for everyone
Because in this community
Everyone matters
Every voice matters
Every story matters
Every person matters
In this community
Everyone belongs
And everyone has a seat at the table
Because PKU has no borders
We are one global community
And we are all in this together
A Vision Built Over Time
This is the culmination of everything I’ve learned in my advocacy journey since 2012. Something that’s been building over time. I wrote it in my journal recently and felt like it was something to share with the PKU community.
These ideas have been part of my work. Because they are central to how I view the world. Advocacy is about fighting for the dignity of humanity.
I fight for dignity
for the right
of every human being
to be seen
to be protected
and to be given a chance
at life.
Resources for PKU Awareness
Over the years, I’ve produced a lot of material for PKU awareness. I’ve organized some of it below. These are articles, podcast episodes, and videos that I hope will help you in your journey. And perhaps they are resources you can share with others for PKU Awareness Month in May, International PKU Day on June 28th, Newborn Screening Awareness Month in September, or National PKU Awareness Day on December 3rd.
Or… Any other day of the year. Because PKU follows us every day of our lives.
My PKU Life
My PKU Life was the beginning of my advocacy journey. I produced it in late 2011, and beginning in early 2012 I began traveling the world, sharing my story and producing other media about PKU.
I keep sharing this story for one reason—to encourage you to share yours. I never imagined that my story would reach as many people as it has. And your story can have a greater impact than you can ever imagine. You don’t have to broadcast it or share it on social media. Even if you just sit down with a friend in a coffee shop and share your experiences, it matters. Because you matter.
A quick note about the organization I serve… I mentioned the National PKU Alliance (NPKUA) at the end of this video. At the time, I had no association with them. But I had heard of them and wanted to direct viewers to a non-profit organization dedicated to our community. Since then, NPKUA has become an invaluable partner in my advocacy. I have traveled across the United States on their behalf, producing videos about PKU and sharing my story.
Wherever you are in the world, find an organization that represents your core values, lock arms with them, and dare to change the world together. NPKUA has been that organization for me, and I am incredibly grateful.
Regaining Hope: My Journey to Rare Disease Advocacy
PKU, newborn screening, and rare disease advocacy has been a huge part of my life since my advocacy journey began. But in 2022, I began exploring the relationship between mental health and my rare disease life. A key idea from this story—we can’t separate what is going on in the rest of our lives from our rare disease experience. It is all connected.
“Regaining Hope: My Journey to Rare Disease Advocacy” was the first episode of “Never Give Up: A Rare Disease Podcast”. I’m no longer producing it, but that show contains 32 episodes—all stories about the intersection of life, rare disease, and mental health.
“For Katy”: A Story About Newborn Screening
Newborn screening is a human right. It saves lives. This film, “For Katy” tells the story of a girl born with PKU who did not receive newborn screening at birth. We share the same diagnosis, but have different lives. As long as one child falls through the cracks in the newborn screening—a system that has saved lives but needs constantly improving—we need to keep fighting, speaking, and showing up for those who need help the most.
Finding Your Rare Disease Community
This episode of Never Give Up: A Rare Disease Podcast was recorded on location at the 2023 European Society for PKU and Allied Disorders Treated as Phenylketonuria (ESPKU) Conference in Birmingham, UK. I interviewed 26 people over the weekend—voices from the PKU community around the world. It was here, at this conference, that I first wrote this in my journal: PKU has no borders. We are one global community. And we are all in this together.
A quick word about ESPKU. They have been my advocacy partners in the international PKU community, and I regularly attend their conferences. I am especially grateful for their assistance with fact-checking the story below…
A Story From PKU History – “When Are You Going to Treat My Child?”
This is the story of the development of the initial treatment for PKU. It’s the story of Mary and Sheila Jones. It’s set in the 1950’s, and it is about a mother’s dedication to her late-diagnosed child. Both of them became early pioneers for PKU and rare disease advocacy.
Passionate and dedicated rare disease advocacy for the present and future must be grounded in thankfulness and gratitude for our past.
This story isn’t just about PKU. It’s about the early days of rare disease advocacy, a story relevant to the 400 million people living on earth affected by rare disease.
Special thanks to Professor Anne Green, author of the book “Sheila: Unlocking The Treatment for PKU”, as well as Birmingham Children’s Hospital Charity for permission to tell this story and for assistance with the script.
“Call Me Bob”: A Story About Dr. Robert Guthrie
Dr. Robert Guthrie is considered the “father of newborn screening”. His groundbreaking work in developing the bloodspot test for newborn screening has saved countless lives and continues to impact the world today. But this story is about the person behind the legend. It’s about a passionate, dedicated person who made choices that changed the world.
Newborn Screening is a Human Right
Newborn screening is a human right. It respects and honors the dignity of every human being by preventing disability or death. And dignity is the birthright of every human.
In the newborn screening advocacy community, we frequently say “Newborn Screening Saves Lives”. And it does. I’ve used that phrase countless times. And I will continue doing so, but that is only one side of the equation.
Because not every child is saved.
Not every child born in the world receives newborn screening. And even with those that do, many do not receive a diagnosis because their rare disease is not on the screening panel.
So, I am also choosing to say “Newborn Screening Is A Human Right”, because that reminds us of the work that still needs to be done.
Newborn screening began with PKU. But it has grown tremendously. It has evolved into what we call “the newborn screening system”. And as I shared in my story “60 Years of Newborn Screening”…
“We can reflect and be thankful for what the newborn screening system has done. It has changed the lives of a generation.
But we still have much work to do, for those born today… And for generations yet to come.”
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